Property Summary

NCBI Gene PubMed Count 164
PubMed Score 1233.58
PubTator Score 984.86

Knowledge Summary


No data available


  Disease (5)

Disease Target Count P-value
lung carcinoma 2844 9.7e-40
juvenile dermatomyositis 1189 6.1e-16
non-small cell lung cancer 2798 3.9e-14
glioblastoma multiforme 347 1.4e-13
pilocytic astrocytoma 3086 5.7e-12
lung adenocarcinoma 2714 1.7e-11
ovarian cancer 8491 9.6e-11
posterior fossa group A ependymoma 1511 1.8e-10
malignant mesothelioma 3163 3.5e-10
pituitary cancer 1972 1.2e-08
breast carcinoma 1614 1.5e-08
Duchenne muscular dystrophy 602 1.1e-07
lung cancer 4473 5.0e-06
limb girdle muscular dystrophy 2A 156 2.0e-05
ulcerative colitis 2087 2.1e-05
adrenocortical carcinoma 1427 6.4e-05
cystic fibrosis 1670 7.9e-05
psoriasis 6685 1.1e-04
fibroadenoma 557 2.1e-04
intraductal papillary-mucinous neoplasm (IPMN) 3289 2.1e-04
acute quadriplegic myopathy 1157 2.3e-04
ductal carcinoma in situ 1745 3.8e-04
invasive ductal carcinoma 2950 7.0e-04
atypical teratoid / rhabdoid tumor 4369 1.0e-03
sarcoidosis 368 1.1e-03
intraductal papillary-mucinous adenoma (IPMA) 2956 2.1e-03
adult high grade glioma 2148 3.1e-03
tuberculosis 1563 3.7e-03
intraductal papillary-mucinous carcinoma (IPMC) 2988 6.1e-03
systemic lupus erythematosus 172 8.8e-03
sonic hedgehog group medulloblastoma 1482 1.0e-02
autosomal dominant Emery-Dreifuss muscular dystrophy 499 1.0e-02
subependymal giant cell astrocytoma 2287 1.2e-02
gastric carcinoma 832 1.3e-02
Breast cancer 3098 1.7e-02
chronic kidney disease 90 1.8e-02
pancreatic ductal adenocarcinoma liver metastasis 1795 2.0e-02
dermatomyositis 966 2.1e-02
primitive neuroectodermal tumor 3031 2.4e-02
Multiple Sclerosis 498 3.9e-02
Polycystic Ovary Syndrome 334 4.6e-02
Disease Target Count Z-score Confidence
Hereditary angioedema 4 0.0 5.0


  Differential Expression (41)

Disease log2 FC p
systemic lupus erythematosus 1.400 8.8e-03
malignant mesothelioma -6.300 3.5e-10
psoriasis -1.100 1.1e-04
glioblastoma multiforme 1.700 1.4e-13
posterior fossa group A ependymoma 2.400 1.8e-10
atypical teratoid / rhabdoid tumor 1.500 1.0e-03
primitive neuroectodermal tumor 1.200 2.4e-02
Duchenne muscular dystrophy 1.679 1.1e-07
limb girdle muscular dystrophy 2A 1.305 2.0e-05
autosomal dominant Emery-Dreifuss muscul... 1.233 1.0e-02
juvenile dermatomyositis 2.189 6.1e-16
acute quadriplegic myopathy 1.375 2.3e-04
adrenocortical carcinoma -2.357 6.4e-05
chronic kidney disease 1.300 1.8e-02
tuberculosis 2.500 3.7e-03
pancreatic ductal adenocarcinoma liver m... -2.161 2.0e-02
non-small cell lung cancer -1.391 3.9e-14
intraductal papillary-mucinous adenoma (... -2.600 2.1e-03
intraductal papillary-mucinous carcinoma... -2.700 6.1e-03
intraductal papillary-mucinous neoplasm ... -3.200 2.1e-04
lung cancer -2.700 5.0e-06
fibroadenoma -1.300 2.1e-04
Multiple Sclerosis 1.600 3.9e-02
cystic fibrosis 2.500 7.9e-05
adult high grade glioma 1.600 3.1e-03
pilocytic astrocytoma 2.800 5.7e-12
sonic hedgehog group medulloblastoma 1.100 1.0e-02
sarcoidosis 1.400 1.1e-03
subependymal giant cell astrocytoma 1.812 1.2e-02
lung adenocarcinoma -1.800 1.7e-11
Breast cancer -1.400 1.7e-02
Polycystic Ovary Syndrome 1.600 4.6e-02
lung carcinoma -3.300 9.7e-40
breast carcinoma -1.100 1.5e-08
gastric carcinoma 1.500 1.3e-02
ductal carcinoma in situ -1.500 3.8e-04
invasive ductal carcinoma -1.700 7.0e-04
ulcerative colitis 2.300 2.1e-05
ovarian cancer -3.700 9.6e-11
pituitary cancer -2.700 1.2e-08
dermatomyositis 1.200 2.1e-02

