RAUDENSKÁ, Martina, Alexandra BITTNEROVÁ, Tomáš NOVOTNÝ, Alena FLORIÁNOVÁ, Karel CHROUST, Renata GAILLYOVÁ, Bořivoj SEMRÁD, Jitka KADLECOVÁ, Martina ŠIŠÁKOVÁ, Ondřej TOMAN a Jindřich ŠPINAR. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome. Physiological Research. Praha: Akademie věd České republiky, 2008, roč. 57/2008, č. 6, s. 857-862. ISSN 1802-9973. |
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@article{835826, author = {Raudenská, Martina and Bittnerová, Alexandra and Novotný, Tomáš and Floriánová, Alena and Chroust, Karel and Gaillyová, Renata and Semrád, Bořivoj and Kadlecová, Jitka and Šišáková, Martina and Toman, Ondřej and Špinar, Jindřich}, article_location = {Praha}, article_number = {6}, keywords = {SCN1B; KCND3; ANK2; Long QT Syndrome; Mutational Screening}, language = {eng}, issn = {1802-9973}, journal = {Physiological Research}, title = {Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome.}, volume = {57/2008}, year = {2008} }
TY - JOUR ID - 835826 AU - Raudenská, Martina - Bittnerová, Alexandra - Novotný, Tomáš - Floriánová, Alena - Chroust, Karel - Gaillyová, Renata - Semrád, Bořivoj - Kadlecová, Jitka - Šišáková, Martina - Toman, Ondřej - Špinar, Jindřich PY - 2008 TI - Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome. JF - Physiological Research VL - 57/2008 IS - 6 SP - 857-862 EP - 857-862 PB - Akademie věd České republiky SN - 18029973 KW - SCN1B KW - KCND3 KW - ANK2 KW - Long QT Syndrome KW - Mutational Screening N2 - In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS. About 50-60% of LQTS patients have an identifiable LQTS causing mutation in one of mentioned genes. In a group of 12 LQTS patients with no identified mutations in these genes we have tested a hypothesis that other candidate genes could be involved in LQTS pathophysiology. SCN1B and KCND3 genes encode ion channel proteins, ANK2 gene encodes cytoskeletal protein interacting with ion channels. Five polymorphisms were found in screened candidate genes, 2 polymorphisms in KCND3 and 3 in SCN1B. None of found polymorphisms has coding effect nor is located close to splice sites or has any similarity to known splicing enhancer motifs. Polymorphism G246T in SCN1B is a novel one. No mutation directly causing LQTS was found. Molecular mechanism of LQTS genesis in these patients remains unclear. ER -
RAUDENSKÁ, Martina, Alexandra BITTNEROVÁ, Tomáš NOVOTNÝ, Alena FLORIÁNOVÁ, Karel CHROUST, Renata GAILLYOVÁ, Bořivoj SEMRÁD, Jitka KADLECOVÁ, Martina ŠIŠÁKOVÁ, Ondřej TOMAN a Jindřich ŠPINAR. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome. \textit{Physiological Research}. Praha: Akademie věd České republiky, 2008, roč.~57/2008, č.~6, s.~857-862. ISSN~1802-9973.
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