Property Summary

NCBI Gene PubMed Count 470
PubMed Score 5495.01
PubTator Score 2342.79

Knowledge Summary


No data available


  Disease (6)

Disease Target Count Z-score Confidence
Vascular disease 281 4.034 2.0
Disease Target Count Z-score Confidence
Alpha 1-antitrypsin deficiency 10 8.297 4.0


  Differential Expression (32)

Disease log2 FC p
nephrosclerosis -1.114 4.0e-02
Barrett's esophagus 3.700 1.4e-02
esophageal adenocarcinoma 3.800 1.8e-02
psoriasis 2.100 4.2e-100
cutaneous lupus erythematosus 1.900 2.3e-02
glioblastoma 2.800 4.5e-03
osteosarcoma -2.869 1.5e-02
chronic lymphosyte leukemia -2.600 1.3e-11
posterior fossa group A ependymoma 1.900 8.1e-05
group 3 medulloblastoma -1.500 4.9e-02
cystic fibrosis 1.592 3.6e-04
periodontitis 1.300 3.7e-28
atypical teratoid / rhabdoid tumor 1.400 3.5e-03
medulloblastoma, large-cell 2.000 4.6e-06
active Crohn's disease 2.689 2.0e-02
pancreatic ductal adenocarcinoma liver m... -2.822 6.7e-03
tuberculosis 1.500 5.0e-07
non-small cell lung cancer -2.070 5.4e-09
lung cancer -7.500 4.1e-08
ulcerative colitis 2.800 1.7e-05
pancreatic cancer 1.700 3.8e-02
breast carcinoma 1.500 7.6e-03
fibroadenoma 1.900 2.3e-03
interstitial cystitis 3.700 4.8e-04
pediatric high grade glioma 1.900 2.6e-03
pilocytic astrocytoma 1.900 1.1e-05
invasive ductal carcinoma 1.171 4.1e-03
lung carcinoma -3.000 1.7e-15
gastric carcinoma 3.000 3.7e-02
mucosa-associated lymphoid tissue lympho... 2.783 5.9e-03
ovarian cancer 1.600 5.9e-11
head and neck cancer and chronic obstruc... 1.800 5.6e-03

Gene RIF (380)

26797521 We conclude that API M358R inhibits FVIIa by forming inhibitory complexes of the serpin type more rapidly than AT in the absence of heparin.
26772976 Urinary CD59 and alpha-1 antitrypsin are significantly altered in hypertensive patients developing albuminuria.
26634430 low serum levels of AAT in patients with HSAP are correlated with disease severity and AAT may represent a potential target for therapies aiming to improve pancreatitis.
26444279 An increased NE: A1 AT ratio is closely associated with liver Inflammation in patients with NASH and could serve as a novel marker to predict NASH in humans
26371243 The BLT1 Inhibitory Function of alpha-1 Antitrypsin Augmentation Therapy Disrupts Leukotriene B4 Neutrophil Signaling.
26363050 A1AT binds to FA, and it is this form of A1AT that induces Angptl4 and FABP4 expression via a PPAR-dependent pathway.
26321041 In the title.
26310624 findings show that alpha-1-antitrypsin induces the expression of hepcidin in hepatocytes probably via inhibition of alpha-1-antitrypsin.
26295339 FBG1 degrades A1AT-Z through a Beclin1-dependent arm of autophagy.
26243289 In patients with alpha-1-antitrypsin deficiency disease a method to quantify A1AT allele protein expression was developed.
26221769 Alpha-1 antitrypsin mitigates the inhibition of airway epithelial cell repair by neutrophil elastase.
26206901 alpha1-antitrypsin internalization is a clathrin-dependent and low-density lipoprotein receptor-related protein 1-mediated endocytosis process.
26174136 rs2896268 in SERPINA1 is associated with AAT level. rs671 in ALDH2, rs1169288 in HNF1A and rs1260326 in GCKR, significantly associate with AAT levels.
26158350 In breast cancer patients, ER is constitutively activated, resulting in an E2-independent ER binding to the SERPINA1 gene and upregulation of SERPINA1 expression.
26141700 Tissue-specific expression was found for the SERPINA1 transcripts.
26091018 Case Report: identify novel mutations of alpha-1 antitrypsin, with effects on folding, function, and polymerization.
26011795 The study used mass spectrometry to study a conformationally labile protein (alpha 1 -antitrypsin) that undergoes pathological polymerization in the context of point mutations.
26005342 Case Report: homozygous cytosine and adenine insertion in exon 2 of the SERPINA-1 causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.
26003074 We did not find a more frequent occurrence of the SERPINA1 gene mutation in children with cystic fibrosis and coexisting features of damaged liver and cholestasis.
25969357 An absent or weak protein band in the alpha1 region of alpha1-antitrypsin has been associated with severe early-onset emphysema.
25961766 calprotectin and alpha1-antitrypsin dynamics in gastrointestinal GvHD
25738741 Using common pathogenic E342K (Z) variant of alpha1-antitrypsin as antigen-whose native state is susceptible to the formation of a proto-oligomeric intermediate-we have produced a mAb that increases the rate of oligomerization of the wild-type (M) variant.
25677901 The suitability of the present method for gastric serum proteomic analysis was demonstrated and led to the identification of two peptide regions the expression of the SERPINA1 and ENOSF1
25667209 Suggest the possible involvement of alpha1-AT in the pathophysiology of endometriosis.
25660456 This study uncovers a complex functional network of proteins required for NHK dislocation.
25659085 High serum Alpha-1-antitrypsin levels are associated with pouchitis.
25658455 The study shows that A1AT does not inhibit human monocyte caspase-1.
25487697 This study reveled that SERPINA1 having a central role in the bipolar disease and schizophrenia manifestation.
25454901 Although alpha-1 antitrypsin high-risk variants for chronic obstructive pulmonary disease were not directly linked in the study population with disease susceptibility, these risk alleles were found to be associated with poorer lung function measurements.
25425243 study underlines that the laboratory diagnosis of AATD is not just a matter of degree, because the precise determination of the deficiency and Null alleles carried by an AATD individual may help to evaluate the risk for the lung disease
25389308 Expression of AAT in mice with experimentally induced peritonitis or sepsis reduced pathology and mortality rates.
25351931 Acute-phase protein alpha1-anti-trypsin: diverting injurious innate and adaptive immune responses from non-authentic threats.
25329061 alpha-1-antitrypsin as substrate of HTRA1 synthetic
25287719 In a family with severe alpha-1 antitrypsin deficiency, a new splicing mutation in the coding region of SERPINA1 was identified.
25242242 Alpha-1 proteinase inhibitor M358R inhibits exogenous thrombin and is a membrane protein.
25218041 Polymers of Z-alpha-1 antitrypsin form in bronchial epithelial cells, suggesting that these cells may be involved in the pathogenesis of lung emphysema and in bronchial epithelial cell dysfunction in AAT deficiency.
25216870 High percentage of alpha1-globulin in serum protein was also related to short recurrence survival (hazard ratio 1.56, 95% CI 1.14-2.13, p=0.005).
25211665 Enhanced serpinA1 expression was significantly associated with increased tumour size, advanced T stage, perineural invasion, lymphovascular invasion, lymph node metastases in gastric cancer.
25181470 the structural and dynamic differences between native Z and M alpha1AT, were determined to reveal the molecular basis of Z alpha1AT polymerization.
25105300 Regulation of autophagy by AAT
25092677 Circulating levels of alpha1-antitrypsin, an endogenous inhibitor of neutrophil serine proteases, are decreased in T1D patients.
25070245 Histomorphological findings support that PiMZ heterozygosity has an independent aggravating effect on liver fibrosis, even though the pathogenic effect of alcohol consumption is much stronger
25010111 Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants
24892502 Alpha-1 Antitrypsin is the most abundant serpin within the circulation and has been shown to increase in response to inflammation. [Review]
24886427 Patients with colorectal carcinoma have much higher serum AAT concentrations than healthy controls, regardless of the genotypes.
24848503 alpha-1 antitrypsin gene induction has a role in experimental and clinical acute kidney injury
24840902 The design, synthesis and screening of diversity-oriented peptide libraries using a "libraries from libraries" strategy for the development of inhibitors of a1-antitrypsin deficiency are described.
24760148 acute-phase protein A1AT is a physiological regulator of angptl4, another acute-phase protein.
24743137 A1AT bidirectional uptake and secretion from lung endothelial cells towards the alveolar epithelium and airspaces
24713750 highlight the importance of understanding the limitations of a commonly used diagnostic algorithm and the potential for underdiagnosis of alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease
24659849 Two differentially expressed proteins, alpha-1-antitrypsin (SERPINA1) and alpha-2 antiplasmin (SERPINF2) are associated with purpura fulminans.
24582784 Human AAT could be a potential novel therapeutic drug for the protection against neurodegeneration after ischemic stroke.
24518491 Accumulation of misfolded A1AT aggregates appears to accelerate progression, in which the hepatocyte is the key injured cell. Heterozygous A1AT states worsen prognosis, particularly in NASH and alcohol-related cirrhosis.
24502947 Results indicate that the interaction between Z-type alpha1-antitrypsin and yeast ER peptidyl-prolyl isomerase Cpr2p was confirmed by co-immunoprecipitation.
24449466 Mice treated with AAT show significantly lower serum levels of tumor necrosis factor (TNF)-alpha, paralleling the reduced activity of ADAM17 (TACE).
24428606 Results indicate that PiMZ SERPINA1 heterozygotes have significantly more airflow obstruction and chronic obstructive pulmonary disease than PiMM individuals and cigarette smoke exposure exerts a significant modifier effect.
24286083 The influence of cigarette smoking on gingival bleeding and serum concentrations of haptoglobin and alpha 1-antitrypsin.
24213563 SERPINA1 PiMZ genotype, in combination with smoking, modified the association between occupational vapors, dusts, gases, and fumes exposure and longitudinal change in lung function...
24140600 The results indicate that the approach is sufficiently robust to correctly identify functional versus non-functional candidates in API expression libraries
24122823 Significantly increased prevalence of the alpha-1-antitrypsin deficiency-associated S allele was observed in HIV-infected patients compared to the prevalence of the allele in the general population.
24097797 NF-kappaB signalling in airway-derived cells represents a loss of anti-inflammatory signalling by M alpha1-antitrypsin.
24047901 Kinetic studies of calcium effects on the labeled alpha1PI-trypsin reactions demonstrated both inactive and low activity states of the distorted protease in the final complex that were distinct from the intermediate distorted state
24011266 Further development of A1AT as a diagnostic biomarker for BCa is warranted.
23990791 SERPINA1 locus genotyping in 5569 participants with subsequent stepwise conditional analysis, as well as exon-sequencing in a subsample (N=410), suggested that AAT serum level is causally determined at this locus
23953881 Findings suggest that galectin-3 overexpression promotes paracrine growth of chronic myelogenous leukemia (CML) cells by interfering with the action of the growth inhibitory SERPINA1-albumin complex in the tumor microenvironment.
