MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
about
Altered cytoskeleton organization in platelets from patients with MYH9-related diseaseA 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 diseaseIRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression during phorbol ester-induced promyelocytic HL-60 differentiationThe 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 dataMyosinIIa contractility is required for maintenance of platelet structure during spreading on collagen and contributes to thrombus stability.Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.First description of somatic mosaicism in MYH9 disorders.Genotype-phenotype correlation in MYH9-related thrombocytopenia.Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.Renal manifestations of patients with MYH9-related disorders.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.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 macrothrombocytopeniaMYH9 nephropathy.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).Conditional deletion of nonmuscle myosin II-A in mouse tongue epithelium results in squamous cell carcinoma
P2860
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P2860
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@ast
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@en
type
label
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@ast
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@en
prefLabel
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@ast
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@en
P2093
P50
P1433
P1476
MYH9-related disease: May-Hegg ...... xpression of a single illness.
@en
P2093
Achille Iolascon
Alessandra Nigro
Bianca Rocca
Carlo L Balduini
Carmine Pecoraro
Filomena Di Bari
Ilaria Longo
Juan Rodriguez Soriano
Maria Savino
Paola Malatesta
P304
P356
10.1097/00005792-200305000-00006
P407
P50
P577
2003-05-01T00:00:00Z