scholarly journals Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

2015 ◽  
Vol 36 (10) ◽  
pp. 979-984 ◽  
Author(s):  
Christopher J. Mungall ◽  
Nicole L. Washington ◽  
Jeremy Nguyen-Xuan ◽  
Christopher Condit ◽  
Damian Smedley ◽  
...  
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Model Organism ◽  
Human Disease Gene ◽  
Disease Gene Discovery

scholarly journals Africa: the next frontier for human disease gene discovery?

2011 ◽  
Vol 20 (R2) ◽  
pp. R214-R220 ◽  
Author(s):  
M. Ramsay ◽  
C. T. Tiemessen ◽  
A. Choudhury ◽  
H. Soodyall
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Human Disease Gene ◽  
Disease Gene Discovery

scholarly journals First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

2020 ◽  
Vol 28 (8) ◽  
pp. 1034-1043 ◽  
Author(s):  
Holger Hengel ◽  
Rebecca Buchert ◽  
Marc Sturm ◽  
Tobias B. Haack ◽  
Yvonne Schelling ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Neurological Disorders ◽  
Disease Gene ◽  
Gene Discovery ◽  
First Line ◽  
Disease Gene Discovery ◽  
Israeli Arabs

scholarly journals Disease Modeling and Disease Gene Discovery in Cardiomyopathies: A Molecular Study of Induced Pluripotent Stem Cell Generated Cardiomyocytes

2021 ◽  
Vol 22 (7) ◽  
pp. 3311
Author(s):  
Satish Kumar ◽  
Joanne E. Curran ◽  
Kashish Kumar ◽  
Erica DeLeon ◽  
Ana C. Leandro ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Disease Gene ◽  
Disease Modeling ◽  
Gene Discovery ◽  
Induced Pluripotent Stem Cell ◽  
P Value ◽  
Disease Gene Discovery ◽  
Induced Pluripotent

The in vitro modeling of cardiac development and cardiomyopathies in human induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs) provides opportunities to aid the discovery of genetic, molecular, and developmental changes that are causal to, or influence, cardiomyopathies and related diseases. To better understand the functional and disease modeling potential of iPSC-differentiated CMs and to provide a proof of principle for large, epidemiological-scale disease gene discovery approaches into cardiomyopathies, well-characterized CMs, generated from validated iPSCs of 12 individuals who belong to four sibships, and one of whom reported a major adverse cardiac event (MACE), were analyzed by genome-wide mRNA sequencing. The generated CMs expressed CM-specific genes and were highly concordant in their total expressed transcriptome across the 12 samples (correlation coefficient at 95% CI =0.92 ± 0.02). The functional annotation and enrichment analysis of the 2116 genes that were significantly upregulated in CMs suggest that generated CMs have a transcriptomic and functional profile of immature atrial-like CMs; however, the CMs-upregulated transcriptome also showed high overlap and significant enrichment in primary cardiomyocyte (p-value = 4.36 × 10−9), primary heart tissue (p-value = 1.37 × 10−41) and cardiomyopathy (p-value = 1.13 × 10−21) associated gene sets. Modeling the effect of MACE in the generated CMs-upregulated transcriptome identified gene expression phenotypes consistent with the predisposition of the MACE-affected sibship to arrhythmia, prothrombotic, and atherosclerosis risk.

scholarly journals Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

2010 ◽  
Vol 18 (3) ◽  
pp. 410-424 ◽  
Author(s):  
Veena Singla ◽  
Miriam Romaguera-Ros ◽  
Jose Manuel Garcia-Verdugo ◽  
Jeremy F. Reiter
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Human Disease Gene

Exome sequencing as a tool for Mendelian disease gene discovery

2011 ◽  
Vol 12 (11) ◽  
pp. 745-755 ◽  
Author(s):  
Michael J. Bamshad ◽  
Sarah B. Ng ◽  
Abigail W. Bigham ◽  
Holly K. Tabor ◽  
Mary J. Emond ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Disease Gene ◽  
Gene Discovery ◽  
Mendelian Disease ◽  
Disease Gene Discovery
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