23837941 Cystic fibrosis-like disease probably has an oligogenic origin, resulting from mutations in several genes, including CFTR, SERPINA1, and SCNN1 isoforms.
23829472 downregulate B-cell alloresponse during skin transplantation in mice
23826168 Specific features of SERPINA2 include the absence of insoluble aggregates and the insignificant response to cell stress, suggesting that it is a non-polymerogenic protein with divergent activity of SERPINA1.
23766346 The first two cases of a rare alpha 1 antitrypsin mutation deficiency allele form part of the routine differential diagnosis of pediatric liver disease of indeterminate etiology in Vietnamese patients.
23744167 We believe that our preliminary data confirm the clinical importance of AAT deficiency in granulomatosis with polyangiitis patients and the need to screen for AAT deficiency alleles.
23717456 In combination with hAAT, the group displayed significantly extended rejection days.
23648095 Fibrin clots contain strongly bound A1AT, which is functionally active as a serine protease inhibitor (serpin).
23604680 Trypsin inhibitory capacity and specific activity of A1AT were decreased in WG patients and may be involve in disease pathogenesis and can worsen the clinical manifestations.
23381957 TFEB gene transfer is a novel strategy for treatment of liver disease of alpha-1-anti-trypsin deficiency.
23376655 Metabolism and metabolic burden by alpha1-antitrypsin production in human AGE1.HN cells
23342621 Serum A1-antitrypsin levels in prostate pathology
23299157 1-antitrypsin correlates closely with obesity, and is related to other factors such as leptin, adiponectin, and insulin
23258471 This review presents clinically useful characteristics of main genetic alpha-1 antitrypsin variants.
23251618 The discovery and characterization of a novel SERPINA1 mutant in circulating alpha(1)AT deficiency, is reported.
23226468 Monocyte/macrophage-expressed A1PI-M antagonizes IL-1beta secretion possibly via caspase-1 inhibition.
23154425 A comparison of serum homocysteine and alpha-1 antitrypsin in patients with subclinical hypercortisolemia and controls indicated statistically higher values of both analysed parameters in the sera of patients than in controls.
23144969 differentially sialylated products of Serpin A1 is associated with the development of a dementia during the course of Parkinson's Disease.
23088986 Urinary concentration of alpha1AT is increased in patients diagnosed with bladder cancer.
23067211 Increased Alpha-1-antitrypsin level is associated with chemoresistance in non-small cell lung cancer.
23017899 Data suggest the feasibility to use transgenic plants for the production of stable, glycosylated and biologically active recombinant alpha 1-proteinase inhibitor for further therapeutic applications.
22995909 Data indicate improved secretion of an active species of Z-alpha1AT (alpha1-Antitrypsin) in response to histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA).
22993338 Variations in SERPINA1 and ELA2 were not consistently or strongly associated with the risk of either COPD or NSCLC in either African Americans or caucasian.
22971141 the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population
22933512 the numbers of individuals in countries in each geographic region and the prevalence of PI*S and PI*Z deficiency alleles demonstrate the spread of these alleles to many different countries worldwide from those countries where they arose generations ago
22926906 Estimated incidence of deficiency alleles was 13,7/1000 (95% CI 5.8-21.5) for PI *Z and 7.6/1000 (95% CI 1.7- 13.5) for PI *S. The calculated prevalence for the main deficiency genotype ZZ was 1/5345. The study is on-going.
22916037 Multi-tissue gene expression studies reveal SERPINA1 and AQP9 variants as genes for atherosclerosis.
22912729 in addition to the well established impact of the rare PiZZ genotype, one Z allele may be sufficient to accelerate lung function decline in population subgroups characterized by elevated levels of low grade inflammation
22896658 FN1 assembly and the lung colonization of suspended CL1-5 cells were inhibited when endogenous A1AT protein was knocked down using siRNA.
22841602 A decreased serum level of alpha1-proteinase inhibitor was found among breast cancer patients in comparison to controls.
22821488 Alpha 1-antitrypsin (A1AT) antibodies were detected in 24 of 25 patients with breast cancer (96%) and in 2 of 20 controls (10%).
22793939 Review of the role of alpha-1-antitrypsin deficiency in chronic obstructive pulmonary disease.
22746289 Lower circulation levels and activity of alpha-1 antitrypsin in pregnant women with severe preeclampsia.
22735536 molecular dynamics investigation of the native states of wild-type and Z alpha1-AT
22723858 the new AAT deficiency variants, besides increasing the risk of lung disease, may predispose to liver disease, particularly if associated with the common Z variant.
22708402 change of the maintenance of three acute phase proteins: ceruloplasmin, alpha1-antitripsin and orosomucoid in an oral fluid and blood plasma at paradontitis and myocardial infarction
22634621 AAT facilitates regulatory T (Treg) cell-promoting, IL-10- producing, and readily migrating semimature dendritic cells.
22590577 In silico assessment of potential druggable pockets on the surface of alpha1-antitrypsin conformers.
22555971 Fecal calprotectin and alpha(1)-AT levels at the time of diagnosis are predictive for responses to treatment but are not diagnostic markers for initial stage 1 to 3 gastrointestinal graft-versus-host disease.
22544422 case Report: total pleural covering technique for alpha-1-antitrypsin deficiency-associated pneumothorax.
22414631 Results support an extended phenotype for A1AT mutation carriers beyond liver and lung vulnerability to selective advantages: ICE phenotype and disadvantages: fibromyalgia, affective disorders, and selected late onset neurological syndromes.
22392975 analysis of the folding mechanism of the metastable serpin alpha1-antitrypsin
22363634 The mechanism underlying the alpha(1)PI deficiency that attends HIV-1 infection, was investigated.
22356581 The data showed that IREB2 and CHRNA3 are potential genetic modifiers of chronic obstructive pulmonary disease in individuals with severe alpha-1 antitrypsin deficiency and may be sex-specific in their impact.
22274560 The current findings suggest that ATA1 contributes to the pathogenesis of ankylosing spondylitis by up-regulating the gene expression in the synovial tissues.
22215832 AAT deficiency is known to cause a variety of respiratory symptoms that generally present in the third or fourth decade of life. The AAT protein is encoded by the SERPINA1 gene and inheritance is autosomal codominant.
22184992 Combination of polymorphism of MMP-1 and alpha1-proteinase inhibitor genes is characterized by the concurrence of bronchopulmonary and skin diseases.
22162908 These data suggest that cellular differentiation is a regulator of local AAT production.
22139150 solved the highest resolution (1.8 A degrees ) crystal structure of alpha1- antitrypsin.
22075288 All of the investigated patients with severe COPD were MM type homozygotes with normal plasma level of AAT with no significant correlation between the phenotype and severity of chronic obstructive pulmonary disease.
22008137 Although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing.
21976666 activation of the ATF6 pathway of the UPR limits ATZ-dependent cell toxicity by selectively promoting ER-associated degradation of ATZ
21925577 frequency of HFE mutant alleles (C282Y, H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma (HCC)patients; we did not find any association of A1AT mutation with incidence of HCC
21843112 insufficiency may contribute to preterm premature rupture of fetal membranes
21832065 importin beta cooperates with Ran GTPase to promote ubiquitination and proteasomal degradation of mutant alpha1-antitrypsin
21821620 the Z but not the S deficiency allele is associated with ANCA-associated vasculitis; alpha1AT polymers are present in serum and glomeruli of some patients with Z allele, which may promote inflammation through neutrophil priming
21791445 Letter: report association between alpha 1 antitrypsin genotype and obstructive airway disease.
21786332 Aim of this study is to determine the prevalence of AT deficiency in Turkish population and to define the cutoff value of AT level in serum to detect heterozygous AT deficient subjects.
21763297 The SNP rs6609533 of TIMP-1 gene interacted with PIM3 of alpha(1)AT to make a possible risk combination for development of COPD.
21752289 alpha-1 Antitrypsin deficiency in Ireland is more prevalent than previously estimated with Z and S allele frequencies among the highest in the world
21727732 results showed high prevalence of AAT deficiency allele in the Saudi population; of 158 subjects, 11.39% were carriers for S mutation, 2.53% were carriers for Z mutation; SZ genotype was present in 3.8%; SS genotype was present in 1.9%
21702661 Review: The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and alpha-1 anti-trypsin deficiency.
21698349 Serum alpha 1 antitrypsin level and age were the independent predictors of aortic dilatation in patients with bicuspid aortic valves.
21670848 Data sshow that that plasmid-derived circulating hAAT protects islet allografts from acute rejection.
21575917 relationship between C-reactive protein (CRP) and alpha1-antitrypsin (AAT) in the AAT deficiency diagnostic setting to verify whether variations in the CRP gene could influence CRP
21505264 analysis of the effect of mutant alpha1-antitrypsin on alpha1-antitrypsin deficiency
21477074 examined the localization and production of A1AT in healthy donor neutrophils and found A1AT to be a constituent of all granule subtypes and to be released from neutrophils following stimulation
21470421 from meta analysis, identified 1 gene (SERPINA1) which identifies papillary thyroid carcinoma against benign nodules with 99% accuracy
21335450 The 11478G-->A genotype frequencies did not vary between chronic obstructive pulmonary disease cases and controls, or between chronic obstructive pulmonary disease frequent and infrequent exacerbators.
21273701 AAT phenotypes were evaluated in patients with Klinefelter's syndrome. Patients with lowered AAT level and AAT deficiency, especially in men with lung diseases, may have risk of additional diseases.
21263074 A unique mechanism of HIV inhibition applicable to human subjects occurs when AAT blocks the nuclear translocation of nuclear factor (NF)-kappaB p50/p65 despite an unexpected elevation in associated phosphorylated and ubiquitinated IkappaBalpha.
21258324 The study structurally characterizes a sheet-opened state of the serpin alpha-1-antitrypsin and shows how local unfolding allows functionally essential strand insertion.
21173712 Increased serum alpha 1-antitrypsin is associated with non-small cell lung cancer.
21138571 Patients with A1ATD related COPD have increased aortic stiffness.
21138453 a novel role of alpha1AT Z heterozygosity as a potential genetic susceptibility factor for cholangiocarcinoma formation and a contribution of aberrant alpha1AT function in biliary carcinogenesis
21134340 HIV infection is associated with reduced serum alpha-1-antitrypsin concentrations.
21067581 Observational study of gene-disease association. (HuGE Navigator)
21060150 demonstrated that glycosylated AAT can bind to IL-8 (a ligand for CXCR1) and that AAT-IL-8 complex formation prevented IL-8 interaction with CXCR1
20886426 Possible mechanisms for an eventual contribution of a heterozygosity of a heterozygous AAT-deficiency for a case of hepatocellular carcinoma are reviewed and discussed.
