They were previously described as the May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, yet they all result from autosomal dominant mutations in the cytoskeletal protein MYH9
and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population.
aids in maintaining cell shape, cell motility, and cytokinesis as a conventional nonmuscle myosin .
is associated with nondiabetic end-stage renal disease in African Americans.
Doron Behar of Rambam Medical Center, discovered highly informative DNA markers in the MYH9
Velocardiofacial syndrome, MYH9
gene-related disorders and Jacobsen syndrome (JBS) are well-known inherited syndromes of thrombocytopenias, in which platelets are increased in size and affected probands have unique phenotypic expressions such as cardiovascular, renal, skeletal and gonadal anomalies .
A mutation in the MYH9
gene that encodes for non-muscle myosin heavy chain, a cytoskeletal protein in platelets, may be responsible for the abnormal platelet diameter.
TGF-[beta] and a specific TGF-[beta] inhibitor regulate pericentrin B and MYH9
in glioma cell lines
3 C0L11A2 Prelingual Stable DFNA14/4p16 -- Postlingual/1st-2nd Progressive DFNA15/5q31 POU4F3 Postlingual/2nd-3rd Progressive DFNA16/2q24 -- Postlingual/2nd Fluctuates DFNA17/22q MYH9
Postlingual/1st Progressive DFNA18/3q22 -- -- -- DFNA19/10 -- Prelingual Stable DFNA20/17q25 -- -- -- DFNA21/6p21 -- -- -- DFNA22/6q13 MY06 -- -- DFNA28/8q22 TFCP2L3 -- Progressive DFNA36/9q13-21 TMC1 -- -- Adapted from Van Camp & Smith (2003).