Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study.
Liu C et al.
Cardiology, 2025
Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.
Grueso Cerón AL et al.
Heliyon, 2024
Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.
Cao C et al.
Frontiers in Cardiovascular Medicine, 2023
NKX2-5 variants screening in patients with atrial septal defect in Indonesia.
Rozqie R et al.
Bmc Medical Genomics, 2022
NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.
Szczepanek-Parulska E et al.
International Journal of Molecular Sciences, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis.
Chen H et al.
Open Life Sciences, 2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.
Dixit R et al.
American Journal of Medical Genetics. Part A, 2021
The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.
Ashiq S et al.
The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2021
Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients.
Aidinidou L et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.
Gaither JBS et al.
Gigascience, 2021
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
Association of Maternal Diabetes Mellitus and Polymorphisms of the NKX2.5 Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study.
Zhao M et al.
Journal of Diabetes Research, 2020
High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.
Nettore IC et al.
Journal of Endocrinological Investigation, 2018
[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].
Chen LT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism.
Khatami M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
[NKX2.5 and TBX5 gene mutations in in vitro fertilization children with congenital heart disease].
Yang JH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Exome sequencing reveals novel IRXI mutation in congenital heart disease.
Guo C et al.
Molecular Medicine Reports, 2017
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.
El Bouchikhi I et al.
Anatolian Journal of Cardiology, 2017
Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.
Borkar Y et al.
Journal of Clinical and Diagnostic Research : Jcdr, 2017
Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.
Xie X et al.
Pediatric Cardiology, 2016
A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y et al.
Scientific Reports, 2016
Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population.
Cao Y et al.
Gene, 2016
Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot.
Kheirollahi M et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2016
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
Cerqueira TL et al.
Archives of Endocrinology and Metabolism, 2015
Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.
Ketharnathan S et al.
Genetic Testing and Molecular Biomarkers, 2015
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Alcántara-Ortigoza MA et al.
Pediatric Cardiology, 2015
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.
Yuan F et al.
International Journal of Molecular Medicine, 2015
Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease.
Zheng J et al.
International Journal of Medical Sciences, 2015
Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.
Yu H et al.
International Journal of Medical Sciences, 2014
Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.
Sabina S et al.
Journal of Molecular and Cellular Cardiology, 2013
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
Costa MW et al.
Circulation. Cardiovascular Genetics, 2013
Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation.
Xie WH et al.
Clinics (sao Paulo, Brazil), 2013
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation.
Huang RT et al.
International Journal of Molecular Medicine, 2013
Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.
Wang Z et al.
Plos One, 2013
Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
Reamon-Buettner SM et al.
Plos One, 2013
Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects.
Pang S et al.
Pediatric Cardiology, 2012
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
De Luca A et al.
Clinical Genetics, 2011
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.
Wang J et al.
Pathology, 2011
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
Ouyang P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011