https://transhumanist.ru/index.php?action=history&feed=atom&title=SBDS 2026-04-10T15:24:23Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=SBDS&diff=5413&oldid=prev 2021-05-12T13:42:56Z

<p>Новая страница: «Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein) [CGI-97] ==Publications== {{medline-entry |title=The route to development of myelod...»</p> <p><b>Новая страница</b></p><div>Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein) [CGI-97]<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19222471<br /> |abstract=An investigation of 22 new patients with Shwachman-Diamond syndrome ([[SDS]]) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific [[SDS]] karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. We conclude that karyotype instability is part of the natural history of [[SDS]] through a specific mutator effect, linked to lacking [[SBDS]] protein, with consequent clonal anomalies of chromosomes 7 and 20 in BM, which may eventually promote MDS/AML with the patients&#039; ageing.<br /> |mesh-terms=* Adolescent<br /> * Adult<br /> * Aging<br /> * Bone Marrow Cells<br /> * Child<br /> * Child, Preschool<br /> * Chromosome Aberrations<br /> * Chromosome Breakage<br /> * Chromosomes, Human, Pair 20<br /> * Chromosomes, Human, Pair 7<br /> * DNA Mutational Analysis<br /> * Disease Progression<br /> * Female<br /> * Follow-Up Studies<br /> * Humans<br /> * In Situ Hybridization, Fluorescence<br /> * Isochromosomes<br /> * Karyotyping<br /> * Leukemia, Myeloid, Acute<br /> * Male<br /> * Myelodysplastic Syndromes<br /> * Proteins<br /> * Young Adult<br /> <br /> |full-text-url=https://sci-hub.do/10.1111/j.1365-2141.2009.07611.x<br /> }}</div>

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