20827781 Deficiency of alpha(1) -antitrypsin (alpha(1) AT) may be a determinant of susceptibility to Wegener's granulomatosis (WG).
20811639 change in the glycosylation of A1AT with the progression from liver cirrhosis to cancer
20739079 Observational study of gene-disease association. (HuGE Navigator)
20667823 Loop-sheet mechanism of serpin polymerization tested by reactive center loop mutations.
20666480 Candidate biomarkers were in situ verified in tissue arrays, and relative concentrations were validated in 84 CRC patients and controls. Alpha1 antitrypsin (A1AT) and cathepsin D (CTSD)were further examined due to the possible importance in human cancers.
20634282 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20595457 Observational study of gene-disease association. (HuGE Navigator)
20561599 Findings for the first time highlight that the entry and cell association of SERPINA1 is dependent on lipid raft cholesterol and that SERPINA1 depletes lipid raft cholesterol.
20558996 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20521180 variants of AAT and neutrophil elastase genotypes with predicted intermediate or high activity could represent a risk factor for aggressive form of lung cancer
20521180 Observational study of gene-disease association. (HuGE Navigator)
20477988 Results identify the glycoprotein alpha1-antitrypsin as a cargo of VIP36.
20463814 a proteolytic fragment of alpha-1-antitrypsin (AAT), termed virus inhibitory peptide (VIRIP), was observed in plasma coincident with viremia in early HIV infection
20435667 when data for the prevalence of AAT deficiency in individual cohorts are displayed as a function of ethnic subgroup, striking differences are found in the numbers in each of the five phenotypic classes of PI*S and PI*Z
20428906 No histological differences were found between skin samples from AAT deficiency and normal AAT phenotypes.
20425789 Individuals with classic Williams syndrome deletions and SERPINA1 genotypes were more likely to have joint dislocation or scoliosis.
20425789 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20371432 Almost all of the acute-phase proteins were closely related to rheumatoid arthritis activity (based on DAS28) and their places in the downgrade scale were as follows: CRP, Tf, AGP, Hp and AAT.
20298391 Observational study and meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
20228200 The unfolded protein response is activated in unstimulated monocytes from alpha-1 antitrypsin-deficient individuals, affecting monocyte function and leading to an exaggerated inflammatory gene expression.
20226649 Observational study of genotype prevalence. (HuGE Navigator)
20170533 c.-1973T >C polymorphism was not a risk factor for liver disease of various aetiologies.
20170533 Observational study of gene-disease association. (HuGE Navigator)
20150872 Alpha1-AT and neopterin serum levels should be considered in the follow up as well as in the prognosis of cancer patients.
20119870 Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population.
20119870 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20109307 gene polymorphism is associated with clinically severe chronic rhinosinusitis
20109307 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20108056 Report the development of a simple PCR-based analysis designed for the detection of the PI*Mmalton (the most frequent Alpha 1 antitrypsin deficiency variant in regions of the Southern Mediterranean basin) deficiency alleles using two specific primers.
20086110 gastric juice alpha1-antitrypsin concentration in gastric cancer patients markedly exceeds those in healthy subjects and patients with benign gastrointestinal diseases
20049513 We found no effect of SERPINA1 over expression on tumor growth in SCID mice although cell migration and invasion were affected in in vitro assays.
19961268 Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers.
19961268 Observational study of gene-disease association. (HuGE Navigator)
19956452 Observational study of genetic testing. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19944704 Kinetic instability of the serpin Z alpha1-antitrypsin promotes aggregation.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19902353 an unidentified candidate breast cancer biomarker was identified as 41/42-aa C-terminal peptide of alpha1-antitrypsin in ductal fluid of breast cancer patients
19853488 Observational study of gene-disease association. (HuGE Navigator)
19815548 Results show that the phosphorylation of calnexin is linked to the efficiency of secretion of the cargo glycoprotein, in this case, alpha1-antitrypsin.
19794310 Sustained viral response (SVR) in A1AT wildtypes was not different from SVR in A1AT heterozygotes after hepatitis C combination therapy.
19789190 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19763368 no consistent pattern among sites in the vagina in pelvic organ prolapse
19751191 Based on charge differences over 90 genetic variants have been identified by isoelectric focusing
19747908 Data show that the SERPINA1 p.V213A polymorphism was found associated with disseminated bronchiectasis risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers.
19747908 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19738092 The SERPINA1 Z allele is a risk factor for liver disease in cystic fibrosis. Patients who carry the Z allele are at greater risk (OR, approximately 5) of developing severe liver disease with portal hypertension.
19738092 Observational study of gene-disease association. (HuGE Navigator)
19729499 PSA, but not PSA-ACT complexes in CSF do not seem to have a role in Alzheimer's disease
19657220 Genotype MS, SS and MZ were detected in 18.3, 3.8 and 1.3% of chronic pancreatitis patients, respectively
19657220 Observational study of gene-disease association. (HuGE Navigator)
19628210 Observational study of gene-disease association. (HuGE Navigator)
19590686 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19515129 the presence of an S or Z allele is associated with higher attack frequency in cluster headadhe with alpha 1-antitrypsin deficiency
19515129 Observational study of gene-disease association. (HuGE Navigator)
19437508 we show that the P(brescia) mutant is retained in the endoplasmic reticulum as ordered polymers and is secreted more slowly than the normal M alpha(1)AT
19417089 HDL-associated AAT was able to inhibit extracellular matrix degradation, cell detachment, and apoptosis induced by elastase in human vascular smooth muscle cells
19398551 Selenoprotein S/SEPS1 modifies endoplasmic reticulum stress in Z variant alpha1-antitrypsin deficiency.
19368725 The pilot study demonstrated that alleles related to deficiency of Alpha 1 antitrypsin are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant.
19368725 Observational study of gene-disease association. (HuGE Navigator)
19344972 The serum AAT level is significantly lower in gestational diabetes mellitus compared with normal pregnancies.
19306859 Haptoglobin and alpha-1-antitrypsin may constitute new and useful markers of breast cancer
19292870 the serine protease inhibitor alpha-1 antitrypsin binds preprohepcidin within the cell during maturation. Furthermore, alpha-1 antitrypsin binds prohepcidin significantly in the plasma
19251947 Shed syndecan-1 restricts neutrophil elastase from alpha1-antitrypsin in neutrophilic airway inflammation.
19251783 analysis of alpha1-proteinase inhibitor lung deposition in cystic fibrosis and alpha1-antitrypsin deficiency
19197072 Cytokine production is increased in whole blood from alpha-1-Antitrypsin-deficient patients.
19181511 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19180336 Observational study of gene-disease association. (HuGE Navigator)
19129321 Assessment of myeloperoxidase and oxidative alpha1-antitrypsin in patients on hemodialysis.
19115690 In women with cervical cancer,serum alpha-1-antitrypsin activity was lower both before and after brachytherapy sessions as compared to controls; after the end of therapy, the activity reverted back to the values characteristic for healthy women
19073710 The results showed that AAT in the amnion may function as a protective shield at inflammatory sites, and not as it loses it inhibitory activity in cases with PROM, possibly by oxidation, suggesting that its imbalance contributes to PROM.
19010440 Reports a distinct transcription initiation site for AAT expression in lung cells, which is located 9 bases upstream of the previously mapped full-length monocyte transcription start-site, and shows two Sp1 sites and a putative TATA box are functional.
18931508 Age-of-onset for lower lung function and potentially lung function decline may be under genetic control in individuals with severe AAT deficiency.
18766166 lung and prostate cancer patients have shown a significant elevation in alpha1-AT serum levels compared with healthy controls; breast cancer patients did not show a significant change in these levels
18725338 PiM2 allele can be considered as genetic risk factor for asthma. PiS and PiZ alleles are very rare in Tunisia in comparison with the European population, leading to a very small contribution in pulmonary diseases pathogenesis in Tunisia.
18723439 Alpha1-antitrypsin (AAT), an endogenous inhibitor of serine proteases, inhibits the catalytic domain of human recombinant matriptase in vitro.
18686007 analysis of human alpha1-antitrypsin (A1AT), a major therapeutic protein, expressed in genetically engineered tobacco plastids
18609127 Antral alpha1-PI expression is specifically induced by H. pylori infection
18594986 The degradation or metabolization of acute-phase proteins, apolipoprotein A-I, and alpha1-antitrypsin, is a common response to gastric inflammation irrespective of Hp infection.
18550704 Identification in human milk of complexes of matriptase with ATIII, A1AT, or A2AP, provides evidence that the proteolytic activity of matriptase, from cells that express no or low levels of HAI-1, may be controlled by secreted serpins.
18534053 Report frequency of S and Z alleles for alpha-1-antitrypsin and tumor necrosis factor alpha -308 promoter polymorphism in northeastern Mexico.
18534053 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18515255 SERPINA1 gene variants associated with reduced serum alpha 1-antitrypsin concentrations.
18515255 Observational study of gene-disease association. (HuGE Navigator)
18504338 Our results suggest that alpha(1)ATD carriers are at a 70% to 100% increased risk of lung cancer and may account for 11% to 12% of the patients with lung cancer in our study.
18504338 Observational study of gene-disease association. (HuGE Navigator)
18495745 Observational study of gene-disease association. (HuGE Navigator)
18433707 Observational study of genetic testing. (HuGE Navigator)
18353624 Serum levels of AAT are correlated with the severity of pulmonary phenotype. Subjects with Null mutations should be considered a subgroup at particularly high risk of emphysema within AAT deficiency
18340647 mutations in the AAT and SLC11A1 genes may change the balance between elastase produced by leukocytes during phagocytosis.
18309698 Meta-analysis of genotype prevalence. (HuGE Navigator)
18294358 PI Z mutation age was 2902 years in Latvia (SD 1983) and 2362 years in Sweden (SD 1614) which correlates with previous studies based on microsatellite analysis.
18283111 The results reveal ERGIC-53 to be an intracellular transport receptor of alpha1-AT and provide direct evidence for active receptor-mediated ER export of a soluble secretory protein in higher eukaryotes.
18264947 Observational study of genotype prevalence. (HuGE Navigator)
18258845 The persistence of HD5-chymotrypsinogen-trypsin complex in Crohn disease may be attributable to increased luminal levels of proteinase inhibitors such as alpha1-anti-trypsin.
18164971 Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population.
18164971 Observational study of gene-disease association. (HuGE Navigator)
18089349 In enzyme deficient patients with portal hypertension, esophageal varices, or deterioration of hepatic function, liver transplantation should not be delayed.
