|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
BEFREE |
Since then, the discovery of over a dozen missense, frameshift, and splicing mutations that are linked to various forms of cardiomyopathy, including HCM, dilated cardiomyopathy (DCM), and left ventricular non-compaction (LVNC), has highlighted OBSCN as a potential disease-causing gene.
|
30099631 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.
|
26573135 |
2015 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
BEFREE |
These observations suggest that the obscurin abnormality may be involved in the pathogenesis of HCM.
|
17716621 |
2007 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
LHGDN |
Structural analysis of obscurin gene in hypertrophic cardiomyopathy.
|
17716621 |
2007 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Structural analysis of obscurin gene in hypertrophic cardiomyopathy.
|
17716621 |
2007 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing.
|
16205939 |
2006 |
|
Hypertrophic Cardiomyopathy
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly.
|
11448995 |
2001 |
|
Colorectal Carcinoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Recently, analysis of 13,023 genes in breast and colorectal cancers identified OBSCN as one of the most frequently mutated genes, implicating it in cancer formation.
|
22441987 |
2012 |
|
Colorectal Carcinoma
|
0.310 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
|
Electrocardiogram: P-R interval
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
|
30046033 |
2018 |
|
Short stature
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Cardiomyopathy, Familial Idiopathic
|
0.030 |
Biomarker
|
disease |
BEFREE |
Since then, the discovery of over a dozen missense, frameshift, and splicing mutations that are linked to various forms of cardiomyopathy, including HCM, dilated cardiomyopathy (DCM), and left ventricular non-compaction (LVNC), has highlighted OBSCN as a potential disease-causing gene.
|
30099631 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency.
|
26406308 |
2015 |
|
Cardiomyopathy, Familial Idiopathic
|
0.030 |
Biomarker
|
disease |
BEFREE |
The titin-binding protein obscurin also underwent isoform-shifting in DCM.
|
15345656 |
2004 |
|
Cardiomyopathy, Dilated
|
0.020 |
Biomarker
|
group |
BEFREE |
Since then, the discovery of over a dozen missense, frameshift, and splicing mutations that are linked to various forms of cardiomyopathy, including HCM, dilated cardiomyopathy (DCM), and left ventricular non-compaction (LVNC), has highlighted OBSCN as a potential disease-causing gene.
|
30099631 |
2019 |
|
Heart Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Herein, we describe the OBSCN mutations known to date, discuss their potential impact on disease development, and provide future directions in order to better understand the involvement of obscurins in heart disease.
|
30099631 |
2019 |
|
Heart Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Deregulated Ca<sup>2+</sup> cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.
|
28630914 |
2017 |
|
Cardiomyopathy, Dilated
|
0.020 |
GeneticVariation
|
group |
BEFREE |
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
|
26406308 |
2015 |
|
Sarcoidosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our in-depth focus on 10 of these 37 genes may suggest that the formation of the characteristic lesion in sarcoidosis, granuloma, results from combined deficits in autophagy and intracellular trafficking (ex: Sec16A, AP5B1 and RREB1), G-proteins regulation (ex: OBSCN, CTTND2 and DNAH11), T-cell activation (ex: IDO2, IGSF3), mitosis and/or immune synapse (ex: SPICE1 and KNL1).
|
29510755 |
2018 |
|
Cardiac Arrhythmia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Deregulated Ca<sup>2+</sup> cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.
|
28630914 |
2017 |
|
Myopathy
|
0.010 |
Biomarker
|
group |
BEFREE |
The potential of obscurin as a therapeutic target in muscle disorders.
|
28756711 |
2017 |
|
Muscular Dystrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family.
|
29073160 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, we detected three variants in OBSCN gene in ARVC patients, four variants in ANK2 gene and two variants in DLG1, TRPM4, and AKAP9 genes in DCM patients, two variants in PSEN2 gene and four variants in AKAP9 gene in HCM patients.
|
28750076 |
2017 |