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https://www.readbyqxmd.com/read/28604953/-genetic-analysis-of-a-pedigree-affected-with-inherited-thrombocytopenia-caused-by-a-novel-mutation-of-myh9-gene
#1
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
#2
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
#3
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
#4
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...
April 29, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28368695/myh9-gene-mutations-associated-with-bleeding
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28160562/the-tumor-suppressor-capability-of-p53-is-dependent-on-non-muscle-myosin-iia-function-in-head-and-neck-cancer
#8
Sonya D Coaxum, Jessica Tiedeken, Elizabeth Garrett-Mayer, Jeffrey Myers, Steven A Rosenzweig, David M Neskey
Over 300,000 patients develop squamous cell carcinoma of the head and neck (HNSCC) worldwide with 25-30% of patients ultimately dying from their disease. Currently, molecular biomarkers are not used in HNSCC but several genes have been identified including mutant TP53 (mutp53). Our recent work has identified an approach to stratify patients with tumors harboring high or low risk TP53 mutations. Non-muscle Myosin IIA (NMIIA) was recently identified as a tumor suppressor in HNSCC. We now demonstrate that low MYH9 expression is associated with decreased survival in patients with head and neck cancer harboring low-risk mutp53 but not high-risk mutp53...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28153611/phosphoglycerol-dihydroceramide-a-distinctive-ceramide-produced-by-porphyromonas-gingivalis-promotes-rankl-induced-osteoclastogenesis-by-acting-on-non-muscle-myosin-ii-a-myh9-an-osteoclast-cell-fusion-regulatory-factor
#9
Hiroyuki Kanzaki, Alexandru Movila, Rayyan Kayal, Marcelo H Napimoga, Kenji Egashira, Floyd Dewhirst, Hajime Sasaki, Mohammed Howait, Ayman Al-Dharrab, Abdulghani Mira, Xiaozhe Han, Martin A Taubman, Frank C Nichols, Toshihisa Kawai
Among several virulence factors produced by the periodontal pathogen Porphyromonas gingivalis (Pg), a recently identified novel class of dihydroceramide lipids that contains a long acyl-chain has the potential to play a pathogenic role in periodontitis because of its higher level of tissue penetration compared to other lipid classes produced by Pg. However, the possible impact of Pg ceramides on osteoclastogenesis is largely unknown. In the present study, we report that the phosphoglycerol dihydroceramide (PGDHC) isolated from Pg enhanced osteoclastogenesis in vitro and in vivo...
May 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28075205/a-genomic-and-protein-protein-interaction-analyses-of-nonsyndromic-hearing-impairment-in-cameroon-using-targeted-genomic-enrichment-and-massively-parallel-sequencing
#10
Kamogelo Lebeko, Noluthando Manyisa, Emile R Chimusa, Nicola Mulder, Collet Dandara, Ambroise Wonkam
Hearing impairment (HI) is one of the leading causes of disability in the world, impacting the social, economic, and psychological well-being of the affected individual. This is particularly true in sub-Saharan Africa, which carries one of the highest burdens of this condition. Despite this, there are limited data on the most prevalent genes or mutations that cause HI among sub-Saharan Africans. Next-generation technologies, such as targeted genomic enrichment and massively parallel sequencing, offer new promise in this context...
February 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#11
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
April 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28049826/myh9-binds-to-lncrna-gene-ptcsc2-and-regulates-foxe1-in-the-9q22-thyroid-cancer-risk-locus
#12
Yanqiang Wang, Huiling He, Wei Li, John Phay, Rulong Shen, Lianbo Yu, Baris Hancioglu, Albert de la Chapelle
A locus on chromosome 9q22 harbors a SNP (rs965513) firmly associated with risk of papillary thyroid carcinoma (PTC). The locus also comprises the forkhead box E1 (FOXE1) gene, which is implicated in thyroid development, and a long noncoding RNA (lncRNA) gene, papillary thyroid cancer susceptibility candidate 2 (PTCSC2). How these might interact is not known. Here we report that PTCSC2 binds myosin-9 (MYH9). In a bidirectional promoter shared by FOXE1 and PTCSC2, MYH9 inhibits the promoter activity in both directions...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28011908/genital-injury-signatures-and-microbiome-alterations-associated-with-depot-medroxyprogesterone-acetate-usage-and-intravaginal-drying-practices
#13
Kenzie D Birse, Laura M Romas, Brandon L Guthrie, Peter Nilsson, Rose Bosire, James Kiarie, Carey Farquhar, Kristina Broliden, Adam D Burgener
Background.: Increasing evidence suggests depot medroxyprogesterone acetate (DMPA) and intravaginal practices may be associated with human immunodeficiency virus (HIV-1) infection risk; however, the mechanisms are not fully understood. This study evaluated the effect of DMPA and intravaginal practices on the genital proteome and microbiome to gain mechanistic insights. Methods.: Cervicovaginal secretions from 86 Kenyan women, including self-reported DMPA users (n = 23), nonhormonal contraceptive users (n = 63), and women who practice vaginal drying (n = 46), were analyzed using tandem-mass spectrometry...
