Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
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Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 geneDeletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BDejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyCharcot-Marie-Tooth disease and intracellular trafficDe novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growthMouse homologues of human hereditary disease.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentA molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.Investigation of peripheral neuropathyIntroduction to the Third International Symposium on Charcot-Marie-Tooth disorders.Molecular mechanisms for CMT1A duplication and HNPP deletion.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemThe 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth diseaseChromosomal duplications in bacteria, fruit flies, and humansCopy number variations on chromosome 12q14 in patients with normal tension glaucomaMolecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.A comparison of methods for gene dosage analysis in HMSN type 1.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Schwann cell myelination requires timely and precise targeting of P(0) proteinAutosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Animal models of Charcot-Marie-Tooth disease type 1A.SR13/PMP-22 expression in rat nervous system, in PC12 cells, and C6 glial cell lines.Differentially expressed genes after peripheral nerve injury.DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.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.
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P2860
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@ast
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@en
type
label
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@ast
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@en
prefLabel
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@ast
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@en
P2093
P2860
P356
P1433
P1476
Peripheral myelin protein-22 g ...... d with Charcot-Marie-Tooth 1A.
@en
P2093
Albertsen H
Hanemann CO
Matsunami N
Robertson M
P2860
P2888
P304
P356
10.1038/NG0692-176
P407
P577
1992-06-01T00:00:00Z
P6179
1031705890