18060368 The lack of direct chemotactic effects of recombinant human alpha(1)-proteinase inhibitor
18031952 No significant difference in allele frequency between COPD patients and controls.
18031952 Observational study of gene-disease association. (HuGE Navigator)
18028276 A1PI becomes a substrate for Basic carboxypeptidases
17972336 single nucleotide polymorphism confers a significant risk for liver disease in homozygous ZZ children
17906067 genetic heterogeneity is present in clinical "P" phenotype variants and the deleterious P lowell variant appears to be relatively common
17855650 SERPINA1 was shown to be expressed in 85.7% of malignant versus 14.3% of nonmalignant insulinomas by immunohistochemistry; data are consistent to the possibility that SERPINA1 is a marker of malignancy in insulinomas
17727818 overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells
17693072 Observational study of genotype prevalence. (HuGE Navigator)
17688648 study found alpha1AT deficiency is not an important cause of neonatal cholestasis and childhood liver diseases in Malaysian children
17660256 Local conformational change of A1AT was studied.
17659342 aat is associated with affective disorders, persons with 'intensive creative energy', white matter disease or multisystem disorders of memory
17654345 AAT may be an anti-RGM host-defense factor, and anomalous AAT phenotypes or AAT deficiency may constitute risk factors for pulmonary disease due to rapidly growing mycobacteria
17650587 analysis of the entire 1257 bp nucleotide sequence of protein coding region of the human AAT variant
17635928 Regulator of G Signaling 16 has a role in the distinct endoplasmic reticulum stress state associated with aggregated mutant alpha1-antitrypsin Z in the classical form of alpha1-antitrypsin deficiency
17573378 Serum level of sialic acid in patients with chronic alcohol abuse depends on the concentration of the most sialylated glycoproteins: alpha 1-antitrypsin, alpha 1-acid glycoprotein, and transferrin.
17261591 Alpha1-antitrypsin has a role in anti-inflammatory activity in human monocytes by elevating cAMP
17258834 Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication
17240615 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17237579 Observational study of gene-disease association. (HuGE Navigator)
17204961 Observational study of gene-disease association. (HuGE Navigator)
17203708 Observational study of gene-disease association. (HuGE Navigator)
17006922 AAT mutations are associated with hyperferritinemia and sinusoidal iron accumulation, but not with more severe liver damage in NAFLD.
17003923 Observational study of genotype prevalence. (HuGE Navigator)
16979136 These data indicate that gp78 assumes multiple unique quality control roles over ATZ, including the facilitation of degradation and inhibition of aggregation of ATZ.
16954950 Observational study of gene-disease association. (HuGE Navigator)
16954950 study shows no association between cystic fibrosis transmembrane conductance regulator (CFTR) mutations and pancreatitis and the importance of alpha 1-antitrypsin(AAT) variants remains speculative
16900211 serpin A1 has an invasion-promoting effect in anaplastic large cell lymphoma
16887359 In Alzheimer disease brain, alpha(1)-antitrypsin immunoreactivity was augmented and co-distributed with heme oxygenase-1
16875754 Diabetes is associated with reduced alpha-1-antitrypsin activity of plasma.
16859601 Genetic investigations for Wegener's granulomatosis (WG) have identified various candidate genes, with alpha1-antitrypsin deficiency being the most consistently reported genetic susceptibility factor to date.
16819398 The PiMZ alpha1ATD heterozygous state may have a role in worsening liver disease due to hepatitis C virus or nonalcoholic fatty liver disease.
16802007 Observational study of gene-disease association. (HuGE Navigator)
16802007 The relatively high frequency of A1AT S allele carriers in Egyptian cases of HCV liver cirrhosis suggests the need to routinely screen for this risk genotype among affected families.
16759229 mesotrypsin cannot activate pancreatic zymogens, but might activate certain proteinase-activated receptors because of its thrombin-like subsite specificity; alpha1AT Pittsburgh is an effective mesotrypsin inhibitor
16617455 Observational study of gene-disease association. (HuGE Navigator)
16617455 Results suggest that the polymorphism (1237 G --> A) in the 3' enhancer region of the alpha-1-antitrypsin gene is a marker for a modifying effect on pulmonary phenotype in the Irish cystic fibrosis population by a mechanism that is yet to be explained.
16608528 Observational study of gene-disease association. (HuGE Navigator)
16581345 Men with prostate cancer and those without prostate cancer but with PSA >2 ng/mL had significantly higher alpha 1-antitrypsin concentrations than those without these conditions.
16540089 The structural and functional characteristics of 10 dysfunctional alpha1-antitrypsin variants (R39C, S53F, V55P, I92N, G115S, N158K, E264V, A336T, P369S, and P369L) were analyzed in detail.
16531799 Observational study of gene-disease association. (HuGE Navigator)
16531799 AAT gene polymorphisms are not associated with renal arterial fibromuscular dysplasia.
16501672 Observational study of gene-disease association. (HuGE Navigator)
16387939 Observational study of genotype prevalence. (HuGE Navigator)
16385367 Observational study of gene-disease association. (HuGE Navigator)
16339299 The effects of heat shock on acute phase protein synthesis can be modified by preincubation with IL-6, whereas addition of this ligand after heat treatment has no effect on the suppressive effect of heat on the APPR.
16312203 AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIS.
16278826 Observational study of gene-disease association. (HuGE Navigator)
16204591 Observational study of genetic testing. (HuGE Navigator)
16183649 effect of mutant alpha1ATZ on several potential protective signaling pathways using cell lines with inducible expression of mutant alpha1AT
16179568 Observational study of gene-disease association. (HuGE Navigator)
16175011 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16172282 Observational study of gene-disease association. (HuGE Navigator)
16137891 In individuals with advanced lung disease associated with alpha(1)-antitrypsin deficiency, cytotoxic concentrations of alpha-defensins might be present and unopposed, thus further aggravating lung disease in this population.
16099106 Taken together, these data suggest that aggrecanase-1 and alpha1-antitrypsin bind in vivo, although the physiological significance of the interaction between aggrecanase-1 and alpha1-antitrypsin remains unclear.
16044402 Genetic deficiency engender a cancer-prone state by surviving with intrinsic damage and by chronically stimulating in 'trans' adjacent relatively undamaged hepatocytes. (Review)
16029614 Observational study of gene-disease association. (HuGE Navigator)
16011217 Point mutations in members of the serine proteinase inhibitor or serpin superfamily cause them to change shape, polymerise and be deposited in the tissues.
15994391 Meta-analysis of gene-disease association. (HuGE Navigator)
15927063 We found acceptable variability in our study parameters, indicating the feasibility of their use in an evaluation of biochemical efficacy of alpha-1-antitrypsin augmentation therapy in Pi Z subjects.
15820782 The PIM3 allele of the alpha1AT gene is found to have an association with the pathogenesis of COPD in the Indian population.
15820772 The results revealed that the frequency of M1S, M2S, M1Z, and MV alpha 1-antitrypsin phenotypes were significantly higher in uveitis patients
15775753 Observational study of genotype prevalence. (HuGE Navigator)
15709777 Polymerizing alpha 1-antitrypsin study clearly shows existence of a kinetic lag phase during which short oligomers are formed prior to the formation of heterogeneous mixtures of longer polymers produced via condensation of shorter oligomers.
15681822 polymeric alpha(1)-anti-trypsin co-localizes with neutrophils in the alveoli of individuals with Z alpha(1)-antitrypsin-related emphysema
15674733 Thirteen individuals showed biallelic expression of PI gene, and three individuals showed monoallelic expression.
15659365 serpin/furin complex stability depends on pH and regulation at the deacylation step
15653097 This review characterizes the unique physiological properties of alpha 1-antitrypsin (AAT) and its role as a diagnostic tool in lung and liver disorders associated with AAT serum deficiency.
15612581 Observational study of gene-disease association. (HuGE Navigator)
15532029 Observational study of genotype prevalence. (HuGE Navigator)
15532029 screening the exonic regions, 5' and 3' flanking sequence of the AAT gene in order to generate a high density map of single nucleotide polymorphisms (SNPs)
15498560 C26, the C-terminal 26 residue peptide of serpin A1, significantly increased cell proliferation in cultures of hepatoma cells.
15474273 Observational study of gene-disease association. (HuGE Navigator)
15454649 Meta-analysis of gene-disease association. (HuGE Navigator)
15271889 identified as a new binding partner for E.coli EspB and EspD, suggesting a previously unappreciated role for AAT in host cell defense against enteropathogenic Escherichia coli infections and potentially also against other bacterial pathogens.
15271689 Observational study of gene-disease association. (HuGE Navigator)
15266208 Observational study of healthcare-related. (HuGE Navigator)
15100318 A model cell system of endoplasmic reticulum (ER) stress signals induced by variant Z alpha 1-antitrypsin (A1AT) demonstrates that both ER overload response and unfolded protein response are activated by the variant Z A1AT, but not wild-type A1AT.
15079023 Observational study of gene-disease association. (HuGE Navigator)
14968215 No correlation between alpha-1-antitrypsin phenotype and lung, prostate, or breast cancer in Jordan
14766207 HSP70 and alpha1AT have immunogenic roles in diabetes mellitus
14766206 alpha1-antitrypsin has a role in neutrophil activation
14639110 A new M-like-null variant of alpha-1-antitrypsin associated with panacinar emphysema was found in a 73 year-old woman non-smoker.
14616761 Observational study of genotype prevalence. (HuGE Navigator)
14551891 Observational study of gene-disease association. (HuGE Navigator)
14523999 Observational study of genotype prevalence. (HuGE Navigator)
12934194 in community acquired pneumonia, both A1AT and SLPI were cleaved or complexed in infected lobes and A1AT was oxidized; conclude that mean elastase levels are increased and that mean anti-elastase capacity is decreased in pneumonic lobes
12933574 Alpha1PI promotes copatching of human leukocyte elastase with canonical HIV receptors. HLE & its ligand alpha1PI can serve as HIV coreceptor and cofactor & potentially participate in the pathophysiology of HIV disease progression.
12893950 Low plasma levels of A1AT may be a risk factor for spontaneous cervical artery dissections
12878320 alpha 1 antitrypsin simultaneously and differently inhibits processing of HIV-1 Env and Gag, intracellularly, at least in part, by blocking cellular furin.
12878320 Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication
12815594 Observational study of genotype prevalence. (HuGE Navigator)
12815594 First comprehensive analysis of the genetic diversity of the AAT gene in a cohort from sub-Saharan Africa.
12815101 In the proposed stochastic model, the delayed onset of the glycan modification, relative to the duration of nonnative protein structure, coordinates preferential degradation of misfolded alpha 1-anatitrypsin monomer & spares the native molecule.
