The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.
作者信息
van der Maarel Silvère M, Frants Rune R
机构信息
Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands.
出版信息
Am J Hum Genet. 2005 Mar;76(3):375-86. doi: 10.1086/428361. Epub 2005 Jan 24.
Abstract
摘要
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本文引用的文献
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Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).
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Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.
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The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.
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Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
Am J Hum Genet. 2004 Dec;75(6):1124-30. doi: 10.1086/426035. Epub 2004 Oct 4.
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Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases.
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Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
Hum Mol Genet. 2004 Sep 1;13(17):1857-71. doi: 10.1093/hmg/ddh205. Epub 2004 Jul 6.
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Somatic mosaicism in FSHD often goes undetected.
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Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
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10
Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.
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