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A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French familyNonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Mendelian and trans-generational inheritance in hypertensive renal diseaseCrystal structure of the rigor-like human non-muscle myosin-2 motor domainThe E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammalsSevere to profound deafness may be associated with MYH9-related disease: report of 4 patientsMyosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse.Nonmuscle myosin II exerts tension but does not translocate actin in vertebrate cytokinesis.Identification of gene fusions from human lung cancer mass spectrometry dataThe molecular basis of congenital thrombocytopenias: insights into megakaryopoiesis.Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.May-Hegglin anomaly in a dog.Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicityAlteration of liver enzymes is a feature of the MYH9-related disease syndrome.Inherited thrombocytopenias: an approach to diagnosis and management.[Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.Cochlear implantation is safe and effective in patients with MYH9-related disease.Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopeniaPreoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.MYH9 nephropathy.Congenital macrothrombocytopenia is a heterogeneous disorder in India.Epidural anesthesia for labor and delivery in a patient with May-Hegglin anomaly: a case report.Identification of a putative network of actin-associated cytoskeletal proteins in glomerular podocytes defined by co-purified mRNAsMicroRNA let-7f inhibits tumor invasion and metastasis by targeting MYH9 in human gastric cancer.A point mutation in Myh10 causes major defects in heart development and body wall closureMutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.Essential hypertension and risk of nephropathy: a reappraisal.The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataractAPOL1 null alleles from a rural village in India do not correlate with glomerulosclerosis.Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairmentGenetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexinsMYH9 genetic variants associated with glomerular disease: what is the role for genetic testing?Proteomics analysis of the non-muscle myosin heavy chain IIa-enriched actin-myosin complex reveals multiple functions within the podocyte.The role of molecular genetics in diagnosing familial hematuria(s).
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P2860
description
im Mai 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 2003
@uk
name
MYH9-Related Disease
@en
MYH9-Related Disease
@nl
type
label
MYH9-Related Disease
@en
MYH9-Related Disease
@nl
prefLabel
MYH9-Related Disease
@en
MYH9-Related Disease
@nl
P2093
P1433
P1476
MYH9-Related Disease
@en
P2093
Achille Iolascon
Alessandra Nigro
Alessandra Renieri
Alessandro Pecci
Anna Savoia
Bianca Rocca
Carlo L. Balduini
Carmine Pecoraro
Emanuele Panza
Filomena Di Bari
P304
P356
10.1097/01.MD.0000076006.64510.5C
P407
P577
2003-05-01T00:00:00Z