Myosin heavy chain-9-related disorders (MYH9-RD): a case report
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منابع مشابه
Myosin heavy chain-9-related disorders (MYH9-RD): a case report
Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impairment and presenile cataracts. A 44-year-old Caucasian man was initially thought to have Alport'...
متن کاملHeavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leu...
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conclusions although we found an association between myh9 gene polymorphism and urinary albumin excretion, the results did not show a significant association between myh9 polymorphism (rs4821481) and risk of dn in iranian diabetic patients. background myosin heavy chain 9 (myh9) gene polymorphisms have been implicated in different types of renal disease, as well as in nephropathy attributed to ...
متن کاملMYH9-related platelet disorders.
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overla...
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The Deleted in liver cancer 1 (Dlc1) gene codes for a Rho GTPase-activating protein that also acts as a tumour suppressor gene. Several studies have consistently found that overexpression leads to excessive cell elongation, cytoskeleton changes and subsequent cell death. However, none of these studies have been able to satisfactorily explain the Dlc1-induced cell morphological phenotypes and th...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2013
ISSN: 2048-8505,2048-8513
DOI: 10.1093/ckj/sft094