12787886 Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication
12786756 Observational study of gene-disease association. (HuGE Navigator)
12689922 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12649292 examination of novel mode of polymerization
12621451 Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication
12612303 Observational study of gene-environment interaction. (HuGE Navigator)
12608432 Observational study of genetic testing. (HuGE Navigator)
12578879 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12528263 Observational study of genotype prevalence. (HuGE Navigator)
12514663 Observational study of gene-disease association. (HuGE Navigator)
12498804 Data identify residues in alpha(1)-antitrypsin that appear to play a key role in inducing or preventing conformational change.
12492914 Observational study of gene-disease association. (HuGE Navigator)
12464660 Alpha1-antitrypsin polymerization and the serpinopathies(REVIEW)
12464659 deficiency involved in liver and mitochondrial injury (REVIEW)
12460583 Acid denaturation of alpha1-antitrypsin: characterization of a novel mechanism of serpin polymerization.
12452840 Observational study of gene-disease association. (HuGE Navigator)
12372062 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12368052 Observational study of gene-disease association. (HuGE Navigator)
12368052 the alpha 1 antitrypsin polymorphisms, especially Pi*Z, could help to predict asbestosis risk
12324297 alpha(1)-antitrypsin and antichymotrypsin are produced by the mammary gland and are present in milk in relatively high amounts in early lactation
12223217 a protein identical to or highly homologous with serum A1AT was purified from follicular fluid; follicular fluid A1AT did not show a stimulatory effect on sperm motility
12083479 identified as a protective factor in plasma that neutralizes neutrophil degradation of scu-PA, tcu-PA, t-PA and plasmin
12023832 Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin.
12023831 alpha1-antitrypsin deficiency and dementia
12009885 The oxidation kinetics of each of alpha 1-antitrypsin's methionines has been reported for recombinant alpha 1-AT(C232S) as well as for M351L and M358V mutants, with new insights into the protein's solution structure.
11991955 reactivity and oxidation pathway of cysteine 232 residue
11936950 induction of expression by oncostatin M mediated by a 3' enhancer
11862702 In vitro formation of triple-stranded dna structures in the human alpha1-Antitrypsin gene (alpha1-antitrypsin)
11848724 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11834734 Concerted regulation of inhibitory activity of alpha 1-antitrypsin by the native strain distributed throughout the molecule.
11785295 Observational study of gene-disease association. (HuGE Navigator)
11773044 have used reactive loop peptides to explore the differences between the pathogenic Z and normal M alpha(1)-antitrypsin
11754061 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11744816 Results show that nephropathy is not a direct and single expression of alpha-1-antitrypsin deficiency.
11562937 Observational study of genetic testing. (HuGE Navigator)
11436564 Observational study of gene-disease association. (HuGE Navigator)
11295654 Observational study of gene-disease association. (HuGE Navigator)
11199103 Observational study of gene-disease association. (HuGE Navigator)
11148177 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11131449 Observational study of gene-disease association. (HuGE Navigator)
11034936 Observational study of gene-disease association. (HuGE Navigator)
8227051 Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication

AA Sequence


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PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26797521 2016 The M358R variant of ?(1)-proteinase inhibitor inhibits coagulation factor VIIa.
26772976 2016 Urinary alpha-1 antitrypsin and CD59 glycoprotein predict albuminuria development in hypertensive patients under chronic renin-angiotensin system suppression.
26634430 2015 Hepatic steatosis depresses alpha-1-antitrypsin levels in human and rat acute pancreatitis.
26444279 2016 Increased ratio of neutrophil elastase to ?1-antitrypsin is closely associated with liver inflammation in patients with nonalcoholic steatohepatitis.
26371243 2015 The BLT1 Inhibitory Function of ?-1 Antitrypsin Augmentation Therapy Disrupts Leukotriene B4 Neutrophil Signaling.
26363050 2015 ?1-Antitrypsin Combines with Plasma Fatty Acids and Induces Angiopoietin-like Protein 4 Expression.
26321041 2015 SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.
26310624 2015 Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
26295339 2015 FBG1 Is the Final Arbitrator of A1AT-Z Degradation.
26243289 2015 Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.
26221769 2016 Alpha-1 Antitrypsin Mitigates the Inhibition of Airway Epithelial Cell Repair by Neutrophil Elastase.
26206901 2015 Low-density lipoprotein receptor-related protein 1 mediates ?1-antitrypsin internalization in CD4+ T lymphocytes.
26174136 2015 Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.
26158350 2015 SERPINA1 is a direct estrogen receptor target gene and a predictor of survival in breast cancer patients.
26141700 2015 Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
26091018 2016 Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.
26011795 2015 An integrative approach combining ion mobility mass spectrometry, X-ray crystallography, and nuclear magnetic resonance spectroscopy to study the conformational dynamics of ?1 -antitrypsin upon ligand binding.
26005342 2015 Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.
26003074 Does the mutation of the SERPINA1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis? preliminary study.
25969357 2015 ?1-antitrypsin: a polyfunctional protein?
25961766 2015 Fecal calprotectin and ?1-antitrypsin dynamics in gastrointestinal GvHD.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25738741 2015 An antibody raised against a pathogenic serpin variant induces mutant-like behaviour in the wild-type protein.
25677901 2015 Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.
25667209 2015 Possible Role of ?1-Antitrypsin in Endometriosis-Like Grafts From a Mouse Model of Endometriosis.
25660456 2015 Identification of ERAD components essential for dislocation of the null Hong Kong variant of ?-1-antitrypsin (NHK).
25659085 2015 Serum alpha-1 antitrypsin: a noninvasive marker of pouchitis.
25658455 2015 Alpha 1-antitrypsin does not inhibit human monocyte caspase-1.
25645918 2015 Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
25487697 2015 Innate immune response is differentially dysregulated between bipolar disease and schizophrenia.
25454901 2015 Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values.
25425243 2014 Identification and characterisation of eight novel SERPINA1 Null mutations.
25389308 2015 Acute phase protein ?1-antitrypsin reduces the bacterial burden in mice by selective modulation of innate cell responses.
25351931 2015 Acute-phase protein ?1-anti-trypsin: diverting injurious innate and adaptive immune responses from non-authentic threats.
25329061 2014 Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue.
25287719 2014 Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
25242242 2014 Alpha-1 proteinase inhibitor M358R reduces thrombin generation when displayed on the surface of cells expressing tissue factor.
25218041 2014 The role of bronchial epithelial cells in the pathogenesis of COPD in Z-alpha-1 antitrypsin deficiency.
25216870 2014 High percentage of ?1-globulin in serum protein is associated with unfavorable prognosis in non-small cell lung cancer.
25211665 2014 Serpin peptidase inhibitor clade A member 1 is a biomarker of poor prognosis in gastric cancer.
25181470 2014 The Z mutation alters the global structural dynamics of ?1-antitrypsin.
25105300 2014 Regulation of autophagy by ?1-antitrypsin: "a foe of a foe is a friend".
25092677 2014 Increased neutrophil elastase and proteinase 3 and augmented NETosis are closely associated with ?-cell autoimmunity in patients with type 1 diabetes.
25070245 2014 ??-antitrypsin PiMZ heterozygosity has an independent aggravating effect on liver fibrosis in alcoholic liver disease.
25010111 2014 Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.
24892502 2014 The role and importance of glycosylation of acute phase proteins with focus on alpha-1 antitrypsin in acute and chronic inflammatory conditions.
24886427 2014 Serum concentration of alpha-1 antitrypsin is significantly higher in colorectal cancer patients than in healthy controls.
24848503 2014 Rapid renal alpha-1 antitrypsin gene induction in experimental and clinical acute kidney injury.
24840902 2014 Mixture-based combinatorial libraries from small individual peptide libraries: a case study on ?1-antitrypsin deficiency.
24760148 2014 Acute-phase protein ?1-antitrypsin--a novel regulator of angiopoietin-like protein 4 transcription and secretion.
24743137 2014 Active trafficking of alpha 1 antitrypsin across the lung endothelium.
24713750 2014 Challenging identification of a novel PiISF and the rare PiMmaltonZ ?1-antitrypsin deficiency variants in two patients.
24659849 2014 Identification of differentially expressed serum proteins in infectious purpura fulminans.
24582784 Alpha 1-antitrypsin therapy mitigated ischemic stroke damage in rats.
24518491 2014 Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis.
24502947 2014 Retarded protein folding of the human Z-type ??-antitrypsin variant is suppressed by Cpr2p.
24449466 2014 ?-1-antitrypsin inhibits acute liver failure in mice.
24428606 2014 Clarification of the risk of chronic obstructive pulmonary disease in ?1-antitrypsin deficiency PiMZ heterozygotes.
24286083 2013 The influence of cigarette smoking on gingival bleeding and serum concentrations of haptoglobin and alpha 1-antitrypsin.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24213563 2014 Interactions between SERPINA1 PiMZ genotype, occupational exposure and lung function decline.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
24140600 2013 Expression screening of bacterial libraries of recombinant alpha-1 proteinase inhibitor variants for candidates with thrombin inhibitory capacity.
24122823 2014 Increased prevalence of the alpha-1-antitrypsin (A1AT) deficiency-related S gene in patients infected with human immunodeficiency virus type 1.
24097797 2014 Increased ERK signalling promotes inflammatory signalling in primary airway epithelial cells expressing Z ?1-antitrypsin.
24047901 2013 Kinetic intermediates en route to the final serpin-protease complex: studies of complexes of ?1-protease inhibitor with trypsin.
24011266 2013 Investigation of CCL18 and A1AT as potential urinary biomarkers for bladder cancer detection.
23990791 2013 Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.
23953881 2014 Suppression of SERPINA1-albumin complex formation by galectin-3 overexpression leads to paracrine growth promotion of chronic myelogenous leukemia cells.
23837941 2014 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
23829472 2013 Human ?1-antitrypsin modifies B-lymphocyte responses during allograft transplantation.
23826168 2013 SERPINA2 is a novel gene with a divergent function from SERPINA1.
23766346 2013 A rare variant of ? 1 antitrypsin mutations detected in Vietnamese children with liver disease.
23744167 2013 Incidence of alpha-1 antitrypsin Z and S alleles in patients with granulomatosis with polyangiitis--pilot study.
23717456 2013 Pancreatic islet xenograft survival in mice is extended by a combination of alpha-1-antitrypsin and single-dose anti-CD4/CD8 therapy.
23648095 2013 Identification and characterization of ?1 -antitrypsin in fibrin clots.
23604680 2014 Alpha 1-antitrypsin activity is markedly decreased in Wegener's granulomatosis.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23381957 2013 Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
23376655 2013 Metabolism and metabolic burden by ?1-antitrypsin production in human AGE1.HN cells.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23342621 [Serum A1-antitrypsin levels in prostate pathology].
23299157 2013 Alpha 1-antitrypsin. A novel biomarker for obesity in humans.
23258471 2013 [Genetic variants of alpha-1 antitrypsin: classification and clinical implications].
23251618 2012 A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.
