Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

Zapytanie: HERBERT
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Tytuł oryginału: The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies.
Autorzy: Moric Ewa, Herbert Ernest, Mazurek Urszula, Samelska Justyna, Cholewa Krzysztof, Trusz-Gluza Maria, Wilczok Tadeusz
Źródło: J. Appl. Genet. 2002: 43 (2) s.245-254, il., bibliogr. s. 253-254
Sygnatura GBL: 305,055

Hasła klasyfikacyjne GBL:
  • genetyka
  • kardiologia

    Typ dokumentu:
  • praca kliniczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p. 15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium channel gene. Mutations in the human KVLQT1 gene, encoding the ŕ-subunit of the KVLQT1 channel, cause the long QT syndrome. In this work, we analysed the sequence of six KVLQT1 exons in patients with various heart pathologies. We describe 6 different mSSCP patterns with no disease-related SSCP conformes in any sample. Different sequencing of exons 2 to 7 confirmed the absence of mutations. This suggests that the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome.

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    Tytuł oryginału: The polymorphism of the HERG gene responsible for the autosomal dominant long-QT syndrome.
    Autorzy: Herbert Ernest, Trusz-Gluza Maria, Moric Ewa, Śmiłowska-Dzielicka Ewa, Mazurek Urszula, Wilczok Tadeusz
    Źródło: Folia Cardiol. 2002: 9 (3) s.193-202, il., tab., bibliogr. 64 poz.
    Sygnatura GBL: 313,196

    Hasła klasyfikacyjne GBL:
  • genetyka
  • kardiologia

    Typ dokumentu:
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

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    Tytuł oryginału: KCNQ1 gene mutations and the respective genotyp-phenotype correlations in the long QT syndrome.
    Autorzy: Herbert Ernest, Trusz-Gluza Maria, Moric Ewa, Śmiłowska-Dzielicka Ewa, Mazurek Urszula, Wilczok Tadeusz
    Źródło: Med. Sci. Monitor 2002: 8 (10) s.RA240-RA248, il., tab., bibliogr. 62 poz.
    Sygnatura GBL: 313,278

    Hasła klasyfikacyjne GBL:
  • genetyka
  • kardiologia

    Typ dokumentu:
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: KCNQ1 (formerly called KVLQT1) is a Shaker-like voltage-gated potassium channel gene responsible for teh LQT1 sub-type of LQTS. In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and deafness). To date, more than 100 families with mutations in this gene have been reported, most with their own novel 'private' mutations. The majority of these mutations are missense. However, other types of mutations, such as deletions, frame-shifts and splice-donor errors have also been reported. There is one frequently reported mutated region (the 'hotspot'). KCNQ1 is now believed to be the most commonly mutated gene in LQTS. The combination of normal and mutan;t KCNQ1 ŕ-subunits has been found to form abnormal I KS channels, hence mutations associated with the KCNQ1 gene are also believed to act mainly through a dominant-negative mechanism (the mutatnt form interferes with the function of the normal wild-type form through a 'poison pill' type mechanism) or loss of function mechanism. Even in the case of carriers of teh same mutaion, it is currently unknown why there are significant clinical phenotype variations in LQT1 patients. This question could be answered by increasing the number of patient genotypes studied. LQT1 patients expereince a majority of their cardiac events (62 p.c.) during exercise, and only 3 p.c. occur during rest or sleep. Of the patients who experienced cardiac events while swimming, 99 p.c. were LQT1. Auditory stimuli are rare and occur in only 2 p.c. of patients. However, both lethal and non-lethal events followthe same pattern.

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