Počet záznamů: 1
Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome
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SYSNO ASEP 0350950 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Ostatní články Název Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome Tvůrce(i) Raška, Ivan (FGU-C) Zdroj.dok. Interdisciplinary Toxicology - ISSN 1337-6853
Roč. 3, č. 3 (2010), s. 89-93Poč.str. 5 s. Jazyk dok. eng - angličtina Země vyd. SK - Slovensko Klíč. slova laminopathies ; Hutchinson-Gilford progeria syndrome ; progerin Vědní obor RIV EA - Morfologické obory a cytologie CEZ AV0Z50110509 - FGU-C (2005-2011) DOI 10.2478/v10102-010-0018-y Anotace Ranged among laminopathies, Hutchinson-Gilford progeria syndrome is a syndrome that involves premature aging, leading usually to death at the age between 10 to 14 years predominatly due to a myocardial infarction or a stroke. The genetic basis in most cases is a mutation at the nucleotide position 1824 of the lamin A gene. At this position, cytosine is substituted for thymine so that a cryptic splice site within the precursor mRNA for lamin A is generated. This results in a production of abnormal lamin A, termed progerin, its presence in cells having a deleterious dominant effect. Depending on the cell type and tissue, progerin induces a pleiotropy of defects that vary in different tissues Pracoviště Fyziologický ústav Kontakt Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Rok sběru 2011
Počet záznamů: 1