 GWAS Trait (1)

 CSPA Cell Line (1)

Protein-protein Interaction (7)

Gene RIF (109)

26895475 This family-based study provides the first evidence that multiple amino acid substitutions in SERPING1 could influence Hereditary angioedema due to C1-inhibitor deficiency phenotype
26890881 the ratio of serum proteoglycan 4 to protease C1 inhibitor may be used for screening of early breast cancer.
26812872 This study represents the first Brazilian HAE cohort evaluated for SERPING1 gene mutations and it introduces the possibility to perform genetic analysis in case of need for differential diagnosis.
26782794 Enhancement of C1INH activity was not observed in the refractory septic shock patients, and the C1INH quantitative values were low.
26535898 Novel mutations in the SERPING1 gene are linked to Hereditary Angioedema.
26476955 Suggest that endogenous C1-inhibitor is likely involved in the regulation of complement activity in the myocardium following acute myocardial infarction.
26371246 The levels of MASP-1 and MASP-1/C1-INH complexes are reduced in HAE patients compared with controls. Both MASP-1 and MASP-1/C1-INH complexes are related to the degree of complement C4 consumption
26347576 Studied human C1INH and found at therapeutically relevant doses, it blocks malaria parasite invasion and cytoadhesion.
26154504 SERPING1 mutations in Norwegian patients with Hereditary angioedema with C1 inhibitor deficiency, are reported.
25800435 SERPING1 is not a major genetic component of AMD or PCV in East Asians but is a genetic risk factor for AMD in Caucasians, providing evidence for an ethnic diversity in the genetic etiology of AMD.
25800206 Suggest C1-inh polymers activate the FXII-dependent kallikrein-kinin system in hereditary angioedema.
25369003 C1-inh polymers are present in the plasma of a subgroup of hereditary angioedema type I patients.
25352749 SERPING1 rs2511989 polymorphism may have a positive effect on the risk of age-related macular degeneration, especially among Caucasians.
25208595 Our case report demonstrates that children at a relatively early age can acquire the skills to practice intravenous administration of C1IHN concentrate independent of adult supervision.
25053016 PBMCs extracted from controls, HAE-I and HAE-II patients presented identical methylation status of the SERPING1 promoter when analyzed by bisulphite sequencing
24565773 Dose escalation of nanofiltered C1 inhibitor (human) up to 2500 U was well tolerated and reduced attack frequency in the majority of hereditary angioedema patients.
24468257 Relief of symptoms of Hereditary angioedema attacks is achieved faster with recombinant human C1INH compared with placebo as assessed by the treatment effect questionnaire and visual analog scale, with a positive safety profile.
24456027 A series of 22 different mutations was identified of C1NH gene in Italian patients with hereditary angioedema.
24412907 study identified and characterized a new mutation in SERPING1 gene in a Spanish family with hereditary angioedema; the mutation (c.685 + 2 T > A) disrupts the donor splice site of intron 4 leading to the loss of exon 4 in mutant mRNA
24262729 Women with recurrent angioedema unresponsive to antihistamines may have idiopathic angioedema or, more rarely, hereditary angioedema with F12 mutations. Both conditions may be provoked or aggravated by exogenous estrogens.
23966370 SERPING1 does not play a significant role in the development of AU.
23688413 This is the first report of a patient with hereditary angioedema due to a homozygous de novo null mutation of the C1NH gene.
23607270 plays a role in activating coagulation during sepsis
23583915 Identification of a novel and recurrent mutation in the SERPING1 gene in Sardinian patients with hereditary angioedema
23437219 Our study identified four novel mutations in the Slovenian HAE population, highlighting the heterogeneity of mutations in the SERPING1 gene causing C1 inhibitor deficiency and Hereditary angioedema .
23399388 In the presence of heparin both C1-inh and AT are equally efficient inhibitors of the lectin pathway.
23383108 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of serpin peptidase inhibitor, clade G, member 1 (SERPING1) in peptide-treated PBMCs
23318225 Ficolin-2, -3, and MAP-1 correlated negatively with the annual requirement of plasma derived C1-inhibitor concentrate.
23265861 study established that the missense mutations of the C1INH gene are associated with a less severe form of hereditary angioedema
23123409 The prevalence of the SERPING1missense mutation p.Arg444Cys was 39 out of 42 among Portuguese patients with hereditary angioedema.
22994404 nonsense, frameshift, and mutations on Arg466 can cause lower level of C1 inhibitor antigen than missense and in-frame mutations; however, it does not affect severity of symptoms.
22882460 identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) in exon 8 in a large Chinese family with hereditary angioedema type I
22831796 Letter: Report C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema.
22456345 analysis of the 10-14 weeks' plasma samples showed the presence of a protein of mass 100.3 kDa that was elevated in the Down's syndrome group compared to the controls. This protein was identified as being plasma protease C1 inhibitor.
