Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesCNV and nervous system diseases--what's new?Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeMechanisms underlying structural variant formation in genomic disordersMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same geneConstruction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeEvolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolutionA microhomology-mediated break-induced replication model for the origin of human copy number variation.Effect of telomere proximity on telomere position effect, chromosome healing, and sensitivity to DNA double-strand breaks in a human tumor cell line.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysisGenome architecture catalyzes nonrecurrent chromosomal rearrangementsReciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeatsHeterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.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 1Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Structural variation of the human genome: mechanisms, assays, and role in male infertilityHydroxyurea induces de novo copy number variants in human cells.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.Complex human chromosomal and genomic rearrangements.Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher diseaseAlu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesInsertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphateMechanisms for recurrent and complex human genomic rearrangements.High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseA microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.Mechanisms for Complex Chromosomal Insertions.The new cytogenetics: blurring the boundaries with molecular biology.
P2860
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P2860
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 20 September 2002
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Genomic rearrangements resulti ...... henotypes in males and females
@en
Genomic rearrangements resulti ...... enotypes in males and females.
@nl
type
label
Genomic rearrangements resulti ...... henotypes in males and females
@en
Genomic rearrangements resulti ...... enotypes in males and females.
@nl
prefLabel
Genomic rearrangements resulti ...... henotypes in males and females
@en
Genomic rearrangements resulti ...... enotypes in males and females.
@nl
P2093
P2860
P356
P1476
Genomic rearrangements resulti ...... henotypes in males and females
@en
P2093
Akira Yoneyama
Hitoshi Osaka
James R Lupski
Joe T R Clarke
Lisa G Shaffer
Lisa Rosenbarker
Thomas D Bird
Virginia C Thurston
P2860
P304
P356
10.1086/342728
P407
P577
2002-09-20T00:00:00Z