Property Summary

NCBI Gene PubMed Count 175
PubMed Score 915.85
PubTator Score 606.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Nerve compression syndrome 2 0.0 5.0

Expression

  Differential Expression (27)

Disease log2 FC p
malignant mesothelioma -7.100 7.3e-10
group 4 medulloblastoma -3.100 1.2e-09
cystic fibrosis -3.427 1.6e-08
medulloblastoma, large-cell -1.700 3.7e-02
autosomal dominant Emery-Dreifuss muscul... 1.144 2.9e-02
acute quadriplegic myopathy 1.060 1.3e-02
tuberculosis -3.500 6.1e-06
primary pancreatic ductal adenocarcinoma 2.184 2.9e-04
non-small cell lung cancer -1.381 3.3e-15
intraductal papillary-mucinous adenoma (... -2.300 3.2e-03
intraductal papillary-mucinous neoplasm ... -2.000 3.9e-02
colon cancer -2.600 5.6e-03
lung cancer -3.200 2.8e-05
active Crohn's disease 1.806 1.8e-02
active ulcerative colitis 3.385 4.5e-02
breast carcinoma -1.200 2.0e-05
non primary Sjogren syndrome sicca 1.300 1.6e-02
lung adenocarcinoma -1.800 3.4e-08
lung carcinoma -1.900 1.3e-19
gastric carcinoma 1.100 1.2e-02
ductal carcinoma in situ -1.400 5.9e-03
invasive ductal carcinoma -1.900 8.3e-04
ovarian cancer -4.300 2.2e-11
pituitary cancer -2.500 1.7e-07
Down syndrome 1.300 6.6e-04
pancreatic cancer 2.200 3.8e-05
dermatomyositis 1.500 3.2e-03

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1967 confirmatory 1 / 751 / 528 qHTS Assay for Modulators of Human Peripheral Myelin Protein 22 (PMP22) Expression/Activity

Gene RIF (100)

