About: Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

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About: Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations Goto Sponge NotDistinct Permalink

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scientific article published on 01 May 1999

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 1999 (uk) im Mai 1999 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 1999 (ast) scientific article published on 01 May 1999 (en)
publication date	wds:Q77729370-18506CBA-2F27-4050-B2AF-7024786BFC3E
publication date	1999-05-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q77729370-18B6030A-144B-4310-9394-FC642205D8B6 wds:Q77729370-2AFD378F-1D8E-442A-A68C-408AA08774DD wds:Q77729370-42112711-2507-432B-9400-483EF3C8D09D wds:Q77729370-50646E3C-7547-4D9A-A026-2F0C8B63B3A1 wds:Q77729370-79D1DB1E-6107-4F9A-96A6-813242F9E59D wds:Q77729370-91D47431-7955-417E-82B7-4EB24540CAD3 wds:Q77729370-A62E7A15-90E9-478D-B081-DB006E82B9CA wds:Q77729370-AF64F7FE-5508-4822-9F16-19B1766BBB2C wds:Q77729370-B5F86242-33E7-4878-8675-FA3926C4F652 wds:Q77729370-C98F4416-155B-46F2-AE42-D192BEE0EE41 wds:Q77729370-F2F71B87-D573-438E-985B-FB512374B174 wds:Q77729370-FDABD7A9-C027-43A6-A56F-0C45EC236D14
author name string	Imaizumi K Inoue K Ono J Osaka H Shaffer LG Lupski JR Nezu A Murayama K Takanashi J Kikawa Y Mito T Arii J
rdfs:label	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (en) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (nl)
skos:prefLabel	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (en) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (nl)
name	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (en) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (nl)
title	wds:Q77729370-60FC477B-8238-4DF9-AFC1-C72ED6712CAE
title	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations (en)
page(s)	wds:Q77729370-83C90F7A-AAC3-48E1-AD4E-58AF796CE65F
page(s)	624-632
instance of	wds:Q77729370-F4241B9F-308C-4BFB-AEBB-DA15D409A7EE
instance of	scholarly article
main subject	wds:Q77729370-01067E0B-3ED6-4E5D-B047-F07CF3D30AC1 wds:Q77729370-0D9F7D9B-17DE-473C-A5D9-A7D4690D8F60
main subject	gene duplication Pelizaeus-Merzbacher disease
PubMed ID	wds:Q77729370-88EBB439-2FF9-41AC-8BD3-C9E49924EB69
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10319885
PubMed ID	10319885
published in	wds:Q77729370-7BB45229-B471-439B-B8AB-9A4D3DAE5B76
published in	Annals of Neurology
issue	wds:Q77729370-237E70C7-6C3B-49D9-9C99-E0842167A3DF
volume	wds:Q77729370-2D287303-A9EF-49C2-94A1-07A4BE975875
issue	5
volume	45
DOI	wds:Q77729370-08B5C4F3-F93A-4EA8-B9E7-9CA8140C73BB
DOI	http://dx.doi.org/10.1002/1531-8249(199905)45:5%3C624::AID-ANA11%3E3.0.CO;2-1
DOI	10.1002/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77729370
is cites work of	Selection in the evolution of gene duplications Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination The molecular and cellular defects underlying Pelizaeus-Merzbacher disease A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 Update on genetic disorders affecting white matter Phylogeny of proteolipid proteins: divergence, constraints, and the evolution of novel functions in myelination and neuroprotection Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome Prenatal diagnosis of Pelizaeus-Merzbacher disease The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Proteolipid protein gene mutation induces altered ventilatory response to hypoxia in the myelin-deficient rat. MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants Breaking away from home Modeling the natural history of Pelizaeus-Merzbacher disease Function of tetraspan proteins in the myelin sheath Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 Structural variation mutagenesis of the human genome: Impact on disease and evolution Control of human PLP1 expression through transcriptional regulatory elements and alternatively spliced exons in intron 1 Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR 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 brain Disorders caused by chromosome abnormalities Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA. Harnessing the stem cell potential: a case for neural stem cell therapy High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

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