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https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#1
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
#2
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
#3
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
#4
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...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29143464/mean-platelet-diameter-measurements-to-classify-inherited-thrombocytopenias
#5
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
#6
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...
November 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29090586/diagnosis-and-treatment-of-myh9-rd-in-an-australasian-cohort-with-thrombocytopenia
#7
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
#8
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
#9
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
#10
Manuela Moriggi, Luca Pastorelli, Enrica Torretta, Gian Eugenio Tontini, Daniele Capitanio, Stefano Ferrero Bogetto, Maurizio Vecchi, Cecilia Gelfi
This study utilized 2D-DIGE, isotope-coded protein labelling (ICPL) 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 FAK increased, whereas vinculin and de-tyrosinated α-tubulin decreased; inflammation (IUC) exacerbated molecular changes, being COL6A1, tenascin-C and vimentin increased...
October 13, 2017: Proteomics
https://www.readbyqxmd.com/read/28993503/myh9-e1841k-mutation-augments-proteinuria-and-podocyte-injury-and-migration
#11
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...
October 9, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28921865/extramedullary-hematopoiesis-a-new-feature-of-inherited-thrombocytopenias
#12
C Zaninetti, F Melazzini, G A Croci, E Boveri, C L Balduini
Essentials Extramedullary hematopoiesis (EMH) represents a pathologic finding in adult life. We report a mass-like EMH in the presacral space in a patient with ANKRD26-related thrombocytopenia. We found possible correlation between EMH and conditions causing lifelong thrombocytopenia. EMH can cause masses of unknown origin in patients with inherited thrombocytopenias. SUMMARY: Most commonly located in the liver and spleen, extramedullary hematopoiesis (EMH) is the presence of hematopoietic tissue outside the bone marrow...
November 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28900514/microrna-647-targets-srf-myh9-axis-to-suppress-invasion-and-metastasis-of-gastric-cancer
#13
Gengtai Ye, Kunzhai Huang, Jiang Yu, Liying Zhao, Xianjun Zhu, Qingbin Yang, Wende Li, Yuming Jiang, Baoxiong Zhuang, Hao Liu, Zhiyong Shen, Da Wang, Li Yan, Lei Zhang, Haipeng Zhou, Yanfeng Hu, Haijun Deng, Hao Liu, Guoxin Li, Xiaolong Qi
MicroRNAs (miRNAs) play important roles in regulating tumour development and progression. Here we show that miR-647 is repressed in gastric cancer (GC), and associated with GC metastasis. Moreover, we identify that miR-647 can suppress GC cell migration and invasion in vitro. Mechanistically, we confirm miR-647 directly binds to the 3' untranslated regions of SRF mRNA, and SRF binds to the CArG box located at the MYH9 promoter. CCG-1423, an inhibitor of RhoA/SRF-mediated gene transcription, inhibits the expression of MYH9, especially in SRF downregulated cells...
2017: Theranostics
https://www.readbyqxmd.com/read/28815995/progressive-macrothrombocytopenia-and-hearing-loss-in-a-large-family-with-diaph1-related-disease
#14
Akira Ganaha, Tadashi Kaname, Ayano Shinjou, Yasutsugu Chinen, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Mikio Suzuki
In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R1213X. All patients in the family had sensorineural hearing loss and macrothrombocytopenia. None of the patients exhibited a tendency to bleed. No pathogenic variants were found in the MYH9 gene. Hearing loss began with high-frequency loss during early childhood and progressed to severe hearing loss involving all frequencies...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28795988/eltrombopag-to-treat-thrombocytopenia-during-last-month-of-pregnancy-in-a-woman-with-myh9-related-disease-a-case-report
#15
Remi Favier, Celine De Carne, Elisabeth Elefant, Ruxanda Lapusneanu, Vasiliki Gkalea, Agnès Rigouzzo
MYH9-related disease (MYH9-RD) is an inherited rare autosomal dominant macrothrombocytopenia. Patients with MYH9-RD have giant platelets and leukocyte inclusion bodies caused by mutations in the MYH9 gene encoding the non-muscle myosin heavy chain II-A. Before identification of the causative gene, patients were diagnosed as Epstein or Fechtner or Sebastian syndromes or May-Hegglin anomaly. As with other inherited thrombocytopenias, the risk of increased bleeding during perioperative period or delivery is a major concern...
August 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28752842/usp6-activation-in-nodular-fasciitis-by-promoter-swapping-gene-fusions
#16
Nimesh R Patel, John S A Chrisinger, Elizabeth G Demicco, Stephen F Sarabia, Jacquelyn Reuther, Erica Kumar, Andre M Oliveira, Steven D Billings, Judith V M G Bovée, Angshumoy Roy, Alexander J Lazar, Dolores H Lopez-Terrada, Wei-Lien Wang
Nodular fasciitis is a self-limited myofibroblastic lesion that can be misdiagnosed as a sarcoma as a result of its rapid growth, cellularity, and sometimes prominent mitotic activity. A recurrent translocation t(17;22) has been identified in nodular fasciitis, fusing the coding region of USP6 to the promoter region of MYH9, and resulting in increased USP6 expression. A subset of cases show USP6 rearrangement without the typical fusion variants by RT-PCR, or any MYH9 rearrangement by FISH. We sought to further characterize such tumors using molecular diagnostic assays...
November 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28715041/diagnostic-single-gene-analyses-beyond-sanger-economic-high-throughput-sequencing-of-small-genes-involved-in-congenital-coagulation-and-platelet-disorders
#17
Juliane Najm, Matthias Rath, Winnie Schröder, Ute Felbor
Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes...
July 17, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28714588/cellular-force-assay-detects-altered-contractility-caused-by-a-nephritis-associated-mutation-in-nonmuscle-myosin-iia
#18
Shota P Fukuda, Tsubasa S Matsui, Takafumi Ichikawa, Taichi Furukawa, Noriyuki Kioka, Shuichiro Fukushima, Shinji Deguchi
Recent progress in understanding the essential roles of mechanical forces in regulating various cellular processes expands the field of biology to one where interdisciplinary approaches with engineering techniques become indispensable. Contractile forces or contractility-inherently present in proliferative cells due to the activity of ubiquitous nonmuscle myosin II (NMII)-are one of such mechano-regulators, but because NMII works downstream of diverse signaling pathways, it is often difficult to predict how the inherent cellular forces change upon perturbations to particular molecules...
July 17, 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28688473/myh9-related-thrombocytopenia
#19
Byung Hoon Ban, Vrushali Shah
No abstract text is available yet for this article.
July 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28682562/-renal-diseases-related-to-myh9-disorders
#20
REVIEW
Dario Galeano, Luca Zanoli, Vincenzo L'Imperio, Pasquale Fatuzzo, Antonio Granata
Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts...
April 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
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