22456031 A deficiency of complement component 1 (C1) esterase inhibitor leads to overproduction of vasoactive kinins that cause angioedema. Review.
22276768 Hereditary angioedema a rare inherited disease with C1 complement inhibitor protein expression.
22230421 Case Report: Report acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies.
22078245 C1inh significantly protects against early vein graft remodeling, including loss of endothelium and intimal thickening.
22014012 Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency.
22001489 The results of these studies provide new data about C1 inhibitor expression in hereditary angioedema patients and shed more light on the transcriptional regulation of the SERPING1 locus.
21864911 These results highlight the heterogeneity of mutations in the C1NH gene causing C1Inh deficiency and Hereditary angioedema
21852020 Genetic variation in the promoter region of the SERPING1 gene may influence expression of complement component C1 inhibitor in age-related macular degeneration.
21695123 Vag8 binds C1inh to the surface of the bacterium and confers serum resistance.
21623829 We have identified a novel mutation at the C1 inhibitor gene, c.351delC, which link to the development of hereditary angioedema in patients from a Brazilian family.
21526158 SERPING1 does not play a significant role in the risk of developing age-related macular degeneration or polypoidal choroidal vasculopathy in Japanese.
21345278 [review] C1 INH is a multifaceted anti-inflammatory protein that exerts its effects through a variety of mechanisms that may or may not depend on protease inhibition via bonding or other non-covalent interactions with proteins, cell surfaces, or lipids.
20804470 Thirteen new mutations were identified in the Danish hereditary angioedema population. No correlation between the c.-21T>C polymorphism, the biochemical values of C1 inhibitor function and the clinical severity score was found.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20628624 Meta-analysis of gene-disease association. (HuGE Navigator)
20606025 SERPING1 SNPs rs1005510, rs2511989 were associated with neovascular age-related macular degeneration, rs1005510 conferring an adverse risk effect (OR 1.49, 95% CI 1.18 to 1.88) & rs2511989 conferring a protective effect (OR 0.73, 95% CI 0.59 to 0.90)
20606025 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20576771 Results implicate SERPING1, with no convincing evidence for involvement of other genes neighbouring SERPING1 and examined haplotype association with age-related macular degeneration.
20576771 Observational study of gene-disease association. (HuGE Navigator)
20532227 Show that B. recurrentis spirochetes express another potential outer membrane lipoprotein, termed CihC, and acquire C4b-binding protein (C4bp) and human C1 esterase inhibitor (C1-Inh).
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20351192 Complement C1 inhibitor and its variants inhibit the ability of C1r-like protease to activate C1s, but do not form covalent complexes with this protease.
20306692 The polymorphism /heterozygous GTG 458 ATG (Val 458 Met) in exon 8/ and one-nucleotide deletion in codon 456 in Exon 8 in patients with hereditary angioedema
20237496 Observational study of gene-disease association. (HuGE Navigator)
20161815 No evidence was found to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to polypoidal choroidal vasculopathy in a Chinese Han population.
20161815 Observational study of gene-disease association. (HuGE Navigator)
20120775 Newly found C1 inhibitor gene mutation in hereditary angioedema patients.
20062564 Single nucleotide polymorphisms in SERPING1 are not significantly associated with age-related macular degeneration in the mainland Han Chinese population.
20062564 Observational study of gene-disease association. (HuGE Navigator)
20024535 Hereditary angiodema 5esults from the deficiency of the Complement C1 Inhibitor gene.
20016407 Stduy find an association and linkage of the IL4 -524 and the C1INH 480 polymorphisms with susceptibility to meningococcal infection.
20016407 Observational study of gene-disease association. (HuGE Navigator)
19925520 We did not find a significant association between SERPING1 and exudative age-related macular degeneration in our study
19752569 The study of C1NH gene mutations in Middle Eastern Arab hereditary angioedema patients suggests that despite the numerous existing mutations in the C1NH gene, there are novel and recurrent mutations in patients of non-European origin.
19706314 study constitutes the first molecular analysis of hereditary angioedema (HAE) in Greece, where 11 patients from three unrelated families with recurrent angioedema attacks and decreased C1 inhibitor antigenic levels were analyzed for SERPING1 mutations.
19607829 C1INH protein is present in the retina and choroid, where it may regulate complement activation.
19423540 Observational study of gene-disease association. (HuGE Navigator)
19344414 Observational study of gene-disease association. (HuGE Navigator)