23226468 2012 Cytosolic, autocrine alpha-1 proteinase inhibitor (A1PI) inhibits caspase-1 and blocks IL-1? dependent cytokine release in monocytes.
23154425 2012 Homocysteine and alpha-1 antitrypsin concentration in patients with subclinical hypercortisolemia.
23144969 2012 Differential sialylation of serpin A1 in the early diagnosis of Parkinson's disease dementia.
23088986 2012 Diagnostic potential of urinary ?1-antitrypsin and apolipoprotein E in the detection of bladder cancer.
23067211 2013 Serum biomarkers analyzed by LC-MS/MS as predictors for short outcome of non-small cell lung cancer patients treated with chemoradiotherapy.
23017899 2012 Differential subcellular targeting of recombinant human ??-proteinase inhibitor influences yield, biological activity and in planta stability of the protein in transgenic tomato plants.
22995909 2012 Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of ?1-antitrypsin deficiency.
22993338 2012 SERPINA1 and ELA2 polymorphisms are not associated with COPD or lung cancer.
22971141 2012 Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.
22933512 2012 Prevalence of ?1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review.
22926906 2012 [The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in population of Central Poland--preliminary results from newborn screening].
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22912729 2012 SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort.
22896658 2012 Secretomic analysis identifies alpha-1 antitrypsin (A1AT) as a required protein in cancer cell migration, invasion, and pericellular fibronectin assembly for facilitating lung colonization of lung adenocarcinoma cells.
22841602 2012 Assessment of the clinical significance of antigenic and functional levels of ?1-proteinase inhibitor (?1-Pi) in infiltrating ductal breast carcinomas.
22821488 2012 Alpha 1-antitrypsin: a novel tumor-associated antigen identified in patients with early-stage breast cancer.
22808956 2012 Genetically distinct subsets within ANCA-associated vasculitis.
22793939 2012 Genes and chronic obstructive pulmonary disease.
22746289 2012 Lower circulation levels and activity of ?-1 antitrypsin in pregnant women with severe preeclampsia.
22735536 2012 Conformational properties of the disease-causing Z variant of ?1-antitrypsin revealed by theory and experiment.
22723858 2012 Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.
22708402 [The investigation of alpha1-antitripsin, orozomukoid and ceruloplasmin in peripheral blood and oral fluid. Paradontitis is one of more risk factors of cardiovascular diseases].
22634621 2012 ?-1 antitrypsin promotes semimature, IL-10-producing and readily migrating tolerogenic dendritic cells.
22590577 2012 In silico assessment of potential druggable pockets on the surface of ?1-antitrypsin conformers.
22555971 2012 Fecal calprotectin and alpha-1 antitrypsin predict severity and response to corticosteroids in gastrointestinal graft-versus-host disease.
22544422 2012 Null allele alpha-1 antitrypsin deficiency: case report of the total pleural covering technique for disease-associated pneumothorax.
22414631 2012 Fibromyalgia, mood disorders, and intense creative energy: A1AT polymorphisms are not always silent.
22392975 2012 Folding mechanism of the metastable serpin ?1-antitrypsin.
22363634 2012 ?1Proteinase inhibitor regulates CD4+ lymphocyte levels and is rate limiting in HIV-1 disease.
22356581 2012 Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.
22274560 Increased expression of alpha 1-anti-trypsin in the synovial tissues of patients with ankylosing spondylitis.
22215832 2012 ?1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.
22184992 [Molecular genetic studies in occupational medicine].
22171320 2012 Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.
22162908 2012 ?1-antitrypsin production by proinflammatory and antiinflammatory macrophages and dendritic cells.
22139150 2011 Therapeutic target-site variability in ?1-antitrypsin characterized at high resolution.
22115549 2011 Streptomyces erythraeus trypsin inactivates ?1-antitrypsin.
22075288 2011 Relation of functional characteristics and serum alpha-1-antitrypsin (AAT) concentration in patients with PiMM phenotype and chronic obstructive pulmonary disease (COPD).
22008137 [Place of genotyping in addition to the phenotype and the assay of serum ?-1 antitrypsin].
21976666 2011 Activating transcription factor 6 limits intracellular accumulation of mutant ?(1)-antitrypsin Z and mitochondrial damage in hepatoma cells.
21925577 2011 Polymorphisms of hemochromatosis, and alpha-1 antitrypsin genes in Egyptian HCV patients with and without hepatocellular carcinoma.
21909074 2011 Molecular basis of ?1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer.
21843112 2012 ?1-antitrypsin insufficiency is a possible contributor to preterm premature rupture of membranes.
21832065 2011 Importin beta interacts with the endoplasmic reticulum-associated degradation machinery and promotes ubiquitination and degradation of mutant alpha1-antitrypsin.
21821620 2011 ANCA-associated vasculitis is linked to carriage of the Z allele of ?? antitrypsin and its polymers.
21791445 2011 Alpha 1 antitrypsin phenotypes and obstructive airway disease in subjects over 65 years of age: QUID R cohort.
21786332 2011 Cutoff level to detect heterozygous alpha 1 antitrypsin deficiency in Turkish population.
21763297 2011 Combinatorial effect of TIMP-1 and ?1AT gene polymorphisms on development of chronic obstructive pulmonary disease.
21752289 2011 The prevalence of alpha-1 antitrypsin deficiency in Ireland.
21727732 Prevalence of ?-1-antitrypsin gene mutations in Saudi Arabia.
21702661 2011 The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and ?-1 anti-trypsin deficiency.
21698349 2012 Dilatation of the ascending aorta and serum alpha 1-antitrypsin level in patients with bicuspid aortic valve.
21670848 ?-1-antitrypsin gene delivery reduces inflammation, increases T-regulatory cell population size and prevents islet allograft rejection.
21575917 2011 C reactive protein and alpha1-antitrypsin: relationship between levels and gene variants.
21505264 2011 Spontaneous hepatic repopulation in transgenic mice expressing mutant human ?1-antitrypsin by wild-type donor hepatocytes.
21477074 2011 Alpha-1-antitrypsin is produced by human neutrophil granulocytes and their precursors and liberated during granule exocytosis.
21470421 2011 Identification of SERPINA1 as single marker for papillary thyroid carcinoma through microarray meta analysis and quantification of its discriminatory power in independent validation.
21335450 2011 SERPINA1 11478G?A variant, serum ?1-antitrypsin, exacerbation frequency and FEV1 decline in COPD.
21273701 2010 Alpha-1 antitrypsin phenotypes in patients with Klinefelter's syndrome.
21269460 2011 Initial characterization of the human central proteome.
21263074 2011 HIV replication in CD4+ T lymphocytes in the presence and absence of follicular dendritic cells: inhibition of replication mediated by ?-1-antitrypsin through altered I?B? ubiquitination.
21258324 2011 Dynamic local unfolding in the serpin ?-1 antitrypsin provides a mechanism for loop insertion and polymerization.
21173712 2011 Alpha1-antitrypsin deficiency carriers, serum alpha 1-antitrypsin concentration, and non-small cell lung cancer survival.
21138571 2010 Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency.
21138453 2011 Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of cholangiocarcinoma.
21134340 2010 HIV infection is associated with reduced serum alpha-1-antitrypsin concentrations.
21067581 2010 Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.
21060150 2010 ?-1 Antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8.
20886426 2010 [Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?].
20827781 2010 Alpha?-antitrypsin deficiency-related alleles Z and S and the risk of Wegener's granulomatosis.
20811639 2010 Linkage specific fucosylation of alpha-1-antitrypsin in liver cirrhosis and cancer patients: implications for a biomarker of hepatocellular carcinoma.
20739079 2010 Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease.
20736409 2010 Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
20667823 2010 Loop-sheet mechanism of serpin polymerization tested by reactive center loop mutations.
20666480 2010 Novel proteomic strategy reveal combined alpha1 antitrypsin and cathepsin D as biomarkers for colorectal cancer early screening.
20634282 2010 Accelerated spirometric decline in New York City firefighters with ??-antitrypsin deficiency.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20595457 2010 ??-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts.
20561599 2010 Cholesterol rich lipid raft microdomains are gateway for acute phase protein, SERPINA1.
20558996 2010 Pilot study on schizophrenia in Sardinia.
20521180 2011 Alpha-1-antitrypsin phenotypes and neutrophil elastase gene promoter polymorphisms in lung cancer.
20477988 2010 Role of the lectin VIP36 in post-ER quality control of human alpha1-antitrypsin.
20463814 2010 Elevation of intact and proteolytic fragments of acute phase proteins constitutes the earliest systemic antiviral response in HIV-1 infection.
20435667 2010 Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America.
20428906 2010 Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients.
20425789 2010 Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20371432 2010 Relationship between serum acute-phase proteins and high disease activity in patients with rheumatoid arthritis.
20298391 2009 Genetic and biochemical markers of obstructive lung disease in the general population.
20228200 2010 Evidence for unfolded protein response activation in monocytes from individuals with alpha-1 antitrypsin deficiency.
20226649 2010 Alpha-1-antitrypsin deficiency in the Cape Verde islands (Northwest Africa): High prevalence in a sub-Saharan population.
20170533 2010 Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study.
20150872 2010 The importance of alpha-1 antitrypsin (alpha1-AT) and neopterin serum levels in the evaluation of non-small cell lung and prostate cancer patients.
20119870 2011 Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.
20109307 Polymorphisms in the SERPINA1 (Alpha-1-Antitrypsin) gene are associated with severe chronic rhinosinusitis unresponsive to medical therapy.
20108056 2010 Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.
20086110 2010 Diagnosis of gastric malignancy using gastric juice alpha1-antitrypsin.
20049513 2010 Protease inhibitor SERPINA1 expression in epithelial ovarian cancer.
19961268 2009 Alpha-1-antitrypsin phenotypes in adult liver disease patients.
19956452 2009 Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19944704 2010 Kinetic instability of the serpin Z alpha1-antitrypsin promotes aggregation.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19902353 2010 A unique proteolytic fragment of alpha1-antitrypsin is elevated in ductal fluid of breast cancer patient.
19853488 2010 Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry.
19838169 2009 Enrichment of glycopeptides for glycan structure and attachment site identification.
19815548 2009 Calnexin phosphorylation attenuates the release of partially misfolded alpha1-antitrypsin to the secretory pathway.
19794310 2010 Influence of alpha-1 antitrypsin heterozygosity on treatment efficacy of HCV combination therapy.
19789190 2009 A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
19763368 2009 Is lysyl oxidase-like protein-1, alpha-1 antitrypsin, and neutrophil elastase site specific in pelvic organ prolapse?
19751191 2010 Genetic variants of alpha1-antitrypsin.
19747908 2010 Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.
19738092 2009 Genetic modifiers of liver disease in cystic fibrosis.
19729499 2009 CSF levels of PSA and PSA-ACT complexes in Alzheimer's disease.
