Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
about
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainUsing temporal genetic switches to synchronize the unfolded protein response in cell populations in vivo.Insertion of mutant proteolipid protein results in missorting of myelin proteins.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Control of human PLP1 expression through transcriptional regulatory elements and alternatively spliced exons in intron 1Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindredA duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCRGenetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupInsertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphateTransplantation of an oligodendrocyte cell line leading to extensive myelination.Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesNeuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brainFamilial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.The proteolipid protein gene: double, double, ... and trouble.PRLTS gene alterations in human prostate cancer.
P2860
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P2860
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@ast
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@en
type
label
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@ast
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@en
prefLabel
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@ast
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@en
P2093
P2860
P1476
Complete deletion of the prote ...... Pelizaeus-Merzbacher disease.
@en
P2093
C A Williams
L D Hudson
W H Raskind
P2860
P304
P407
P577
1991-12-01T00:00:00Z