19201015 study describes the second autosomal recessive family with a novel mutation affecting the C1INH promoter region (c.-101A>G); identified sequence alteration in homozygous form causes moderate-to-severe life-threatening Hereditary angioedema symptoms
19169411 This study was performed to replicate the association between SERPING1 and age-related macular degeneration.
19169411 Observational study of gene-disease association. (HuGE Navigator)
18842294 Observational study of gene-disease association. (HuGE Navigator)
18758157 results corroborate C1INH (SERPING1) deficiency as a disease of extreme allelic heterogeneity with almost each individual family carrying their own mutation
18586324 Identification of a large number of new mutations related to hereditary angioedema providing additional evidence of the genetic heterogeneity of this disease.
18535392 A new missense mutation in exon 2 of the C1-INH gene, c.1A>G; p.Met-22Val (p.Met1Val), in a heterozygous form was detected in 4 Greek patients of the same family.
18035804 study found a single nucleotide A deletion at codon 210 of the SERPING1 gene, 1210fsX210, a novel mutation that accounts for hereditary angioedema in a Taiwanese family
18022239 iC1INH has an anti-vascular permeability independent on the serpin function.
17976427 The diagnosis and clinical features of hereditary angioedema with normal SERPING1 levels are reported in 138 patients.
17916775 Determining C1-INH levels at 6 weeks after carotid endarterectomy and genotyping of MBL2 might be useful in the identification of patients at high risk for early restenosis.
17908769 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17709141 MASP-2 is a major physiological target of C1-inhibitor.
17521609 These findings indicate a novel role for C1INH in inhibition of vascular endothelial activation.
17502473 Hereditary C1INH deficiency should be included in the differential diagnosis of nonsystemic vasculitis neuropathy.
17498209 These findings suggest that susceptibility to S. aureus nasal carriage is associated with the C1INH V480M polymorphism.
17488724 analysis of the first crystal structure of the serpin domain of human C1 inhibitor, representing a previously unreported latent form
17230419 results demonstrate that the ability of Bordetella pertussis to acquire high levels of C1inh & wild-type levels of serum resistance are well correlated, suggesting acquisition of C1inh is vital to B. pertussis resistance to complement-mediated killing
16617246 We suppose that the mutation within the 3'UTR (C1-INH protein) interferes with integral pathways of gene expression leading to pathogenic haploinsufficiency in this family.
16470590 mutations affecting splicing of exon 2 of the SERPING1/C1NH gene may have different consequences in monocytes versus other cell types
15971231 SERPING1/C1NH mutations in coding regions differ from the canonical splice sites that affect splicing, which suggests the presence of an exonic splicing enhancer
15879149 Direct involvement of C1INH in modulation of selectin-mediated cell adhesion may be an important mechanism in the physiologic suppression of inflammation.
15607116 the N-glycans of C1NH from patients with a heterozygous C1NH genetic deficiency were small, highly charged and lacked sialidase releasable N-acetylneuraminic acid in comparison with N-glycans from normal individuals
15596403 The physiopathology of hereditary angioedema associated with deficiency of this protein, with particular attention to the complement pathway.
15596402 The physiopathology of hereditary angioneurotic edema associated with a deficiency of this protein.
15583734 the amino-terminal domain of C1-inhibitor has a role in inhibition of plasma kallikrein
15356570 significantly and similarly reduced in PMBCs of patients with type I and type II Hereditary angioedema (40% and 47%, respectively; P <.0001)
15325085 HIV-1 protease cleavage site was found in N-terminal region of C1-inhibitor, and it was located between residues Leu-32 and Phe-33
15325085 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of serpin peptidase inhibitor, clade G, member 1 (SERPING1) in peptide-treated PBMCs
14568956 Plasma C1INH expresses sialyl Lewis(x)-related moieties on its N-linked glycan, can bind to P- and E-selectins, and significantly inhibits in vitro leukocyte-endothelial cell adhesion in a dose-dependent manner.
12773530 functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain
12539042 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of serpin peptidase inhibitor, clade G, member 1 (SERPING1) in peptide-treated PBMCs
12492481 Amidolytic activity was, however, present on HUVEC incubated with plasma indicating that the endogenous C1-INH did not completely abolish the activity of FXIIa generated during the incubation period
12421980 Study of stringently regulated expression of endogenous and transgenic human C1NH gene reveals local biosynthesis of C1 inhibitor at multiple sites in which the components of the macromolecular C1 complex are also produced.
11933207 Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
11437612 The soluble fraction of an N-terminally truncated recombinant C1-Inh produced in E. coli strain AD494(DE3) enabling disulfide bond formation inhibits C1s target protease in functional assays.