19657220 2009 Genetic mutations in a Spanish population with chronic pancreatitis.
19628210 2009 Plasminogen activator inhibitor-1 4G/5G gene polymorphism in women with fetal loss.
19590686 2009 Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter.
19515129 2010 Cluster headache and Alpha 1-antitrypsin deficiency.
19437508 2009 Molecular characterization of the new defective P(brescia) alpha1-antitrypsin allele.
19417089 2009 HDL antielastase activity prevents smooth muscle cell anoikis, a potential new antiatherogenic property.
19398551 2009 Selenoprotein S/SEPS1 modifies endoplasmic reticulum stress in Z variant alpha1-antitrypsin deficiency.
19368725 2009 Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.
19344972 2009 Serum trypsin inhibitory capacity in normal pregnancy and gestational diabetes mellitus.
19306859 2009 Proteomics-based identification of alpha1-antitrypsin and haptoglobin precursors as novel serum markers in infiltrating ductal breast carcinomas.
19292870 2009 Alpha-1 antitrypsin binds preprohepcidin intracellularly and prohepcidin in the serum.
19251947 2009 Shed syndecan-1 restricts neutrophil elastase from alpha1-antitrypsin in neutrophilic airway inflammation.
19251783 2009 Lung deposition of inhaled alpha1-proteinase inhibitor in cystic fibrosis and alpha1-antitrypsin deficiency.
19197072 2009 Alpha-1-antitrypsin is an endogenous inhibitor of proinflammatory cytokine production in whole blood.
19181511 2009 Lung function in 30-year-old alpha-1-antitrypsin-deficient individuals.
19180336 2008 Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19129321 2009 Assessment of myeloperoxidase and oxidative alpha1-antitrypsin in patients on hemodialysis.
19115690 2008 The effect of combined therapy on activity of cathepsin D and alpha-1-antitrypsin in the blood serum of women with cervical cancer.
19073710 2009 Alpha 1 antitrypsin activity is decreased in human amnion in premature rupture of the fetal membranes.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19010440 2009 The alpha-1-antitrypsin gene promoter in human A549 lung derived cells, and a novel transcription initiation site.
18931508 2009 Heritability of lung function in severe alpha-1 antitrypsin deficiency.
18766166 2008 Alpha-1 antitrypsin (alpha1-AT) plasma levels in lung, prostate and breast cancer patients.
18725338 [Alpha 1 antitrypsin polymorphism associated to asthma and emphysema in a central Tunisian population].
18723439 2008 Alpha1-antitrypsin inhibits the activity of the matriptase catalytic domain in vitro.
18686007 2009 High-level expression of active human alpha1-antitrypsin in transgenic tobacco chloroplasts.
18609127 2008 Helicobacter pylori infection and short-term intake of low-dose aspirin have different effects on alpha-1 antitrypsin/alpha-1 peptidase inhibitor (alpha1-PI) levels in antral mucosa and peripheral blood.
18594986 2008 Serological proteomics of gastritis: degradation of apolipoprotein A-I and alpha1-antitrypsin is a common response to inflammation irrespective of Helicobacter pylori infection.
18550704 2008 Purification from human milk of matriptase complexes with secreted serpins: mechanism for inhibition of matriptase other than HAI-1.
18534053 Frequency of S and Z alleles for alpha-1-antitrypsin and tumor necrosis factor alpha -308 promoter polymorphism in northeastern Mexico.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18515255 2008 SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.
18504338 2008 Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk.
18495745 2008 Impact of plasminogen activator inhibitor-1 gene polymorphisms on primary membranous nephropathy.
18433707 2008 Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.
18353624 2008 Alpha-1 antitrypsin Null mutations and severity of emphysema.
18340647 2008 Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.
18309698 2007 PI S and PI Z alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data.
18294358 2008 Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis.
18283111 2008 Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.
18264947 2008 Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
18258845 2008 Impaired luminal processing of human defensin-5 in Crohn's disease: persistence in a complex with chymotrypsinogen and trypsin.
18164971 2008 Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population.
18089349 2007 Good and bad prognosis of alpha-1-antitrypsin deficiency in children: when to list for liver transplantation.
18060368 Immunomodulation by alpha(1)-proteinase inhibitor: lack of chemotactic effects of recombinant human alpha(1)-proteinase inhibitor from yeast on human peripheral blood granulocytes.
18031952 2008 Alpha 1 antitrypsin polymorphism in the Tunisian population with special reference to pulmonary disease.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18028276 2008 Ethanol dependence of alpha 1-antitrypsin C-terminal Lys truncation mediated by basic carboxypeptidases.
17972336 2008 A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.
17906067 2007 Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.
17855650 2007 Serpin peptidase inhibitor clade A member 1 as a potential marker for malignancy in insulinomas.
17727818 2007 Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases.
17693072 2007 The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland.
17688648 2007 alpha1-Antitrypsin deficiency is not an important cause of childhood liver diseases in a multi-ethnic Southeast Asian population.
17660256 2007 Probing the local conformational change of alpha1-antitrypsin.
17659342 2007 Art, alpha-1-antitrypsin polymorphisms and intense creative energy: blessing or curse?
17654345 2007 Alpha-1-antitrypsin (AAT) anomalies are associated with lung disease due to rapidly growing mycobacteria and AAT inhibits Mycobacterium abscessus infection of macrophages.
17650587 2007 An alpha-1 antitrypsin genetic variant from India.
17635928 2007 Regulator of G Signaling 16 is a marker for the distinct endoplasmic reticulum stress state associated with aggregated mutant alpha1-antitrypsin Z in the classical form of alpha1-antitrypsin deficiency.
17573378 Relationship between serum sialic acid and sialylated glycoproteins in alcoholics.
17380188 2007 Simultaneous induction of the four subunits of the TRAP complex by ER stress accelerates ER degradation.
17261591 2007 Alpha1-antitrypsin, old dog, new tricks. Alpha1-antitrypsin exerts in vitro anti-inflammatory activity in human monocytes by elevating cAMP.
17240615 2006 Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening.
17237579 2006 Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17204961 2007 High prevalence of alpha-1-antitrypsin heterozygosity in children with chronic liver disease.
17203708 2006 Alfa 1 antitrypsin and protease levels in Puerto Rican asthmatics: a pilot study.
17006922 2006 Alpha 1-antitrypsin mutations in NAFLD: high prevalence and association with altered iron metabolism but not with liver damage.
17003923 2006 Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population.
16979136 2006 Ubiquitin ligase gp78 increases solubility and facilitates degradation of the Z variant of alpha-1-antitrypsin.
16954950 2006 Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
16900211 2006 Serpin A1 is overexpressed in ALK+ anaplastic large cell lymphoma and its expression correlates with extranodal dissemination.
16887359 2006 Characterization of alpha1-antitrypsin as a heme oxygenase-1 suppressor in Alzheimer plasma.
16875754 2007 Impaired activity of serum alpha-1-antitrypsin in diabetes mellitus.
16859601 Epidemiology of Wegener's granulomatosis: Lessons from descriptive studies and analyses of genetic and environmental risk determinants.
16819398 2006 Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases? Interim results of a large case-control study.
16802007 2006 Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis.
16759229 2006 Human mesotrypsin exhibits restricted S1' subsite specificity with a strong preference for small polar side chains.
16622833 2006 Comprehensive glyco-proteomic analysis of human alpha1-antitrypsin and its charge isoforms.
16617455 2006 Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin.
16608528 2006 Genetic polymorphisms and susceptibility to lung disease.
16581345 2006 Correlation between serum prostate-specific antigen and alpha-1-antitrypsin in men without and with prostate cancer.
16540089 2006 Characterization and suppression of dysfunctional human alpha1-antitrypsin variants.
16531799 2006 Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16501672 2006 Relationship between alpha-1 antitrypsin deficient genotypes S and Z and lung cancer in Jordanian lung cancer patients.
16449194 2006 Neuronal cotransport of glycine receptor and the scaffold protein gephyrin.
16449193 2006 Salamander limb regeneration involves the activation of a multipotent skeletal muscle satellite cell population.
16387939 2006 Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.
16385367 [Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity].
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16339299 2006 Febrile-range temperature but not heat shock augments the acute phase response to interleukin-6 in human hepatoma cells.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16321984 2006 Active site distortion is sufficient for proteinase inhibition by serpins: structure of the covalent complex of alpha1-proteinase inhibitor with porcine pancreatic elastase.
16312203 2005 Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.
16278826 2006 Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
16263699 2006 Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.
16204591 2005 Results of a case-detection programme for alpha1-antitrypsin deficiency in COPD patients.
16192646 2005 Trypsin-2 degrades human type II collagen and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.
16183649 2005 Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.
16179568 2005 Fibrinolytic gene polymorphism and ischemic stroke.
16175011 2005 Plasminogen activator inhibitor-1 4G/5G polymorphism and efficacy of reperfusion therapy in acute myocardial infarction.
16172282 2005 Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels.
16137891 2005 Cytotoxic concentrations of alpha-defensins in the lungs of individuals with alpha 1-antitrypsin deficiency and moderate to severe lung disease.
16099106 2005 Aggrecanase-1 (ADAMTS-4) interacts with alpha1-antitrypsin.
16044402 2005 Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease.
16029614 2005 [The investigation of genotype and expression of alpha1-AT in patients with COPD].
16011217 Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.
15994391 2005 The protease inhibitor PI*S allele and COPD: a meta-analysis.
15927063 2005 Short-term variability of biomarkers of proteinase activity in patients with emphysema associated with type Z alpha-1-antitrypsin deficiency.
15853774 2005 Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity.
15845869 2005 Grp78, Grp94, and Grp170 interact with alpha1-antitrypsin mutants that are retained in the endoplasmic reticulum.
15820782 2005 Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease.
15820772 2005 Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran.
15795238 2005 Serine protease inhibitors serpina1 and serpina3 are down-regulated in bone marrow during hematopoietic progenitor mobilization.
15775753 2005 Health implications of alpha1-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New World.
15709777 2005 Alpha 1-antitrypsin polymerization: a fluorescence correlation spectroscopic study.
15681822 2005 Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo.
15674733 2005 Monoallelic expression of the protease inhibitor gene in humans, sheep, and cattle.
15659365 2005 Stability of mutant serpin/furin complexes: dependence on pH and regulation at the deacylation step.
15653097 2005 AAT as a diagnostic tool.
15612581 [Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases].
15532029 2004 Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.
15498560 2004 The C-terminal 26-residue peptide of serpin A1 stimulates proliferation of breast and liver cancer cells: role of protein kinase C and CD47.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15474273 2004 Alpha-1-antitrypsin levels and genetic variation of the alpha-1-antitrypsin gene in Peyronie's disease.
15454649 2004 Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15271889 2004 Alpha 1-antitrypsin binds to and interferes with functionality of EspB from atypical and typical enteropathogenic Escherichia coli strains.
15271689 2004 Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohort.
