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https://www.readbyqxmd.com/read/29679756/myh9-structure-functions-and-role-of-non-muscle-myosin-iia-in-human-disease
#1
REVIEW
Alessandro Pecci, Xuefei Ma, Anna Savoia, Robert S Adelstein
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed cytoplasmic myosin that participates in a variety of processes requiring the generation of intracellular chemomechanical force and translocation of the actin cytoskeleton. Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with other proteins. Variants of MYH9 cause an autosomal-dominant disorder, termed MYH9-related disease, and may be involved in other conditions, such as chronic kidney disease, non-syndromic deafness, and cancer...
April 18, 2018: Gene
https://www.readbyqxmd.com/read/29665793/assessing-known-chronic-kidney-disease-associated-genetic-variants-in-saudi-arabian-populations
#2
Cyril Cyrus, Samir Al-Mueilo, Chittibabu Vatte, Shahanas Chathoth, Yun R Li, Hatem Qutub, Rudaynah Al Ali, Fahad Al-Muhanna, Matthew B Lanktree, Khaled Riyad Alkharsah, Abdullah Al-Rubaish, Brian Kim-Mozeleski, Brendan Keating, Amein Al Ali
BACKGROUND: Genome wide association studies of patients with European descent have identified common variants associated with risk of reduced estimated glomerular filtration rate (eGFR). A panel of eight variants were selected to evaluate their association and prevalence in a Saudi Arabian patient cohort with chronic kidney disease (CKD). METHODS: Eight genetic variants in four genes (SHROOM3, MYH9, SLC7A9, and CST3) were genotyped in 160 CKD patients and 189 ethnicity-matched healthy controls...
April 17, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29545013/clinic-pathogenic-mechanisms-and-drug-testing-of-two-inherited-thrombocytopenias-ankrd26-and-myh9-related-diseases
#3
REVIEW
Alessandra Balduini, Hana Raslova, Christian A Di Buduo, Alessandro Donada, Matthias Ballmaier, Manuela Germeshausen, Carlo L Balduini
Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet count resulting in impaired hemostasis. Patients can have spontaneous hemorrhages and/or excessive bleedings provoked by hemostatic challenges as trauma or surgery. To date, ITs encompass 32 different rare monogenic disorders caused by mutations of 30 genes. This review will focus on the major discoveries that have been made in the last years on the diagnosis, treatment and molecular mechanisms of ANKRD26-Related Thrombocytopenia and MYH9-Related Diseases...
March 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29540510/identification-by-proteomics-of-oviductal-sperm-interacting-proteins
#4
Julie Lamy, Perrine Nogues, Lucie Combes-Soia, Guillaume Tsikis, Valérie Labas, Pascal Mermillod, Xavier Druart, Marie Saint-Dizier
The interactions between oviductal fluid (OF) proteins and spermatozoa play major roles in sperm selection, storage and capacitation before fertilization. However, only a few sperm-interacting proteins in the OF has been identified and very little is known about the regulation of sperm-oviduct interactions across the estrous cycle. Samples of bovine frozen-thawed sperm from three bulls were incubated with OF at pre-, post-ovulatory stages (Pre/Post-ov) or luteal phase (LP) of the estrous cycle (7 mg/ml proteins, treated groups), or with a protein-free media (control)...
March 14, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29533410/patient-was-wrongly-diagnosed-and-repeatedly-treated-for-immune-thrombocytopenia-for-50-years
#5
Honar Cherif, Andreas Greinacher, Norbert Lubenow
We report on a patient with inherited macrothrombocytopenia, MYH9 related disease (MYH9-RD). The patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia (ITP) for nearly 50 years. Cases of misdiagnosed MYH9-RD and other hereditary thrombocytopenias have been described previously. Typical clinical features such as renal failure and/or progressive loss of hearing should give grounds to suspect hereditary thrombocytopenia. Initial laboratory diagnosis can start with a simple blood smear followed by immunohistochemistry and genotyping...