AA Sequence

FMGRVYDPRA                                                                491 - 500

Text Mined References (175)

PMID Year Title
26895475 2016 Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain.
26890881 2016 Unmasking Heavily O-Glycosylated Serum Proteins Using Perchloric Acid: Identification of Serum Proteoglycan 4 and Protease C1 Inhibitor as Molecular Indicators for Screening of Breast Cancer.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26812872 2016 New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
26782794 2016 Serial change of C1 inhibitor in patients with sepsis--a preliminary report.
26535898 2015 Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
26476955 Endogenous C1-inhibitor production and expression in the heart after acute myocardial infarction.
26371246 2015 The Levels of the Lectin Pathway Serine Protease MASP-1 and Its Complex Formation with C1 Inhibitor Are Linked to the Severity of Hereditary Angioedema.
26347576 2016 Human C1-Inhibitor Suppresses Malaria Parasite Invasion and Cytoadhesion via Binding to Parasite Glycosylphosphatidylinositol and Host Cell Receptors.
26154504 2015 A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
25800435 2015 Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy.
25800206 2015 C1-inhibitor polymers activate the FXII-dependent kallikrein-kinin system: Implication for a role in hereditary angioedema.
25369003 2014 Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.
25352749 2014 Relationship between SERPING1 rs2511989 polymorphism and age-related macular degeneration risk: a meta-analysis.
25208595 Hereditary angioedema: children should be considered for training in self-administration.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
25053016 2014 Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency.
24565773 Escalating doses of C1 esterase inhibitor (CINRYZE) for prophylaxis in patients with hereditary angioedema.
24468257 2014 Recombinant human C1-esterase inhibitor relieves symptoms of hereditary angioedema attacks: phase 3, randomized, placebo-controlled trial.
24456027 2014 Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
24412907 2014 Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262729 2013 Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
23966370 2013 Association of CFH and SERPING1 polymorphisms with anterior uveitis.
23688413 2013 De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema.
23607270 2013 C1-inhibitor efficiently inhibits Escherichia?coli-induced tissue factor mRNA up-regulation, monocyte tissue factor expression and coagulation activation in human whole blood.
23583915 2013 Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23437219 2013 Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.
23399388 2013 The control of the complement lectin pathway activation revisited: both C1-inhibitor and antithrombin are likely physiological inhibitors, while ?2-macroglobulin is not.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23318225 2013 The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency.
23265861 2013 Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23234360 2013 LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins.
23123409 2013 Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.
22994404 2012 Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
22882460 2012 A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I.
22831796 2012 Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22456345 2012 Identification of new biomarkers for Down's syndrome in maternal plasma.
22456031 2012 Hereditary and acquired complement component 1 esterase inhibitor deficiency: a review for the hematologist.
22276768 Hereditary angioedema in childhood: a challenging diagnosis you cannot afford to miss.
22230421 Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies.
22171320 2012 Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.
22078245 2012 C1-esterase inhibitor protects against early vein graft remodeling under arterial blood pressure.
22014012 2011 Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency.
22001489 2012 Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.
21864911 2011 SERPING1 mutations in 59 families with hereditary angioedema.
21852020 2012 Variation in complement component C1 inhibitor in age-related macular degeneration.
21695123 2011 Bordetella pertussis autotransporter Vag8 binds human C1 esterase inhibitor and confers serum resistance.
21623829 2011 A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.
21526158 2011 Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.
21345278 2011 Bench-to-bedside review: the role of C1-esterase inhibitor in sepsis and other critical illnesses.
20804470 2011 Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20736409 2010 Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