February 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28011197/septin-7-reduces-nonmuscle-myosin-iia-activity-in-the-snap23-complex-and-hinders-glut4-storage-vesicle-docking-and-fusion
#14
Anita A Wasik, Vincent Dumont, Jukka Tienari, Tuula A Nyman, Christopher L Fogarty, Carol Forsblom, Markku Lehto, Eero Lehtonen, Per-Henrik Groop, Sanna Lehtonen
Glomerular epithelial cells, podocytes, are insulin responsive and can develop insulin resistance. Here, we demonstrate that the small GTPase septin 7 forms a complex with nonmuscle myosin heavy chain IIA (NMHC-IIA; encoded by MYH9), a component of the nonmuscle myosin IIA (NM-IIA) hexameric complex. We observed that knockdown of NMHC-IIA decreases insulin-stimulated glucose uptake into podocytes. Both septin 7 and NM-IIA associate with SNAP23, a SNARE protein involved in GLUT4 storage vesicle (GSV) docking and fusion with the plasma membrane...
January 15, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/27981441/distribution-of-cellular-hsv-1-receptor-expression-in-human-brain
#15
Richard Lathe, Juergen G Haas
Herpes simplex virus type 1 (HSV-1) is a neurotropic virus linked to a range of acute and chronic neurological disorders affecting distinct regions of the brain. Unusually, HSV-1 entry into cells requires the interaction of viral proteins glycoprotein D (gD) and glycoprotein B (gB) with distinct cellular receptor proteins. Several different gD and gB receptors have been identified, including TNFRSF14/HVEM and PVRL1/nectin 1 as gD receptors and PILRA, MAG, and MYH9 as gB receptors. We investigated the expression of these receptor molecules in different areas of the adult and developing human brain using online transcriptome databases...
June 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/27958602/severe-to-profound-deafness-may-be-associated-with-myh9-related-disease-report-of-4-patients
#16
P Canzi, A Pecci, M Manfrin, E Rebecchi, C Zaninetti, V Bozzi, M Benazzo
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27924804/association-of-myh9-polymorphisms-with-hypertension-in-patients-with-chronic-kidney-disease-in-china
#17
Liping Liu, Caili Wang, Yan Mi, Dan Liu, Li Li, Junying Fan, Lei Nan, Niya Jia, Yu Du
BACKGROUND/AIMS: This study explored the correlation between hypertension and non-muscle myosin heavy chain 9 (MYH9) gene polymorphisms in Chinese chronic kidney disease (CKD) patients. METHODS: This case-control study included 301 patients with CKD and 293 healthy controls. The E1 haplotype single nucleotide polymorphisms (SNPs) rs3752462 and rs4821480 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The association between MYH9 polymorphisms and high systolic blood pressure (SBP ≥ 140 mmHg) susceptibility in CKD patients was analysed...
2016: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/27882344/slit2-robo2-signaling-pathway-inhibits-nonmuscle-myosin-iia-activity-and-destabilizes-kidney-podocyte-adhesion
#18
Xueping Fan, Hongying Yang, Sudhir Kumar, Kathleen E Tumelty, Anna Pisarek-Horowitz, Hila Milo Rasouly, Richa Sharma, Stefanie Chan, Edyta Tyminski, Michael Shamashkin, Mostafa Belghasem, Joel M Henderson, Anthony J Coyle, David J Salant, Stephen P Berasi, Weining Lu
The repulsive guidance cue SLIT2 and its receptor ROBO2 are required for kidney development and podocyte foot process structure, but the SLIT2/ROBO2 signaling mechanism regulating podocyte function is not known. Here we report that a potentially novel signaling pathway consisting of SLIT/ROBO Rho GTPase activating protein 1 (SRGAP1) and nonmuscle myosin IIA (NMIIA) regulates podocyte adhesion downstream of ROBO2. We found that the myosin II regulatory light chain (MRLC), a subunit of NMIIA, interacts directly with SRGAP1 and forms a complex with ROBO2/SRGAP1/NMIIA in the presence of SLIT2...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27822437/identification-of-mutations-gene-expression-changes-and-fusion-transcripts-by-whole-transcriptome-rnaseq-in-docetaxel-resistant-prostate-cancer-cells
#19
Yuanjun Ma, Yali Miao, Zhuochun Peng, Johanna Sandgren, Teresita Díaz De Ståhl, Mikael Huss, Lena Lennartsson, Yanling Liu, Monica Nistér, Sten Nilsson, Chunde Li
Docetaxel has been the standard first-line therapy in metastatic castration resistant prostate cancer. The survival benefit is, however, limited by either primary or acquired resistance. In this study, Du145 prostate cancer cells were converted to docetaxel-resistant cells Du145-R and Du145-RB by in vitro culturing. Next generation RNAseq was employed to analyze these cell lines. Forty-two genes were identified to have acquired mutations after the resistance development, of which thirty-four were found to have mutations in published sequencing studies using prostate cancer samples from patients...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27686647/cutaneous-nodular-fasciitis-with-genetic-analysis-a-case-series
#20
Erica Kumar, Nimesh R Patel, Elizabeth G Demicco, Judith V M G Bovee, Andre M Olivera, Dolores H Lopez-Terrada, Steven D Billings, Alexander J Lazar, Wei-Lien Wang
Nodular fasciitis is a benign self-limited myofibroblastic neoplasm, which usually involves the upper extremities and trunk of young patients. These tumors have been shown to harbor a translocation involving the MYH9 and USP6 genes, leading to overexpression of the latter. We report seven cases of nodular fasciitis with cutaneous presentations. All cases involved the dermis, with six involving the superficial subcutis, and one auricular tumor extending into cartilage. All cases showed USP6 rearrangement by fluorescence in situ hybridization; in two of three cases, the characteristic MYH9-USP6 fusion was shown by RT-PCR...
December 2016: Journal of Cutaneous Pathology
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