PMID Text
26977628 DNA diagnosis was performed in 5 families with hereditary neuropathy with liability to pressure palsies - the PMP22 deletion was found in 9 patients.
26921370 These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing Neuromuscular Junction.
26859249 Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest PMP22 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.
26629937 PMP22 gene knockdown inhibited progression of Chronic Myeloid Leukemia.
26544804 PMP22 Gene Duplication is associated with Charcot-Marie-Tooth disease type 1A.
26486801 our data suggest that an alteration of mRNA processing could be a pathogenic mechanism in CMT1A.
26154129 Osteosarcoma metastasis-related gene PMP22 participates in the proliferation, invasion, migration and colony formation of osteosarcoma cells possibly via the MAPK signal transduction pathway
26110377 The common 17p deletion accounts for approximately 50% and PMP22 micromutations for approximately 2% of cases in a large consecutive cohort of Greek patients with suspected HNPP.
26102530 This finding provides compelling evidence that the effects of these mutations on the energetics of PMP22 folding lie at the heart of the molecular basis of Charcot-Marie-Tooth disease.
26076881 PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene cause Charcot-Marie-Tooth Disease.
25522693 The SNP array has wide coverage, high sensitivity, and high resolution and can be used as a screening tool to detect PMP22 dup/del as shown in this Chinese Han population.
25385046 Charcot-Marie-Tooth disease-related PMP22 is trapped in the endoplasmic reticulum by calnexin-dependent retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated endoplasmic reticulum-associated degradation system.
25243937 Data suggest that several peripheral myelin protein 22 (PMP22) mutations known to result in neuropathy act by disrupting transmembrane helix packing interactions.
25030070 Duplication of PMP22 was detected in 79 of 157 Mexican Charcot-Marie-Tooth Type 1A disease patients. In Mexican patients CMT1A frequency was similar to other populations such as United States, Australia, Finland, Sweden and Spain.
24830919 The results of this study revealed distinct patterns of SNP allele frequency distribution, which reliably differentiated CMT1A patients from controls
24819634 2 of 38 CMT2 patients showed rearrangements in the PMP22 gene, which is commonly associated with CMT1 or HNPP phenotypes thus usually not tested in CMT2 patients.
24812204 ascorbic acid does not impact on PMP22 transcriptional regulation and PMP22 is not a suitable biomarker for CMT1A
24646194 Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation
24321297 G3BP1 regulation of cell proliferation in breast cancer cells, may occur via a regulatory effect on PMP22 expression.
24078732 This study demonistrated that pmp22 gene duplication is the most frequent in patient with Charcot-Marie-Tooth disease in spain.
23743332 This study demonistrated that PMP22 duplication was the most common genetic cause Charcot-Marie-Tooth disease.
23689413 Two Brazilian siblings with proptosis were found to have a point mutation in the PMP22 gene.
23639031 Wild type PMP22 possesses minimal conformational stability in micelles, which parallels its poor folding efficiency in the endoplasmic reticulum.
23635862 molecular genetic analysis of patients with Bell's palsy failed to demonstrate the presence of the PMP22 gene deletion on chromosome 17q11.2-12
23468528 a novel MDA-7/IL-24-GAS3-beta1integrin-fibronectin signaling pathway that suppresses breast cancer growth, is reported.
23279344 We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating Charcot-Marie-Tooth type 1 E
23243264 altered PMP22 gene expression induces significant central nervous system alterations in patients with hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth 1A
23224996 This review shows that alterations of PM22 levels by mutations of the PM22 gene are responsible for > 50% of all inherited peripheral neuropathies.
22765307 In the title.
22243284 our results suggest a low relative CMT1A duplication frequency in the Greek population
22180461 A subset of EGR2 and SOX10 consensus sequences are essential for enhancer activity of the PMP22 gene.
22131320 PMP22 mutation has a role in Charcot-Marie-Tooth disease; the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population