March 13, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29532554/management-of-patients-with-severe-epstein-syndrome-a-review-of-four-patients-who-received-living-donor-renal-transplantation
#6
Junya Hashimoto, Yuko Hamasaki, Yusuke Takahashi, Mai Kubota, Taketo Yanagisawa, Yoshihiro Itabashi, Masaki Muramatsu, Takeshi Kawamura, Naonori Kumagai, Yoko Ohwada, Ken Sakai, Seiichiro Shishido
AIM: Epstein syndrome is a hereditary disease characterised by macrothrombocytopaenia and progressive nephritis. The abnormality of the MYH9 gene has a strong relationship to the severity of the disease. Severe Epstein syndrome progresses to end-stage renal disease rapidly after adolescence. There is no established therapy. We sought to clarify appropriate management of Epstein syndrome nephropathy. METHODS: Epstein syndrome patients who underwent renal transplantation at our institution between March 2009 and March 2017 were enrolled...
March 13, 2018: Nephrology
https://www.readbyqxmd.com/read/29476712/progressive-glomerular-and-tubular-damage-in-sickle-cell-trait-and-sickle-cell-anemia-mouse-models
#7
Santosh L Saraf, Justin R Sysol, Alexandru Susma, Suman Setty, Xu Zhang, Krishnamurthy P Gudehithlu, Jose A L Arruda, Ashok K Singh, Roberto F Machado, Victor R Gordeuk
Homozygosity for the hemoglobin (Hb) S mutation (HbSS, sickle cell anemia) results in hemoglobin polymerization under hypoxic conditions leading to vaso-occlusion and hemolysis. Sickle cell anemia affects 1:500 African Americans and is a strong risk factor for kidney disease, although the mechanisms are not well understood. Heterozygous inheritance (HbAS; sickle cell trait) affects 1:10 African Americans and is associated with an increased risk for kidney disease in some reports. Using transgenic sickle mice, we investigated the histopathologic, ultrastructural, and gene expression differences with the HbS mutation...
February 2, 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29438440/identification-and-characterization-of-myh9-locus-for-high-efficient-gene-knock-in-and-stable-expression-in-mouse-embryonic-stem-cells
#8
Tanbin Liu, Yi Hu, Shiyin Guo, Lei Tan, Yang Zhan, Lingchen Yang, Wei Liu, Naidong Wang, Yalan Li, Yingfan Zhang, Chengyu Liu, Yi Yang, Robert S Adelstein, Aibing Wang
Targeted integration of exogenous genes into so-called safe harbors/friend sites, offers the advantages of expressing normal levels of target genes and preventing potentially adverse effects on endogenous genes. However, the ideal genomic loci for this purpose remain limited. Additionally, due to the inherent and unresolved issues with the current genome editing tools, traditional embryonic stem (ES) cell-based targeted transgenesis technology is still preferred in practical applications. Here, we report that a high and repeatable homologous recombination (HR) frequency (>95%) is achieved when an approximate 6kb DNA sequence flanking the MYH9 gene exon 2 site is used to create the homology arms for the knockout/knock-in of diverse nonmuscle myosin II (NM II) isoforms in mouse ES cells...
2018: PloS One
https://www.readbyqxmd.com/read/29286575/myh9-macrothrombocytopenia-caused-by-a-novel-variant-e1421k-initially-presenting-as-apparent-neonatal-alloimmune-thrombocytopenia
#9
Benjamin J Samelson-Jones, Paula M Kramer, Michael Chicka, William T Gunning, Michele P Lambert
MYH9-related disease is a rare cause of thrombocytopenia. We report an infant girl who presented with severe thrombocytopenia at birth and was initially diagnosed with and treated for neonatal alloimmune thrombocytopenia. However, persistent thrombocytopenia led to the suspicion of congenital thrombocytopenia and subsequent identification of a novel variant in MYH9 (E1421K). In silico analysis strongly predicts that this is a disruptive substitution. Immunofluorescent analysis of neutrophils demonstrates abnormal aggregates of MYH9 protein...