20628624 2010 Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
20606025 2010 The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration.
20576771 2010 Determination of a gene and environment risk model for age-related macular degeneration.
20532227 2010 Human complement regulators C4b-binding protein and C1 esterase inhibitor interact with a novel outer surface protein of Borrelia recurrentis.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20351192 2010 Functional characterization of the recombinant human C1 inhibitor serpin domain: insights into heparin binding.
20306692 2008 New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20161815 2010 SERPING1 polymorphisms in polypoidal choroidal vasculopathy.
20120775 2009 Newly found C1 inhibitor gene mutation in hereditary angioedema patients.
20062564 2010 An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population.
20024535 2010 The effect of long-term danazol prophylaxis on liver function in hereditary angioedema-a longitudinal study.
20016407 2010 Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations.
19925520 2011 Analysis of SERPING1 and its association with age-related macular degeneration.
19838169 2009 Enrichment of glycopeptides for glycan structure and attachment site identification.
19752569 2010 Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.
19706314 2009 Hereditary angioedema in Greek families caused by novel and recurrent mutations.
19607829 2009 Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19344414 2009 Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
19201015 2009 A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene.
19169411 2009 Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.
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.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18842294 2008 Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.
18758157 2008 Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
18586324 2008 Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
18535392 2008 Molecular diagnosis and management of hereditary angioedema in a Greek family.
18035804 Hereditary angioedema: a Taiwanese family with a novel gene mutation.
18022239 2008 Anti-vascular permeability of the cleaved reactive center loop within the carboxyl-terminal domain of C1 inhibitor.
17976427 2007 Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course.
17916775 2007 Low c1-inhibitor levels predict early restenosis after eversion carotid endarterectomy.
17908769 2007 Genetic polymorphisms in immunoresponse genes TNFA, IL6, IL10, and TLR4 are associated with recurrent acute otitis media.
17709141 2008 Elucidation of the substrate specificity of the MASP-2 protease of the lectin complement pathway and identification of the enzyme as a major physiological target of the serpin, C1-inhibitor.
17521609 2007 Suppression of complement regulatory protein C1 inhibitor in vascular endothelial activation by inhibiting vascular cell adhesion molecule-1 action.
17502473 2007 Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.
17498209 2007 Association between nasal carriage of Staphylococcus aureus and the human complement cascade activator serine protease C1 inhibitor (C1INH) valine vs. methionine polymorphism at amino acid position 480.
17488724 2007 C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease.
17230419 2007 Bordetella pertussis binds human C1 esterase inhibitor during the virulent phase, to evade complement-mediated killing.
16617246 2006 Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16470590 2006 Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
16409206 2006 Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16237761 2005 Screening of hepatocyte proteins binding to F protein of hepatitis C virus by yeast two-hybrid system.
16040958 2005 N-linked glycosylation at Asn3 and the positively charged residues within the amino-terminal domain of the c1 inhibitor are required for interaction of the C1 Inhibitor with Salmonella enterica serovar typhimurium lipopolysaccharide and lipid A.
15971231 2005 Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
15879149 2005 A direct role for C1 inhibitor in regulation of leukocyte adhesion.
15607116 2004 Metabolic alteration of the N-glycan structure of a protein from patients with a heterozygous protein deficiency.
15596403 2005 The pathophysiology of hereditary angioedema.
15596402 2005 Why HAE?
15583734 2004 Inhibition of plasma kallikrein by C1-inhibitor: role of endothelial cells and the amino-terminal domain of C1-inhibitor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15356570 2004 C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR.
15325085 2004 Identification of HIV-1 protease cleavage site in human C1-inhibitor.
