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J Cardiovasc Thorac Res. 2019;11(4): 287-299. doi: 10.15171/jcvtr.2019.47
PMID: 31824610        PMCID: PMC6891041

Original Article

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

Samira Kalayinia 1, Serwa Ghasemi 2, Nejat Mahdieh 1 * ORCID

Cited by CrossRef: 8

1- Janin A, Januel L, Cazeneuve C, Delinière A, Chevalier P, Millat G. Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years. Mol Diagn Ther. 2021;25(3):373 [Crossref]
2- Hao L, Ma J, Wu F, Ma X, Qian M, Sheng W, Yan T, Tang N, Jiang X, Zhang B, Xiao D, Qian Y, Zhang J, Jiang N, Zhou W, Chen W, Ma D, Huang G. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clinical & Translational Med. 2022;12(7) [Crossref]
3- Zubaidi A, Al-Shamsi A. A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review. J Pediatr Genet. 2024;13(04):308 [Crossref]
4- EL Bouchikhi I, Belhassan K, Moufid F, Bouguenouch L, Samri I, Iraqui Houssaïni M, Ouldim K, Atmani S. Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype. Egypt J Med Hum Genet. 2021;22(1) [Crossref]
5- Lei X, Zhao J, Sagendorf J, Rajashekar N, Xu J, Dantas Machado A, Sen C, Rohs R, Feng P, Chen L. Crystal Structures of Ternary Complexes of MEF2 and NKX2–5 Bound to DNA Reveal a Disease Related Protein–Protein Interaction Interface. Journal of Molecular Biology. 2020;432(19):5499 [Crossref]
6- Chen H, Li T, Wu Y, Wang X, Wang M, Wang X, Fang X. Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis. 2022;17(1):473 [Crossref]
7- El-Medany A, Aziz S, Duncan E. NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?. BMJ Case Rep. 2023;16(1):e252523 [Crossref]
8- Cervantes-Salazar J, Pérez-Hernández N, Calderón-Colmenero J, Rodríguez-Pérez J, González-Pacheco M, Villamil-Castañeda C, Rosas-Tlaque A, Ortega-Zhindón D. Genetic Insights into Congenital Cardiac Septal Defects—A Narrative Review. Biology. 2024;13(11):911 [Crossref]
9- Morlanes-Gracia P, Antoniutti G, Alvarez-Rubio J, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death. Front Cardiovasc Med. 2021;8 [Crossref]