منابع مشابه
Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans.
BACKGROUND Polymorphisms in the non-muscle myosin IIA gene (MYH9) are associated with focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease (ESRD) in African Americans and FSGS in European Americans. We tested for association of single nucleotide polymorphisms (SNPs) in MYH9 with T2DM-ESRD in European Americans; additionally, three APOL1 gene variants were evaluated...
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...
متن کاملMYH9 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 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 ...
متن کاملDifferential Effects of MYH9 and APOL1 Risk Variants on FRMD3 Association with Diabetic ESRD in African Americans
Single nucleotide polymorphisms (SNPs) in MYH9 and APOL1 on chromosome 22 (c22) are powerfully associated with non-diabetic end-stage renal disease (ESRD) in African Americans (AAs). Many AAs diagnosed with type 2 diabetic nephropathy (T2DN) have non-diabetic kidney disease, potentially masking detection of DN genes. Therefore, genome-wide association analyses were performed using the Affymetri...
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ژورنال
عنوان ژورنال: Kidney Research and Clinical Practice
سال: 2015
ISSN: 2211-9132
DOI: 10.1016/j.krcp.2014.09.003