15096536 2004 Potentiation of C1 esterase inhibitor by StcE, a metalloprotease secreted by Escherichia coli O157:H7.
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.
14635117 2003 Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
14568956 2003 Complement regulatory protein C1 inhibitor binds to selectins and interferes with endothelial-leukocyte adhesion.
12773530 2003 The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12539042 2003 HIV-1 Tat reprograms immature dendritic cells to express chemoattractants for activated T cells and macrophages.
12492481 2003 Binding of activated Factor XII to endothelial cells affects its inactivation by the C1-esterase inhibitor.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421980 2002 In vivo biosynthesis of endogenous and of human C1 inhibitor in transgenic mice: tissue distribution and colocalization of their expression.
12123444 2002 StcE, a metalloprotease secreted by Escherichia coli O157:H7, specifically cleaves C1 esterase inhibitor.
11933207 2002 Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
11527969 2001 Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2.
11460008 2001 In vitro interaction of C1-inhibitor with thrombin.
11437612 2001 Expression of active human C1 inhibitor serpin domain in Escherichia coli.
10946292 2000 Proteolytic activities of two types of mannose-binding lectin-associated serine protease.
10570951 1999 Hepatitis C virus NS3 serine protease interacts with the serpin C1 inhibitor.
9882449 1999 Heparin binding and augmentation of C1 inhibitor activity.
9234243 1997 Degradation of C1-inhibitor by plasmin: implications for the control of inflammatory processes.
8755917 1996 Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
8618290 1996 Molecular weights and isoelectric points of sperm antigens relevant to autoimmune infertility in men.
8529136 1995 A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
8495195 1993 Chymotrypsin inhibitory activity of normal C1-inhibitor and a P1 Arg to His mutant: evidence for the presence of overlapping reactive centers.
8172583 1993 Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
7883978 1995 Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
7814636 1995 Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
7749926 1995 What do dysfunctional serpins tell us about molecular mobility and disease?
7586269 1995 The circulatory regulation of TPA and UPA secretion, clearance, and inhibition during exercise and during the infusion of isoproterenol and phenylephrine.
6980881 1982 Proteolytic cleavage and inactivation of alpha 2-plasmin inhibitor and C1 inactivator by human polymorphonuclear leukocyte elastase.
6604523 1983 Structural and circular-dichroism studies on the interaction between human C1-esterase inhibitor and C1s.
6416294 1983 Human C1 inhibitor: improved isolation and preliminary structural characterization.
6282262 1982 Fluid-phase interaction of C1 inhibitor (C1 Inh) and the subcomponents C1r and C1s of the first component of complement, C1.
3965505 1985 Platelet C1- inhibitor. A secreted alpha-granule protein.
3756141 1986 Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.
3587308 1987 Altered C1 inhibitor genes in type I hereditary angioedema.
3488058 1986 Isolation and analysis of a cDNA coding for human C1 inhibitor.
3458172 1986 Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.
3393514 1988 Molecular cloning of the cDNA coding for human C1 inhibitor.
3295045 1987 Inactivation of the proteolytic activity of mouse nerve growth factor by human C1(activated)-inhibitor.
3267220 1988 Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins.
3178731 1988 Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.
3089875 1986 Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily.
2723063 1989 Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.
2563376 1989 CpG mutations in the reactive site of human C1 inhibitor.
2478116 1989 Regulation of C1-inhibitor synthesis by interferons and other agents.
2365061 1990 Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.
2323781 1990 Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.
2296585 1990 Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
2154751 1990 Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
2118657 1990 Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.
2026152 1991 Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements.
1885769 1991 Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.
1684567 1991 An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
1531292 1992 Effect of interferon-gamma on complement gene expression in different cell types.
1451784 1992 A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
1363816 1992 C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.
1339401 1992 A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.