Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
Kalayinia S et al.
Journal of Cardiovascular and Thoracic Research, 2019
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung IM et al.
Genes, 2016
A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.
Abdul Samad F et al.
Plos One, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Somatic mutations in cardiac malformations.
Reamon-Buettner SM et al.
Journal of Medical Genetics, 2006
Bridging the gap between anatomy and molecular genetics for an improved understanding of congenital heart disease.
Reamon-Buettner SM et al.
Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft, 2006
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
Inga A et al.
Human Molecular Genetics, 2005
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Reamon-Buettner SM et al.
Journal of Medical Genetics, 2004
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
Reamon-Buettner SM et al.
The American Journal of Pathology, 2004
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