نتایج جستجو برای: myh9 gene

تعداد نتایج: 1141526  

Journal: :European journal of histochemistry : EJH 2003
T Takubo S Wakui K Daigo K Kurokata T Ohashi K Katayama M Hino

Myosin is a functional protein associated with cellular movement, cell division, muscle contraction and other functions. Members of the myosin super-family are distinguished from the myosin heavy chains that play crucial roles in cellular processes. Although there are many studies of myosin heavy chains in this family, there are fewer on non-muscle myosin heavy chains than of muscle myosin heav...

2012
Alessandro Pecci Ginevra Biino Tiziana Fierro Valeria Bozzi Annamaria Mezzasoma Patrizia Noris Ugo Ramenghi Giuseppe Loffredo Fabrizio Fabris Stefania Momi Umberto Magrini Mario Pirastu Anna Savoia Carlo Balduini Paolo Gresele

BACKGROUND MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noticed several cases with unexplained elevation of liver enzymes. Our aim was ...

2006
Usha Natraj

The mammalian estrogen induced oviductal glycoprotein (OGP) has been known to associate with capacitated sperm, oocytes and developing embryos. This study aimed to identify the putative binding partner of OGP on gametes using N-terminal peptide of bonnet monkey (Macaca radiata) OGP, Nmon, as bait. A protein(s) of molecular size ~54 kDa was detected by farwestern blot analysis of detergent solub...

2016
Na Li Taofeng Du Yunhuan Yan Angke Zhang Jiming Gao Gaopeng Hou Shuqi Xiao En-Min Zhou

Porcine reproductive and respiratory syndrome virus (PRRSV) is one of the most important viral pathogens in the swine industry. Current antiviral strategies do not effectively prevent and control PRRSV. Recent reports show that microRNAs (miRNAs) play vital roles in viral infections by post transcriptionally regulating the expression of viral or host genes. Our previous research showed that non...

2014
Thomas Hays Avi Ma’ayan Neil R. Clark Christopher M. Tan Avelino Teixeira Angela Teixeira Jae W. Choi Nora Burdis Sung Yun Jung Amol O. Bajaj Bert W. O’Malley John C. He Deborah P. Hyink Paul E. Klotman

MYH9 encodes non-muscle myosin heavy chain IIA (NMMHCIIA), the predominant force-generating ATPase in non-muscle cells. Several lines of evidence implicate a role for MYH9 in podocytopathies. However, NMMHCIIA's function in podocytes remains unknown. To better understand this function, we performed immuno-precipitation followed by mass-spectrometry proteomics to identify proteins interacting wi...

2012
Moon Ju Jang Hyun-Jeong Park So Young Chong Ji Young Huh In-Ho Kim Ja-Hyun Jang Hee-Jin Kim Doyeun Oh

In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm³; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15,000/mm³ with giant platelets....

2012
Tandi Edith Matsha Katya Masconi Yandiswa Yolanda Yako Mogamat Shafick Hassan Muiriri Macharia Rajiv Timothy Erasmus Andre Pascal Kengne

OBJECTIVE Though single nucleotide polymorphisms (SNPs) in the non-muscle myosin gene (MYH9) have been reported to explain most of the excess risk of nondiabetic chronic kidney disease (CKD), in African-Americans, some studies have also shown associations with diabetic end-stage renal disease. We investigated the association of MYH9 SNPs with renal traits in a mixed-ancestry South African popul...

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: :Blood 2007
Zhao Chen Olaia Naveiras Alessandra Balduini Akiko Mammoto Mary Anne Conti Robert S Adelstein Donald Ingber George Q Daley Ramesh A Shivdasani

The gene implicated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a protein that enables morphogenesis in diverse cell types. Defective myosin-IIA complexes are presumed to perturb megakaryocyte (MK) differentiation or generation of proplatelets. We observed that Myh9(-/-) mouse embryonic stem (ES) cells differentiate into MKs that are fully capable of...

2014
Béatrice Saposnik Sylvie Binard Odile Fenneteau Alan Nurden Paquita Nurden Marie-Françoise Hurtaud-Roux Nicole Schlegel

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...

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