Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Item
http://www.wikidata.org/entity/Q33347101
Altered cytoskeleton organization in platelets from patients with MYH9-related diseaseThe common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotypeGenotype-phenotype correlation in MYH9-related thrombocytopenia.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.Nonmuscle myosin heavy chain IIA is a critical factor contributing to the efficiency of early infection of severe fever with thrombocytopenia syndrome virus.Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopeniaGlomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism?Detection of aneuploidies by paralogous sequence quantification.Modeling complex genetic interactions in a simple eukaryotic genome: actin displays a rich spectrum of complex haploinsufficiencies.Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA.MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.
P2860

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Item
http://www.wikidata.org/entity/Q33347101
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին 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
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@ast
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@en
type
label
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@ast
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@en
prefLabel
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@ast
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Asp1424Asn MYH9 mutation resul ...... lin anomaly/Fechtner syndrome.
@en
P2093
P304
P31
P356
10.1182/BLOOD-2002-09-2783
P407
P433
P478
P50
P577
P5875
P698