April 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#10
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29208685/nonmuscle-myosin-2-proteins-encoded-by-myh9-myh10-and-myh14-are-uniquely-distributed-in-the-tubular-segments-of-murine-kidney
#11
Karla L Otterpohl, Ryan G Hart, Claire Evans, Kameswaran Surendran, Indra Chandrasekar
The diverse epithelial cell types of the kidneys are segregated into nephron segments and the collecting ducts in order to endow each tubular segment with unique functions. The rich diversity of the epithelial cell types is highlighted by the unique membrane channels and receptors expressed within each nephron segment. Our previous work identified a critical role for Myh9 and Myh10 in mammalian endocytosis. Here, we examined the expression patterns of Nonmuscle myosin 2 (NM2) heavy chains encoded by Myh9 , Myh10 , and Myh14 in mouse kidneys as these genes may confer unique nephron segment-specific membrane transport properties...
December 2017: Physiological Reports
https://www.readbyqxmd.com/read/29207917/functional-effects-of-snps-in-myh9-and-risks-of-nonsyndromic-orofacial-clefts
#12
Y Wang, D Li, Y Xu, L Ma, Y Lu, Z Wang, L Wang, W Zhang, Y Pan
Nonsyndromic orofacial clefts (NSOCs) are congenital newborn malformations. Myosin heavy chain 9 ( MYH9) is a candidate gene of NSOCs. To investigate the associations between single-nucleotide polymorphisms (SNPs) of MYH9 and NSOC susceptibility, a 2-stage case-control study was designed and 4 potentially functional SNPs of MYH9 (rs12107, rs2269529, rs9619601, rs5756130) were selected and genotyped by iPLEX Sequenom MassARRAY and TaqMan assay in the first stage (599 NSOC cases and 590 controls). The significant SNPs in the first stage were replicated in the second stage (676 NSOC cases and 705 controls) by TaqMan assay...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29200148/macrothrombocytopenia-with-congenital-bilateral-cataracts-a-phenotype-of-myh9-disorder-with-exon-24-indel-mutations
#13
Takahiro Aoki, Shinji Kunishima, Yoshiharu Yamashita, Kanshi Minamitani, Setsuo Ota
MYH9 disorder is characterized by large platelets and granulocyte inclusion bodies, and can be complicated with young-adult onsets of nephropathy, sensorineural hearing loss, and cataracts. Congenital cataracts in patients with MYH9 disorder is rare, and their etiology has not been elucidated. We report a 3-year-old patient with MYH9 disorder who had a p.E1066_A1072del mutation and developed cataracts congenitally. A review of the literature reveals that patients with an MYH9 exon 24 indel mutation, including p...
January 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29143464/mean-platelet-diameter-measurements-to-classify-inherited-thrombocytopenias
#14
K Fixter, D J Rabbolini, B Valecha, M-C Morel-Kopp, S Gabrielli, Q Chen, W S Stevenson, C M Ward
INTRODUCTION: Mean platelet volume (MPV) assists the differential diagnosis of inherited thrombocytopenia (IT) but lacks standardisation and varies between automated analysers. Classification of IT based on mean platelet diameter (MPD) has been proposed by an international collaborative study but has not been validated. METHODS: To assess the applicability of MPD to classify forms of IT, digital images of blood films from patients with established genetic causes for IT were generated, and the MPD measured (ZEISS Axio-scanner and Image J software) by a blinded reviewer...
November 16, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29104083/development-and-evaluation-of-a-pan-sarcoma-fusion-gene-detection-assay-using-the-nanostring-ncounter-platform
#15
Kenneth T E Chang, Angela Goytain, Tracy Tucker, Aly Karsan, Cheng-Han Lee, Torsten O Nielsen, Tony L Ng
The NanoString nCounter assay is a high-throughput hybridization technique using target-specific probes that can be customized to test for numerous fusion transcripts in a single assay using RNA from formalin-fixed, paraffin-embedded material. We designed a NanoString assay targeting 174 unique fusion junctions in 25 sarcoma types. The study cohort comprised 212 cases, 96 of which showed fusion gene expression by the NanoString assay, including all 20 Ewing sarcomas, 11 synovial sarcomas, and 5 myxoid liposarcomas tested...
