About: Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Vyšetřili jsme 21 osob s vzácnými CNV spojenými s CMT1A nebo HNPP pomicí oligoCGH microarrays a prokázali jsme 17 unikátních CNV zahrnující delece duplikace, komplexní přestavby a malé delexe exonů. Vyšetřili jsme 21 osob s vzácnými CNV spojenými s CMT1A nebo HNPP pomicí oligoCGH microarrays a prokázali jsme 17 unikátních CNV zahrnující delece duplikace, komplexní přestavby a malé delexe exonů. (cs) We investigated 21 subjects with rare CNVs associated with CMT1A or HNPP by oligonucleotide-based comparative genomic hybridization microarrays and breakpoint sequence analyses, and we identified 17 unique CNVs, including two genomic deletions, ten genomic duplications, two complex rearrangements, and three small exonic deletions. Each of these CNVs includes either the entire PMP22 gene, or exon(s) only, or ultraconserved potential regulatory sequences upstream of PMP22, further supporting the contention that PMP22 is the critical gene mediating the neuropathy phenotypes associated with 17p12 rearrangements. Breakpoint sequence analysis reveals that, different from the predominant NAHR mechanism in recurrent rearrangement, various molecular mechanisms, including nonhomologous end joining, Alu-Alu-mediated recombination, and replication-based mechanisms (e.g., FoSTeS and/or MMBIR), can generate nonrecurrent 17p12 rearrangements associated with neuropathy. (en)
Title	Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability (cs) Mechanismy nerekurentních genomických přestaveb spojených s CMT1A nebo HNPP. Vzácné CNV způsobují chybějící heritabilitu. (en)
skos:prefLabel	Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability (cs) Mechanismy nerekurentních genomických přestaveb spojených s CMT1A nebo HNPP. Vzácné CNV způsobují chybějící heritabilitu. (en)
skos:notation	RIV/00064203:_____/10:6252!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NS10554)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Seeman, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	270177
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6252
http://linked.open...riv/jazykVysledku	cze - čeština
http://linked.open.../riv/klicovaSlova	tooth disease type-1a; segmental duplications; complex rearrangements; hereditary neuropathy; replication slippage; pressure palsies; alu elements; gene; dna; recombination (en)
http://linked.open.../riv/klicoveSlovo	gene recombination dna alu elements complex rearrangements segmental duplications tooth disease type-1a replication slippage hereditary neuropathy pressure palsies
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[CE8E005A842E]
http://linked.open...i/riv/nazevZdroje	American Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	19 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection and analysis of mutations in mitofusin 2 gene (MFN2) as the known most common cause of axonal forms of hereditary neuropathies Charcot Marie Tooth (CMT 2).
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	86
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Rautenstrauss, B. Posádka, Jan Zhang, F. Lupski, JR Timmerman, V. De Jonghe, P. Baas, F. Batish, S. D. De Vriendt, E. Gonzaga-Jauregui, C. Khajavi, M. Krause, KH Liu, PF Palau, F. Towne, CF Van Maldergem, L. Vandenberghe, A. Weterman, MAJ
http://linked.open...ain/vavai/riv/wos	000278948900007
issn	0002-9297
number of pages	12 (xsd:int)

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