MYH9 Mutation, the Hidden Face of Diverse Disease Spectrum - from Renal Perspective. Renal Perspective of MYH9 Mutation
نویسندگان
چکیده
منابع مشابه
MYH9 Mutation, the Hidden Face of Diverse Disease Spectrum - from Renal Perspective. Renal Perspective of MYH9 Mutation
MYH9 gene mutation results in a spectrum of diseases, such as May -Heglin anomaly and Epstein syndrome, depending upon the type of isoforms involved [1]. This mutation is inherited as an autosomal dominant entity and the gene encodes for non-muscle myosin heavy chain IIA (NMMHC-IIA) which is a part of myosin superfamily. The exact incidence of this disease in different populations is yet to be ...
متن کاملDouble nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease.
Alport’s syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1]. A...
متن کاملMutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
MYH9-Related Disorders are a group of rare autosomal dominant platelet disorders presenting as nonsyndromic forms characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies or as syndromic forms combining these hematological features with deafness and/or nephropathy and/or cataracts. They are caused by mutations in the MYH9 gene encoding the nonmuscle myosin heav...
متن کاملPerspective: Spontaneous Deleterious Mutation.
Mildly deleterious mutation has been invoked as a leading explanation for a diverse array of observations in evolutionary genetics and molecular evolution and is thought to be a significant risk of extinction for small populations. However, much of the empirical evidence for the deleterious-mutation process derives from studies of Drosophila melanogaster, some of which have been called into que...
متن کاملTransfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
BACKGROUND Heterozygous mutations of MYH9, encoding the Non-Muscular Myosin Heavy Chain-IIA (NMMHC-IIA), cause a complex disorder named MYH9-related disease, characterized by a combination of different phenotypic features. At birth, patients present platelet macrocytosis, thrombocytopenia and leukocyte inclusions containing NMMHC-IIA. Moreover, later in life some of them develop the additional ...
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ژورنال
عنوان ژورنال: Urology & Nephrology Open Access Journal
سال: 2017
ISSN: 2378-3176
DOI: 10.15406/unoaj.2017.05.00181