22006697 Four novel point mutations in PMP22 with two different phenotypes: mutation p.Ser79Thr is found in the Dejerine-Sottas neuropathy phenotype.
22000434 gene causing Charcot-Marie-Tooth disease (CMT) in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A
21827951 Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease, the PMP22 Leu16Pro mutation profoundly disrupts the first transmembrane segment destabilizing the protein
21692910 More than three-fourths of the patients with Gly94fsX222 mutation demonstrated a CMT1 phenotype combined with transient deficits
21670407 PMP22 is important for the normal function of neurons that express it during early development, such as cranial motor neurons and spinal sensory neurons. PMP22 deficiency differentially affects myelination between motor and sensory nerves.
21590514 [review] Pes cavus is an early and age-dependent manifestation of CMT1A duplication.
21518455 A physiologic role for PMP22 on the expression of alpha6 integrin.
21429232 The lower prevalence of HNPP in our study of Finnish conscripts compared to the general population is probably due to pre-service screening.
21337347 the novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy
21252112 micromutations of PMP22 cause a clinical and pathological continuum of demyelinating neuropathies that may include atypical phenotypes.
21194947 Variable phenotypes of Charcot-Marie-Tooth disease are associated with PMP22 missense mutations.
21159173 PMP22 gene expression is a novel independent prognostic factor for disease-free survival and overall survival for breast cancer patients. Including it into a model with established prognostic factors will increase the accuracy of prognosis.
20842290 Data conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect.
20842290 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20571287 The most frequent Charcot-Marie-Tooth disease mutation worldwide, the PMP22 duplication, is also the most frequent CMT mutation in the Cypriot population. Five out of the 8 other mutations are novel, not reported in other populations.
20538960 Observational study of gene-disease association. (HuGE Navigator)
20453308 Serine112Arginine mutation in the PMP22 gene may have a causative role in early-onset Charcot-Marie-Tooth disease with hearing impairment.
20093502 The role of monocyte chemoattractant protein-1 (MCP-1/CCL2) as a regulator of nerve macrophages and neural damage including axonopathy and demyelination, was investigated.
19930872 PMP22 gene duplications and deletions are associated with Charcot-Marie-Tooth disease type 1A and hereditary neuro pathy with liability to pressure palsies.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19909487 the type of PMP22 point mutations, the nature of the amino acid change, and the position of the altered amino acid play a role in determining the severity of the phenotype
19888301 Copy number variation upstream of PMP22 is associated with Charcot-Marie-Tooth disease.
19830275 study characterized a patient manifesting with an atypical form of hereditary neuropathy with liability to pressure palsies caused by a new Thr99fsX110 mutation in the PMP22 gene
19705173 PMP22 has a role in determining phenotype of Charcot-Marie-Tooth disease [case report]
19493167 Loss of motoneurons (MNs) in spinal cords from transgenic mice over-expressing Pmp22 (Pmp22(tg)) is demonstrated, while mice lacking Pmp22 [Pmp22(ko) knockouts] exhibit normal MN numbers at the age (60 days) of Charcot-Marie-Tooth disease symptoms.
19447823 The extra copy of PMP22 in Charcot-Marie-Tooth 1A results in disruption of the tightly regulated expression of PMP22, thus, variability of PMP22 levels, rather than absolute level of PMP22, may play an important role in the pathogenesis of CMT1A.
19290556 Data show that Med25 is coordinately expressed with Pmp22 gene dosage and expression in transgenic mice and rats, and suggest a potential role of this protein in the molecular etiology of Charcot-Marie-Tooth disease.
19259128 Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds.
19259128 Observational study of gene-disease association. (HuGE Navigator)
18795802 The results lead to the hypothesis that ER quality control recognizes the G150D and L16P mutant forms of PMP22 as defective through mechanisms closely related to their conformational instability and/or slow folding.
