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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
#1
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
#2
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
#3
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...
September 16, 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
#4
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
#5
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
#6
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
#7
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...
July 28, 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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28664914/lim-kinase-1-interacts-with-myosin-9-and-alpha-actinin-4-and-promotes-colorectal-cancer-progression
#12
Qing Liao, Rui Li, Rui Zhou, Zhihua Pan, Lijun Xu, Yanqing Ding, Liang Zhao
BACKGROUND: LIM kinase 1 (LIMK1) is a key regulator of the cytoskeletal organisation involved in cell proliferation and migration. Even though LIMK1 is frequently dysregulated in epithelial cancers, the role and mechanisms of LIMK1 in colorectal cancer (CRC) remains unclear. METHODS: Immunohistochemical analysis was performed to examine the expression and clinical significance of LIMK1 in CRC samples. Loss- and gain-of-function assay was performed to investigate the effects of aberrant expression on cellular biological behaviour of CRC cells in vitro and in vivo...
August 8, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28650484/insertional-mutagenesis-identifies-drivers-of-a-novel-oncogenic-pathway-in-invasive-lobular-breast-carcinoma
#13
Sjors M Kas, Julian R de Ruiter, Koen Schipper, Stefano Annunziato, Eva Schut, Sjoerd Klarenbeek, Anne Paulien Drenth, Eline van der Burg, Christiaan Klijn, Jelle J Ten Hoeve, David J Adams, Marco J Koudijs, Jelle Wesseling, Micha Nethe, Lodewyk F A Wessels, Jos Jonkers
Invasive lobular carcinoma (ILC) is the second most common breast cancer subtype and accounts for 8-14% of all cases. Although the majority of human ILCs are characterized by the functional loss of E-cadherin (encoded by CDH1), inactivation of Cdh1 does not predispose mice to develop mammary tumors, implying that mutations in additional genes are required for ILC formation in mice. To identify these genes, we performed an insertional mutagenesis screen using the Sleeping Beauty transposon system in mice with mammary-specific inactivation of Cdh1...
August 2017: Nature Genetics
https://www.readbyqxmd.com/read/28604953/-genetic-analysis-of-a-pedigree-affected-with-inherited-thrombocytopenia-caused-by-a-novel-mutation-of-myh9-gene
#14
Wenjun Liao, Xiaocheng Luo, Xue Zhang, Ping Chen, Huayu Wu, Wei Shu, Zhigang Yuan
OBJECTIVE: To study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi. METHODS: Blood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced. RESULTS: The affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28594466/bleeding-is-not-the-main-clinical-issue-in-many-patients-with-inherited-thrombocytopaenias
#15
REVIEW
F Melazzini, C Zaninetti, C L Balduini
Bleeding diathesis has been considered for a long time the main clinical issue impacting the lives of patients affected by inherited thrombocytopaenias. However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these 'new' disorders revealed that most of them are at risk of developing additional life-threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count...
June 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28516481/massive-mediastinal-enlargement-due-to-extramedullary-haematopoiesis-in-a-patient-with-myh9-related-thrombocytopenia
#16
Carlo Zaninetti, Emanuela Boveri, Federica Melazzini
No abstract text is available yet for this article.
May 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#17
A Greinacher, A Pecci, S Kunishima, K Althaus, P Nurden, C L Balduini, T Bakchoul
Essentials There are many hereditary platelet disorders (HPD) but diagnosing these is challenging. We provide a method to diagnose several HPDs using standard blood smears requiring < 100 µL blood. By this approach, the underlying cause of HPD was characterized in ~25-30% of referred individuals. The method facilitates diagnosis of HPD for patients of all ages around the world. SUMMARY: Background Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging...
July 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28368695/myh9-gene-mutations-associated-with-bleeding
#18
Anna Savoia, Daniela De Rocco, Alessandro Pecci
No abstract text is available yet for this article.
May 2017: Platelets
https://www.readbyqxmd.com/read/28361956/role-for-formin-like-1-dependent-acto-myosin-assembly-in-lipid-droplet-dynamics-and-lipid-storage
#19
Simon G Pfisterer, Gergana Gateva, Peter Horvath, Juho Pirhonen, Veijo T Salo, Leena Karhinen, Markku Varjosalo, Samppa J Ryhänen, Pekka Lappalainen, Elina Ikonen
Lipid droplets (LDs) are cellular organelles specialized in triacylglycerol (TG) storage undergoing homotypic clustering and fusion. In non-adipocytic cells with numerous LDs this is balanced by poorly understood droplet dissociation mechanisms. We identify non-muscle myosin IIa (NMIIa/MYH-9) and formin-like 1 (FMNL1) in the LD proteome. NMIIa and actin filaments concentrate around LDs, and form transient foci between dissociating LDs. NMIIa depletion results in decreased LD dissociations, enlarged LDs, decreased hydrolysis and increased storage of TGs...
March 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28184940/circular-rna-and-gene-expression-profiles-in-gastric-cancer-based-on-microarray-chip-technology
#20
COMPARATIVE STUDY
Weiguo Sui, Zhoufang Shi, Wen Xue, Minglin Ou, Ying Zhu, Jiejing Chen, Hua Lin, Fuhua Liu, Yong Dai
The aim of the present study was to screen gastric cancer (GC) tissue and adjacent tissue for differences in mRNA and circular (circRNA) expression, to analyze the differences in circRNA and mRNA expression, and to investigate the circRNA expression in gastric carcinoma and its mechanism. circRNA and mRNA differential expression profiles generated using Agilent microarray technology were analyzed in the GC tissues and adjacent tissues. qRT-PCR was used to verify the differential expression of circRNAs and mRNAs according to the interactions between circRNAs and miRNAs as well as the possible existence of miRNA and mRNA interactions...
March 2017: Oncology Reports
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