Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
about
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.How is the Human Genome Project doing, and what have we learned so far?New vistas on the pathomechanism of Charcot-Marie-Tooth and related peripheral neuropathies.Molecular anatomy and genetics of myelin proteins in the peripheral nervous system2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.Chromosomal duplications in bacteria, fruit flies, and humansGenetic aspects of Charcot-Marie-Tooth disease.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathyA 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain.Disorders of the genome architecture: a review.Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease.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.Application of differentiated human tonsil-derived stem cells to trembler-J mice.The tmp gene, encoding a membrane protein, is a c-Myc target with a tumorigenic activityConnexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel.The proteolipid protein gene.Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Dominance and homozygosity.Molecular basis of genetic heterogeneity: role of the clinical neurologist.Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells.Studies on the effects of altered PMP22 expression during myelination in vitro.A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.Distal axonopathy in peripheral nerves of PMP22-mutant mice.Mouse models of myelin diseases.A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A
P2860
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P2860
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@ast
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@en
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@nl
type
label
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@ast
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@en
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@nl
prefLabel
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@ast
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@en
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@nl
P1433
P1476
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
@en
P2093
P304
P356
10.1016/0168-9525(94)90214-3
P407
P577
1994-04-01T00:00:00Z