About: Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

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About: Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions ( approximately 60%). We characterized the gross deletion breakpoints in IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not show involvement of recombination signal sequences or immunoglobulin switch regions. Instead, five IGHM, eight BTK, and five unique Artemis breakpoints were located in or near sequences derived from transposable elements (TE). The breakpoints of four out of five disrupted Artemis alleles were located in highly homologous regions, similar to Ig subclass deficiencies and Vh deletion polymorphisms. Nevertheless, these observations suggest a role for TEs in mediating gross deletions. Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions ( approximately 60%). We characterized the gross deletion breakpoints in IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not show involvement of recombination signal sequences or immunoglobulin switch regions. Instead, five IGHM, eight BTK, and five unique Artemis breakpoints were located in or near sequences derived from transposable elements (TE). The breakpoints of four out of five disrupted Artemis alleles were located in highly homologous regions, similar to Ig subclass deficiencies and Vh deletion polymorphisms. Nevertheless, these observations suggest a role for TEs in mediating gross deletions. (en)
Title	Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. (en)
skos:prefLabel	Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. (en)
skos:notation	RIV/00216224:14110/08:00033696!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita	S
http://linked.open...avai/riv/aktivity	S
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Litzman, Jiří
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	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	369650
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/08:00033696
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	BTK; Artemis IGHM; gross deletion; immunodefeicncy (en)
http://linked.open.../riv/klicoveSlovo	Artemis IGHM BTK gross deletion immunodefeicncy
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[F75AF7A201BA]
http://linked.open...i/riv/nazevZdroje	Genetická a funkční charakterizace rozsáhlých delecí gentů IGHM, BTK a Artemis u pacientů s vrozenou agamaglobulinenmií.
http://linked.open...in/vavai/riv/obor	EC
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	82
http://linked.open...iv/tvurceVysledku	Litzman, Jiří Hartwig, Nico G. Kondratenko, Irina van der Burg, Mirjam Bernatowska, Ewa Conley, Mary Ellen Geertsema, Corinne Nieuwenhuis, Nicole Sanders, Elisabeth A.M. Schiff, Claudie Tezcan, Ilhan de Ridder, Dick van Dongen, Jacques J.M. van Zelm, Menno. C
http://linked.open...ain/vavai/riv/wos	000253223900005
issn	0002-9297
number of pages	13 (xsd:int)
http://localhost/t...ganizacniJednotka	14110

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