January 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29090586/diagnosis-and-treatment-of-myh9-rd-in-an-australasian-cohort-with-thrombocytopenia
#16
David J Rabbolini, Yenna Chun, Maya Latimer, Shinji Kunishima, Kathleen Fixter, Bhavia Valecha, Peter Tan, Lee Ping Chew, Benjamin T Kile, Rachel Burt, Kottayam Radhakrishnan, Robert Bird, Paul Ockelford, Sara Gabrielli, Qiang Chen, William S Stevenson, Christopher M Ward, Marie-Christine Morel-Kopp
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA (NMMHC-IIA), an important motor protein in hemopoietic cells, are the most commonly encountered cause of inherited macrothrombocytopenia. Despite distinguishing features including an autosomal dominant mode of inheritance, giant platelets on the peripheral blood film accompanied by leucocytes with cytoplasmic inclusion bodies (döhle-like bodies), these disorders remain generally under-recognized and often misdiagnosed as immune thrombocytopenia (ITP)...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29070483/research-progress-of-myosin-heavy-chain-genes-in-human-genetic-diseases
#17
Yi-Min He, Ming-Min Gu
Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans. At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases...
October 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29066485/new-alert-message-settings-for-the-xn-series-automated-hematology-analyzer-are-useful-for-avoiding-falsely-high-wbc-counts-and-to-detect-specimens-with-giant-platelets
#18
Tohru Inaba, Bunta Shimomoto, Yoichi Yuki, Keita Okumura, Hiroshi Nishimura, Katsuhiro Koshino, Shuji Nobori, Atsushi Wada, Naohisa Fujita
We encountered blood specimens from a patient with MYH9 related diseases, which gave falsely high white blood cell (WBC) counts during laboratory analysis using Sysmex XN-series automated hematology analyzers. This overcount was revealed to be caused by the overlapping of platelet (PLT) distribution with the WBC area in the WNR channel, which was used for routine WBC count with the XN-series. On the other hand, the WBC count obtained through the WDF channel of the XN-series seemed more accurate in such a case...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29027377/contribution-of-extracellular-matrix-and-signal-mechanotransduction-to-epithelial-cell-damage-in-inflammatory-bowel-disease-patients-a-proteomic-study
#19
Manuela Moriggi, Luca Pastorelli, Enrica Torretta, Gian Eugenio Tontini, Daniele Capitanio, Stefano Ferrero Bogetto, Maurizio Vecchi, Cecilia Gelfi
This study utilizes 2D-DIGE (difference gel etrophoresis), isotope-coded protein labeling and biochemical assays to characterize protein alteration in ulcerative colitis (UC) and Crohn's disease (CD) in human epithelial cell and mucosal biopsies in inflammatory bowel disease (IBD)-affected patients. The aim of this study is to identify the key molecular signatures involved in epithelial cell structure of IBDs. In non-inflamed UC (QUC) keratins, vimentin, and focal adhesion kinase (7) increased, whereas vinculin and de-tyrosinated α-tubulin decreased; inflammation (IUC) exacerbated molecular changes, being collagen type VI alpha 1 chain (COL6A1), tenascin-C and vimentin increased...
December 2017: Proteomics
https://www.readbyqxmd.com/read/28993503/-myh9-e1841k-mutation-augments-proteinuria-and-podocyte-injury-and-migration
#20
Sylvia Cechova, Fan Dong, Fang Chan, Michael J Kelley, Phillip Ruiz, Thu H Le
Intronic variants of the MYH9 gene that encodes the nonmuscle myosin heavy chain IIA are associated with diabetic nephropathy in European Americans and with sickle cell disease-associated nephropathy. However, the causal functional variants of MYH9 have remained elusive. Rare missense mutations in MYH9 cause macrothrombocytopenia and are occasionally associated with development of nephropathy. The E1841K mutation is among the common MYH9 missense mutations and has been associated with nephropathy in some carriers...
January 2018: Journal of the American Society of Nephrology: JASN
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