Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
about
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomThe gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HRetroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growthA unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 geneInvestigation of peripheral neuropathyHow is the Human Genome Project doing, and what have we learned so far?The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemElectrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.The PMP22 gene and its related diseases.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth diseaseCNS myelination and PLP gene dosage.In silico analysis of autoimmune diseases and genetic relationships to vaccination against infectious diseases.Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Chromosomal duplications in bacteria, fruit flies, and humansDejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Genomic medicine and neurological disease.Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyDifferentially expressed genes after peripheral nerve injury.Review of the GAS3 Family of Proteins and their Relevance to Cancer.Charcot-marie-tooth disease: seventeen causative genes.Demyelinating prenatal and infantile developmental neuropathies.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.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.Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22.Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies.The pathology of charcot-marie-tooth disease and related disorders.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
P2860
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P2860
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@ast
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en-gb
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@nl
type
label
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@ast
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en-gb
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@nl
prefLabel
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@ast
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en-gb
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@nl
P2093
P2860
P356
P1433
P1476
Dejerine-Sottas syndrome assoc ...... myelin protein 22 (PMP22) gene
@en
P2093
P2860
P2888
P304
P356
10.1038/NG1193-269
P407
P577
1993-11-01T00:00:00Z
P6179
1024104351