نتایج جستجو برای: ژن myh9

تعداد نتایج: 16127  

Journal: :Circulation. Cardiovascular genetics 2011
Nicole L Glazer

Study Hypothesis African Americans have much higher rates of kidney failure than those of European ancestry. Previous genetic studies found variation at or near the MYH9 gene to be associated with increased risk of focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD), but the causal mutations in MYH9 were not identified. The authors hypothesize...

2010
Chang-Hsun Hsieh Yi-Jen Hung Dee Pei Shi-Wen Kuo Eugene Lin

Nowadays diabetic nephropathy (DN) is the most common cause of end-stage renal disease (ESRD). Recent studies have demonstrated that the myosin, heavy chain 9, non-muscle (MYH9) gene is associated with ESRD in African Americans. In this study, we tested the hypothesis that a common single nucleotide polymorphism rs16996677 in the MYH9 gene may contribute to the etiology of DN in type 2 diabetes...

Journal: :PathoGenetics 2008
Emanuele Panza Monica Marini Alessandro Pecci Francesca Giacopelli Valeria Bozzi Marco Seri Carlo Balduini Roberto Ravazzolo

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 ...

Journal: :Pediatrics 2013
Remi Favier Joffrey Feriel Marie Favier Françoise Denoyelle John A Martignetti

MYH9-related disease (MYH9-RD) is one of the most frequent autosomal-dominant forms of inherited macrothrombocytopenias and is caused by mutations in MYH9 (nonmuscle myosin IIA), the gene coding for the heavy chain of the nonmuscle myosin IIA. Affected individuals can present with isolated thrombocytopenia, and whereas only some will have bleeding events requiring intervention, nearly all will ...

Journal: :iranian red crescent medical journal 0
effat asdadollahpour medical biotechnology research center, ashkezar branch, islamic azad university, ashkezar, yazd, ir iran maryam daneshpour cellular and molecular endocrine research center, research institute for endocrine sciences, shahid beheshti university of medical sciences, tehran, ir iran bahareh sedaghati khayat cellular and molecular endocrine research center, research institute for endocrine sciences, shahid beheshti university of medical sciences, tehran, ir iran arsalan hashemiaghdam diabetes research center, endocrinology and metabolism clinical sciences institute, tehran university of medical sciences, tehran, ir iran mahsa mohammad amoli endocrinology and metabolism research center, endocrinology and metabolism clinical sciences institute, tehran university of medical sciences, tehran, ir iran mostafa qorbani department of community medicine, alborz university of medical sciences, karaj, ir iran

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 ...

Journal: :Human mutation 2008
Alessandro Pecci Emanuele Panza Núria Pujol-Moix Catherine Klersy Filomena Di Bari Valeria Bozzi Paolo Gresele Stefan Lethagen Fabrizio Fabris Carlo Dufour Antonio Granata Michael Doubek Carmine Pecoraro Pasi A Koivisto Paula G Heller Achille Iolascon Patrizia Alvisi Dirk Schwabe Erica De Candia Bianca Rocca Umberto Russo Ugo Ramenghi Patrizia Noris Marco Seri Carlo L Balduini Anna Savoia

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...

2010
Taras K. Oleksyk George W. Nelson Ping An Jeffrey B. Kopp Cheryl A. Winkler

MYH9 was recently identified as renal susceptibility gene (OR 3-8, p < 10(-8)) for major forms of kidney disease disproportionately affecting individuals of African descent. The risk haplotype (E-1) occurs at much higher frequencies in African Americans (> or = 60%) than in European Americans (< 4%), revealing a genetic basis for a major health disparity. The population distributions of MYH9 ri...

2016
Yuka Yamashita Rei Matsuura Shinji Kunishima Yoshie Oikawa Hirotsugu Ariizumi Shoko Hamada Nahoko Shirato Ryu Matsuoka Kohichi Ogawa Akihiko Sekizawa

We diagnosed a primipara woman with an MYH9 disorder during her pregnancy. A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing MYH9 disorders. We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her of...

Journal: :Blood 2006
Yujie Huang Hubing Shi Hao Zhou Xiaomin Song Shaopeng Yuan Yongzhang Luo

Nucleolin, originally described as a nuclear protein, was recently found to be expressed on the surface of endothelial cells during angiogenic. However, the functions of cell-surface nucleolin in angiogenic remain mysterious. Here we report that upon endothelial cells adhering to extracellular matrix components, vascular endothelial growth factor (VEGF) mobilizes nucleolin from nucleus to cell ...

2014
Alan R. Morrison Timur O. Yarovinsky Bryan D. Young Filipa Moraes Tyler D. Ross Nicolle Ceneri Jiasheng Zhang Zhen W. Zhuang Albert J. Sinusas Ruggero Pardi Martin A. Schwartz Michael Simons Jeffrey R. Bender

Myeloid cells are important contributors to arteriogenesis, but their key molecular triggers and cellular effectors are largely unknown. We report, in inflammatory monocytes, that the combination of chemokine receptor (CCR2) and adhesion receptor (β2 integrin) engagement leads to an interaction between activated Rac2 and Myosin 9 (Myh9), the heavy chain of Myosin IIA, resulting in augmented vas...

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