15266208 Genetic testing for alpha1-antitrypsin deficiency.
15131125 2004 Mutants of plasminogen activator inhibitor-1 designed to inhibit neutrophil elastase and cathepsin G are more effective in vivo than their endogenous inhibitors.
15100318 2004 Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.
15084671 2004 A proteomic analysis of human bile.
15079023 2004 Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissections.
15014966 2004 Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1.
14968215 2004 Alpha-1 antitrypsin phenotypes in patients with lung, prostate and breast cancer.
14766207 2004 A heat shock protein70 fusion protein with alpha1-antitrypsin in plasma of type 1 diabetic subjects.
14766206 2004 Divergent effects of alpha1-antitrypsin on neutrophil activation, in vitro.
14760718 2004 Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14639110 2003 MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele.
14616761 2003 Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America.
14551891 2003 Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?
14523999 2003 Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India.
12934194 2003 Local impairment of anti-neutrophil elastase capacity in community-acquired pneumonia.
12933574 2003 HIV-1 preferentially binds receptors copatched with cell-surface elastase.
12893950 2003 Levels of alpha1-antitrypsin in plasma and risk of spontaneous cervical artery dissections: a case-control study.
12878320 2003 Mechanisms of alpha1-antitrypsin inhibition of cellular serine proteases and HIV-1 protease that are essential for HIV-1 morphogenesis.
12878203 2003 Characterization of the enzymatic activity of human kallikrein 6: Autoactivation, substrate specificity, and regulation by inhibitors.
12860985 2003 Canonical inhibitor-like interactions explain reactivity of alpha1-proteinase inhibitor Pittsburgh and antithrombin with proteinases.
12815594 2003 Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay.
12815101 2003 Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation.
12796484 2003 The trafficking of alpha 1-antitrypsin, a post-Golgi secretory pathway marker, in INS-1 pancreatic beta cells.
12786756 2003 Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12689922 2003 Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.
12649292 2003 A novel mode of polymerization of alpha1-proteinase inhibitor.
12626422 2003 The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.
12612303 2003 Passive smoking and lung function in alpha(1)-antitrypsin heterozygote schoolchildren.
12608432 2003 Genomic DNA extraction from small amounts of serum to be used for alpha1-antitrypsin genotype analysis.
12578879 2003 Blood pressure, risk of ischemic cerebrovascular and ischemic heart disease, and longevity in alpha(1)-antitrypsin deficiency: the Copenhagen City Heart Study.
12528263 2002 Allele frequencies of alpha-1-antitrypsin (PI) in the Balkans.
12514663 2003 Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction.
12498804 2003 In vitro and in silico design of alpha1-antitrypsin mutants with different conformational stabilities.
12492914 2002 Analysis of two common alpha 1-antitrypsin deficiency alleles (PI*Z and PI*S) in subjects with periodontitis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464660 2002 Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy.
12464659 2002 Liver injury in alpha1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury.
12460583 2002 Acid Denaturation of alpha1-antitrypsin: characterization of a novel mechanism of serpin polymerization.
12452840 2002 A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis.
12372062 2002 Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis.
12368052 2002 Pi*S and Pi*Z alpha 1 antitrypsin polymorphism and the risk for asbestosis in occupational exposure to asbestos.
12324297 2002 Alpha(1)-antitrypsin and antichymotrypsin in human milk: origin, concentrations, and stability.
12244055 2002 Interactions causing the kinetic trap in serpin protein folding.
12223217 2002 Presence of alpha1-antitrypsin and transferrin in human follicular fluid--correlation with fertilization.
12119297 2002 Peptide substrate specificities and protein cleavage sites of human endometase/matrilysin-2/matrix metalloproteinase-26.
12114510 2002 Discriminating between the activities of human neutrophil elastase and proteinase 3 using serpin-derived fluorogenic substrates.
12083479 2002 Polymorphonuclear leucocytes have two opposing roles in fibrinolysis.
12023832 2002 Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin.
12023831 2002 Hypersensitive mousetraps, alpha1-antitrypsin deficiency and dementia.
11936950 2002 Oncostatin M induced alpha1-antitrypsin (AAT) gene expression in Hep G2 cells is mediated by a 3' enhancer.
11862702 [In vitro formation of triple-stranded DNA structures in the human alpha1-antitrypsin gene].
11848724 2002 Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population.
11785295 2001 [Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes].
11754061 2001 Molecular analysis of the Pi*Z allele in patients with liver disease.
11562937 2001 Pilot detection study of alpha(1) antitrypsin deficiency in a targeted population.
11436564 2001 [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol].
11427540 2001 A naturally occurring nonpolymerogenic mutant of alpha 1-antitrypsin characterized by prolonged retention in the endoplasmic reticulum.
11368345 2001 Effects of noninhibitory alpha-1-antitrypsin on primary human monocyte activation in vitro.
11317942 2000 Characterization and determination of the complex between prostate-specific antigen and alpha 1-protease inhibitor in benign and malignant prostatic diseases.
11295654 2001 Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.
11260148 2001 Alpha-1-antitrypsin is present in the specific granules of human eosinophilic granulocytes.
11202478 2001 Alpha1-antitrypsin deficiency: biological answers to clinical questions.
11199103 2001 Genetics of chronic obstructive pulmonary disease.
11178897 2001 A 2.1 A resolution structure of an uncleaved alpha(1)-antitrypsin shows variability of the reactive center and other loops.
11148177 2001 Molecular diagnosis of intermediate and severe alpha(1)-antitrypsin deficiency: MZ individuals with chronic obstructive pulmonary disease may have lower lung function than MM individuals.
11131449 2000 Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ.
11057674 2000 Structure of a serpin-protease complex shows inhibition by deformation.
11034936 2000 Platelet Pl(A2) allele and incidence of coronary heart disease: results from the Atherosclerosis Risk In Communities (ARIC) Study.
10933492 2000 Topography of a 2.0 A structure of alpha1-antitrypsin reveals targets for rational drug design to prevent conformational disease.
10867014 2000 Oxidation of either methionine 351 or methionine 358 in alpha 1-antitrypsin causes loss of anti-neutrophil elastase activity.
10716194 2000 Cleaved antitrypsin polymers at atomic resolution.
10708851 2000 S-nitrosylated human alpha(1)-protease inhibitor.
10677536 2000 Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency.
10651487 1998 Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in brief no. 174. Online.
10612848 2000 A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country.
9545340 1998 Involvement of Sp1 elements in the promoter activity of the alpha1-proteinase inhibitor gene.
9466920 1998 Wild-type alpha 1-antitrypsin is in the canonical inhibitory conformation.
9459000 1997 A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties.
9079644 1997 Biosynthesis of alpha1-proteinase inhibitor by human lung-derived epithelial cells.
8939743 1996 The native strains in the hydrophobic core and flexible reactive loop of a serine protease inhibitor: crystal structure of an uncleaved alpha1-antitrypsin at 2.7 A.
8756325 1996 Inhibitory conformation of the reactive loop of alpha 1-antitrypsin.
8543039 1995 Crystal structure of an uncleaved alpha 1-antitrypsin reveals the conformation of its inhibitory reactive loop.
8364590 1993 Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.
8358043 1993 PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan.
8323530 1993 Sequencing of a urinary stone protein, identical to alpha-one antitrypsin, which lacks 22 amino acids.
8076819 1994 The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression.
7980522 1994 Matrilysin is much more efficient than other matrix metalloproteinases in the proteolytic inactivation of alpha 1-antitrypsin.
7977369 1994 Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.
7566098 1995 Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.
7045697 1982 Structure and variation of human alpha 1-antitrypsin.
7031661 1981 Cloning and sequence of cDNA coding for alpha 1-antitrypsin.
6983488 1982 Interaction of human alpha 1-proteinase inhibitor with chymotrypsinogen A and crystallization of a proteolytically modified alpha 1-proteinase inhibitor.
6982267 1982 The biosynthesis of rat alpha 1-antitrypsin.
6980881 1982 Proteolytic cleavage and inactivation of alpha 2-plasmin inhibitor and C1 inactivator by human polymorphonuclear leukocyte elastase.
6979715 1982 Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes.
6976274 1981 Human alpha 1-antitrypsin: carbohydrate attachment and sequence homology.
6966283 1980 Studies on the oligosaccharide chains of human alpha 1-protease inhibitor. II. Structure of oligosaccharides.
6604220 1983 Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.
6387509 1984 Synthesis in yeast of a functional oxidation-resistant mutant of human alpha-antitrypsin.
6333329 1984 Revised sequence of full-length complementary DNA coding for human alpha 1-antitrypsin.
6332197 1984 Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function.
6322161 1984 High-level production of biologically active human alpha 1-antitrypsin in Escherichia coli.
6319097 1983 Cloning and expression in Escherichia coli of full-length complementary DNA coding for human alpha 1-antitrypsin.
6191979 1983 Radioimmunoassay of human pancreatic elastase 1. In vitro interaction of human pancreatic elastase 1 with serum protease inhibitors.
6153632 1980 Interaction between human pancreatic elastase and plasma protease inhibitors.
6093867 1984 Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant.
3876243 1985 Alpha 1-antitrypsin and serum albumin mRNA accumulation in normal, acute phase and ZZ human liver.
3873938 1985 Construction and partial characterization of a human liver cDNA library.
3500042 1987 The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes.
3491072 1986 Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.
3490426 1986 Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).
3262617 1988 Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida.
3257351 1988 Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
2985281 1985 Cell-specific expression of a transfected human alpha 1-antitrypsin gene.
2901226 1988 Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.
2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.
2786335 1989 In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.
2785270 1989 The S variant of human alpha 1-antitrypsin, structure and implications for function and metabolism.
2784123 1989 A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.
2696185 1989 The alpha 1-antitrypsin gene and its deficiency states.
2669992 1989 Alpha 1-antitrypsin: structure, function and molecular biology of the gene.
2610933 1989 Human cationic and anionic trypsins: differences of interaction with alpha 1-proteinase inhibitor.
2606478 1989 Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).
2539391 1989 Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.
2394452 1990 Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
2390072 1990 Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.
2339709 1990 Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
2316526 1990 Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.
2309708 1990 Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.
2254451 1990 A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.
2227940 1990 Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
2035534 1991 Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
1975477 1990 Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.
1967187 1990 Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.
1906855 1991 Characterization of a 54 kDa, alpha 1-antitrypsin-like protein isolated from ascitic fluid of an endometrial cancer patient.
1905728 1991 Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.
1859394 1991 The molecular genetics of alpha 1 antitrypsin deficiency.
1602151 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.
1429867 1992 Alpha-1 antitrypsin response of stimulated alveolar macrophages.
1406456 1992 Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta.
1079736 1975 The interaction of alpha-1-antitrypsin with chymotrypsin, trypsin and elastase.
59727 1976 Platelet alpha2-macroglobulin and alpha1-antitrypsin.