Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations
نویسندگان
چکیده
منابع مشابه
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
MYH9-related disorders are autosomal dominant syndromes, variably affecting platelet formation, hearing, and kidney function, and result from mutations in the human nonmuscle myosin-IIA heavy chain gene. To understand the mechanisms by which mutations in the rod region disrupt nonmuscle myosin-IIA function, we examined the in vitro behavior of 4 common mutant forms of the rod (R1165C, D1424N, E...
متن کاملPosition of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consisten...
متن کاملPLATELETS AND THROMBOPOIESIS Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A
1National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD; 2Department of Medicine, Duke University Medical Center, Durham, NC; 3Office of Research Services, Division of Veterinary Resources, 4National Eye Institute, and 5National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD; 6Medical Service, Durham Veterans Affairs Medical Cent...
متن کاملMouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
We have generated 3 mouse lines, each with a different mutation in the nonmuscle myosin II-A gene, Myh9 (R702C, D1424N, and E1841K). Each line develops MYH9-related disease similar to that found in human patients. R702C mutant human cDNA fused with green fluorescent protein was introduced into the first coding exon of Myh9, and D1424N and E1841K mutations were introduced directly into the corre...
متن کاملMyosin 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'...
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ژورنال
عنوان ژورنال: Laboratory Investigation
سال: 2003
ISSN: 0023-6837,1530-0307
DOI: 10.1097/01.lab.0000050960.48774.17