18698610 Deletions in both PMP22 alleles caused Charcot-Marie-Tooth disease with a Dejerine-Sottas disease phenotype.
18642376 novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings.
18592125 study reports a novel point mutation in a family affected with Roussy-Levy syndrome
18438698 Our findings suggest that in a subgroup of CMT1A patients there is an increase in clinical severity over generations. The mechanism responsible for this observation remains unknown. Our findings should be validated on a larger cohort of CMT1A families.
18353535 Observational study of genetic testing. (HuGE Navigator)
17917930 Observational study of gene-disease association. (HuGE Navigator)
17917930 The rate of duplication was 92.3' (36/39) in the patients whereas it was zero in the control samples.
17824619 Results show PMP22 is highly helical, shows evidence of stable tertiary structure, and exhibits a strong tendency to dimerize.
17707409 This study investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT).
17620487 The phenotypic expression is identical in patients with Leu7fs mutation and patients with HNPP caused by chromosome 17p11.2 deletion. Reduction of PMP22 is sufficient to cause the full HNPP phenotype.
16912585 Observational study of genotype prevalence. (HuGE Navigator)
16683188 determined the N-terminal part of Siva as the binding region for CD27; the peroxisomal membrane protein PMP22 is a new interaction partner of Siva and may be involved in the host response against CVB3.
16481890 Observational study of genotype prevalence. (HuGE Navigator)
16481890 CMT represents a heterogeneous group of disorders at the molecular level. Testing for the CMT1A duplication (i.e., duplication of PMP22) alone yields an accurate molecular diagnosis in approximately half of all patients.
16463004 Observational study of genetic testing. (HuGE Navigator)
16437560 T118M PMP22 mutation causes partial loss of function and hereditary neuropathy with liability to pressure palsies.
16436605 PMP22 forms a complex with alpha6beta4 integrin in cultured colonic adenocarcinoma cells.
16326107 As a result of missorting and inefficient proteasomal degradation, the aggregation of PMP22 and recruitment of autophagosomes and lysosomes are key factors in the subcellular pathogenesis of CMT1A neuropathies.
16215943 The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of hereditary neuropathy with liability to pressure palsies.
16199442 point mutation in the PMP22 gene is a rare cause of hereditary neuropathy.
15955700 A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy.
15891642 The differences in sensorineural hearing impairment may be explained by the differences in PMP22 expression.
15755691 At postnatal day 4 Pmp22 transgenic mice show strongly reduced expression of genes important for cholesterol synthesis.
15564036 We report the clinical and electrophysiological findings observed in a kindred with three members affected by HNPP due to a deletion containing exons 4 and 5 of the PMP22 gene.
15555916 PMP22 and P0 are involved in both trans-homophilic and trans-heterophilic interactions. Disease-related point mutations of P0 resulted in a decreased adhesion capability correlating with the severity of the respective disease phenotype.
15205993 a PMP22 mutation (Ser22Phe) may play a role in hereditary neuropathy
15099592 we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) leading to a T23R missense mutation in PMP22.
15099590 we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype.
15083696 distinct mutations in PMP22 gene is found in brachial palsy.
15050444 Observational study of gene-disease association. (HuGE Navigator)
14581692 Sequence deletion in the PMP22 gene was noted in a case of hereditary neuropathy with liability to pressure palsy complicated by hypoglossal neuropathy
12823620 Conformation of the transmembrane domains in peripheral myelin protein 22 is studied using solution-phase synthesis.
12211648 SSCP analysis of this gene in Croatian patients
12207933 deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
11835375 Observational study of genotype prevalence. (HuGE Navigator)
11545686 Observational study of genetic testing. (HuGE Navigator)
11456309 both functions of PMP22, in regulating Schwann cell differentiation and contributing to peripheral myelin compaction, are affected by its overexpression.

