|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness, cataracts, and renal failure.
|
15177565 |
2004 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
MYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear.
|
30807393 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The analysis defined disease evolution associated to seven different MYH9 genotypes that are responsible for 85% of MYH9-RD cases.
|
24186861 |
2014 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations of MYH9, the gene for the heavy chain of myosin-IIA.
|
19572073 |
2009 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Inherited mutations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment DFNA17 as well as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some patients deafness.
|
16630581 |
2006 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is an autosomal dominant disorder deriving from mutations in the MYH9 gene encoding for the heavy chain of non-muscle myosin IIA, and characterized by thrombocytopenia and giant platelets.
|
15869600 |
2005 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this review is to focus on the known, but rarely recognized association of MYH9-related disorders with CKD and highlight the recent discoveries related to the MYH9 gene that may explain the reason for a high CKD burden in African Americans.
|
19726116 |
2009 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to investigate the severity and propensity for progression of SNHL in a large series of MYH9-RD patients in relation to the causative NMMHC-IIA mutations.
|
26226608 |
2016 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To evaluate whether stimulating megakaryopoiesis could increase platelet count in these conditions, we treated patients with a severe thrombocytopenia induced by MYH9 mutations (MYH9-related disease) with a nonpeptide thrombopoietin receptor agonist, eltrombopag.
|
20844233 |
2010 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
|
22477015 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders.
|
22886561 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
MYH9-associated disorders (May-Hegglin anomaly, Epstein and Fechtner syndrome, and others) are inherited in an autosomal dominant manner and characterized by defects in different organs (including eyes, ears, kidneys and thrombocytes).
|
23144074 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.
|
23759689 |
2014 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA).
|
18192507 |
2008 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
|
20002731 |
2010 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in the MYH9 gene previously reported as a known cause of MYH9-related disorders.
|
26446054 |
2016 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Epstein syndrome nephropathy due to a severe MYH9 gene mutation can be refractory and progress rapidly; therefore, early and accurate diagnosis is important for safer therapeutic options including pre-emptive renal transplantation.
|
29532554 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transfection of cells with three MYH9 mutations frequently responsible for MYH9-RD (p.R702C, p.D1424H, or p.R1933X) resulted in a defective SDF-1-driven migration with respect to the wild-type counterpart and in increased cell spreading onto collagen.
|
21833445 |
2011 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we report 10 unrelated patients with MYH9-RD in whom the following seven MYH9 gene mutations were found: W33R, p.Q1443_K1445dup, R702H, D1424N, E1841K, R1933X, and E1945X (the first two were novel mutations).
|
23207509 |
2013 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, mutations in the motor domain of NMMHC-IIA and negative family history were associated with severe renal involvement in patients with MYH9-related disorders.
|
21210153 |
2011 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing.
|
23007341 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
|
11159552 |
2001 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report on recent advances in Wiskott-Aldrich and Bernard-Soulier syndromes, as well as in MYH9-related diseases, a new nosological entity that groups old distinct forms known as May-Hegglin anomaly, Sebastian, Fetchner, and Epstein syndromes.
|
12161364 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.
|
11023810 |
2000 |