About: Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	V naší studii jsme charakterizovali mutace v ABCB11 u pacientů s progresivní jaterní chorobou. Výsledky mutační analýzy jsme korelovali s expresí proteinu BSEP a s rizikem vzniku malignity. Ve 109 rodinách bylo nalezeno celkem 82 různých mutací (z toho 52 nových). Třetina mutací se vyskytla ve více než jedné rodině. Mutace E297G a/nebo D482G byly nalezeny v 58% evropských rodin. 93% z 88 vyšetřených nemocných mělo abnormální či chybějící expresi proteinu BSEP. Hepatocelulární či cholangiocelulární karcinom vyvinulo 15% nemocných. Deficit BSEP je tak prokazatelně rizikovým faktorem pro vznik maligních nádorů jater. Sledování nemocných s progresivní familiární intrahepatální choletázopu 2. typu, zejména pak nosičů 2 nulových mutací, je nezbytnou součástí péče o tyto pacienty. (cs) BACKGROUND & AIMS: Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. METHODS: Patients with intrahepatic cholestasis suggestive of BSEP deficiency were investigated by single-strand conformation polymorphism analysis and sequencing of ABCB11. Genotypes sorted by likely phenotypic severity were correlated with data on BSEP immunohistochemistry and clinical outcome. RESULTS: Eighty-two different mutations (52 novel) were identified in 109 families (9 nonsense mutations, 10 small insertions and deletions, 15 splice-site changes, 3 whole-gene deletions, 45 missense changes). In 7 families, only a single heterozygous mutation was identified despite complete sequence analysis. Thirty-two percent of mutations occurred in >1 family, with E297G and/or D482G present in 58% of Europea BACKGROUND & AIMS: Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. METHODS: Patients with intrahepatic cholestasis suggestive of BSEP deficiency were investigated by single-strand conformation polymorphism analysis and sequencing of ABCB11. Genotypes sorted by likely phenotypic severity were correlated with data on BSEP immunohistochemistry and clinical outcome. RESULTS: Eighty-two different mutations (52 novel) were identified in 109 families (9 nonsense mutations, 10 small insertions and deletions, 15 splice-site changes, 3 whole-gene deletions, 45 missense changes). In 7 families, only a single heterozygous mutation was identified despite complete sequence analysis. Thirty-two percent of mutations occurred in >1 family, with E297G and/or D482G present in 58% of Europea (en)
Title	Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families (en) Závažný deficit pumpy žlučových kyselin: 82 různých mutací v ABCB11 ve 109 rodinách (cs)
skos:prefLabel	Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families (en) Závažný deficit pumpy žlučových kyselin: 82 různých mutací v ABCB11 ve 109 rodinách (cs)
skos:notation	RIV/00023001:_____/08:00001762!RIV09-MZ0-00023001
http://linked.open...avai/riv/aktivita	N V
http://linked.open...avai/riv/aktivity	N, V
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Jirsa, Milan Cebecauerová, Dita
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	Institut klinické a experimentální medicíny
http://linked.open...dnocenehoVysledku	394549
http://linked.open...ai/riv/idVysledku	RIV/00023001:_____/08:00001762
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ABC; adenosine triphosphate?binding cassette; BSEP; bile salt export pump; CpG; cytosine guanine; NBF; nucleotide-binding fold; PCR; polymerase chain reaction; TM; transmembrane (en)
http://linked.open.../riv/klicoveSlovo	polymerase chain reaction PCR TM CpG ABC BSEP NBF adenosine triphosphate?binding cassette bile salt export pump cytosine guanine nucleotide-binding fold transmembrane
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[1ACE4EFDE66A]
http://linked.open...i/riv/nazevZdroje	Gastroenterology
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	23 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	134
http://linked.open...iv/tvurceVysledku	Jirsa, Milan Kotalová, R. Cebecauerová, Dita Verkade, H. J. Strautnieks, S. S. Al-Hussaini, H. F. Antoniou, A. Arnell, H. Bassas, A. F. Byrne, J. A. Cielecka-Kuszyk, J. Dutton, L. Fischler, B. McClean, P. Meier, Y. Nemeth, A. Ozcay, F. Pawlikowska, L. Rayner, A. Shneider, BL. Sokal, E. Steieger, B. Whitington, P. F.
http://linked.open...ain/vavai/riv/wos	000254853800039
issn	0016-5085
number of pages	12 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families

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