Clinical manifestation and molecular genetic characterization of MYH9 disorders

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F09%3A00008201" target="_blank" >RIV/00023736:_____/09:00008201 - isvavai.cz</a>
Result on the web
—
DOI - Digital Object Identifier
—

Result language
angličtina
Original language name
Clinical manifestation and molecular genetic characterization of MYH9 disorders
Original language description
Manifestations of the MYH9 disorders include giant platelets, thrombocytopenia and combinations of the presence of granulocyte inclusions, deafness, cataracts and renal failure. We examined 15 patients from 10 unrelated families for immunostaining of NMMHC-IIA in blood samples and mutation analysis of exons in MYH9 gene. It revealed mutations in nine patients. It is possible that the mutation of the MYH9 gene only aggravates MHA, FTNS and SBS, but does not give rise to thrombocytopenia and associated bleeding. Therefore we performed mRNA microarray assay to know, if there was any gene with extremely up/down-regulated expression.
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
—

Project
<a href="/en/project/NR8762" target="_blank" >NR8762: Inherited thrombocytopenias caused by mutations in the gene (MYH9) encoding nonmuscle myosin</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)