AA Sequence

MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMI      1 - 70
LSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAW     71 - 140
VAFPLALLSGVIYVILRKRE                                                      141 - 160
//

Text Mined References (175)

PMID Year Title
26977628 2016 [Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
26921370 2016 Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.
26859249 2016 Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
26629937 2014 Knockdown of Peripheral Myelin Protein 22 Inhibits the Progression of Chronic Myeloid Leukemia.
26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
26486801 2016 Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.
26154129 2015 The Functional Role of PMP22 Gene in the Proliferation and Invasion of Osteosarcoma.
26110377 2015 Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
26102530 2015 Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.
25522693 2015 PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
25416956 2014 A proteome-scale map of the human interactome network.
25385046 2014 Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.
25243937 2014 The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
25030070 2014 [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population].
24830919 2015 Detection of copy number variation by SNP-allelotyping.
24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24812204 2014 PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.
24646194 2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
24321297 2013 Regulation of PMP22 mRNA by G3BP1 affects cell proliferation in breast cancer cells.
24078732 2013 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
23743332 2013 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
23740413 2013 Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy.
23689413 2013 Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).
23639031 2013 Reversible folding of human peripheral myelin protein 22, a tetraspan membrane protein.
23635862 2013 Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background?
23468528 2013 mda-7/IL-24 expression inhibits breast cancer through upregulation of growth arrest-specific gene 3 (gas3) and disruption of ?1 integrin function.
23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
23279344 2012 Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
23243264 2013 Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
23224996 2013 The PMP22 gene and its related diseases.
22765307 2013 Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
22243284 2011 Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.
22180461 2012 Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
22131320 2011 Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
22006697 2011 Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
22000434 2011 [PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].
21827951 2011 Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.
21692910 2011 The phenotype of the Gly94fsX222 PMP22 insertion.
21670407 2011 Neuropathy in a human without the PMP22 gene.
21666788 2011 Effects of chronic ascariasis and trichuriasis on cytokine production and gene expression in human blood: a cross-sectional study.
21590514 2011 New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.
21518455 2011 Peripheral myelin protein-22 (PMP22) modulates alpha 6 integrin expression in the human endometrium.
21429232 2011 Recovery of brachial plexus lesions resulting from heavy backpack use: a follow-up case series.
21337347 2011 Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.
21252112 2011 Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
21194947 2011 Variable phenotypes are associated with PMP22 missense mutations.
21159173 2010 Gene expression of PMP22 is an independent prognostic factor for disease-free and overall survival in breast cancer patients.
20842290 2010 The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.
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.
20571287 2010 Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
20538960 2010 A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
20453308 2010 Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
20093502 2010 MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy.
19930872 Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19909487 2009 Two families with novel PMP22 point mutations: genotype-phenotype correlation.
19888301 2010 Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
19830275 2009 A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
19705173 2010 Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.
19493167 2009 Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage.
19447823 2009 PMP22 expression in dermal nerve myelin from patients with CMT1A.
19290556 2009 Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
19259128 2009 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
18795802 2008 The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.
18698610 2008 Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
18642376 2008 A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
18592125 2008 A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
18438698 2008 Increased severity over generations of Charcot-Marie-Tooth disease type 1A.
18353535 2008 Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese.
17917930 2007 Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers.
17824619 2007 Purification and initiation of structural characterization of human peripheral myelin protein 22, an integral membrane protein linked to peripheral neuropathies.
17707409 2007 A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
17620487 2007 Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
16912585 2006 Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
16683188 2006 The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22.
16481890 2006 Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
16463004 2006 A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
16437560 2006 T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
16436605 2006 Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.
16326107 2006 Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression.
16215943 2005 [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
16199442 2006 An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
15955700 2005 A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
15891642 2005 Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations.
15786462 2005 Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
15755691 2005 Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.
15564036 2004 Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
15555916 2004 Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
15099592 2004 A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
15099590 2004 A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
15083696 2004 Familial congenital brachial palsy: a report of two affected Egyptian families.
15050444 2004 Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
14709540 2004 PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.
14581692 2003 Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy.
12823620 2003 Conformation of the transmembrane domains in peripheral myelin protein 22. Part 1. Solution-phase synthesis and circular dichroism study of protected 17-residue partial peptides in the first putative transmembrane domain.
12796555 2003 HNPP due to a novel missense mutation of the PMP22 gene.
12578939 2003 Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12439896 2002 Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12211648 2002 Mutation analysis of the MPZ and PMP22 genes in Croatian patients.
12207933 2002 Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
12119418 2002 Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases.
12107182 2002 Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus.
12090401 2002 Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11545686 Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
11456309 2001 PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A.
11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
10982389 2000 Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.
10806367 2000 Molecular dissection of the Schwann cell specific promoter of the PMP22 gene.
10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10704444 2000 PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.
10697408 2000 The peripheral myelin protein 22 and epithelial membrane protein family.
10663978 2000 Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
10632107 2000 Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
10489052 1999 Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
10330345 1999 A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
10212299 1999 Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin.
10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
9888385 1999 Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
9748013 1998 A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
9585367 1998 Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
9544841 1998 Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
9452099 1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452053 1998 Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
9187667 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
9055797 1997 Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
9040744 1997 A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
9040737 1997 A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
8988161 1997 PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
8786387 1996 Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A.
8777804 1995 [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
8655153 1996 A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.
8615087 1995 Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
8541860 1995 Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group.
8510709 1993 Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
8500795 1993 Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
8482547 1993 Sequence of human GAS3/PMP22 full-length cDNA.
8422677 1993 DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
8105684 1993 Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
8012388 1994 A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
7929285 1994 Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
7825607 1995 A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
7762451 1994 Molecular genetics of Charcot-Marie-Tooth neuropathy.
7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
7675244 1995 Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
7518101 1994 Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
1835375 Pathogenicity of CL-1 chicken anemia agent.
1822787 1991 Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
1721895 1991 The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
1677316 1991 DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
1556154 1992 Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13).
1552542 1992 Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
1552536 1992 Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
1497668 1992 Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin.
1349106 1992 De-novo mutation in hereditary motor and sensory neuropathy type I.
1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
1303231 1992 Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
1303229 1992 The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
1303228 1992 The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
1303210 1992 Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene.
1297450 1992 Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization.
954484 1976 Diagnostic evaluation of the juvenile offender: toward the clarification of often overlooked psychopathology.