Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
A combined genomic arrhythmia propensity score delineates cumulative risk.
Monroe TO et al.
Cell Reports. Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 2023
NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.
Szczepanek-Parulska E et al.
International Journal of Molecular Sciences, 2022
Transcription factor protein interactomes reveal genetic determinants in heart disease.
Gonzalez-Teran B et al.
Cell, 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
Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.
Guo H et al.
Trends in Genetics : Tig, 2021
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Alcántara-Ortigoza MA et al.
Children (basel, Switzerland), 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Oligogenic inheritance of a human heart disease involving a genetic modifier.
Gifford CA et al.
Science (new York, N.y.), 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
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
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.
Khatami M et al.
Medicina (kaunas, Lithuania), 2018
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.
Girdauskas E et al.
Plos One, 2018
Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy.
Xu JH et al.
International Heart Journal, 2017
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Girdauskas E et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 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
Disorders of thyroid morphogenesis.
Abu-Khudir R et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
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
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK et al.
Scientific Reports, 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
Genetics of normal and abnormal thyroid development in humans.
Szinnai G
Best Practice & Research. Clinical Endocrinology & Metabolism, 2014
Clinical genetics of congenital hypothyroidism.
Szinnai G
Endocrine Development, 2014
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
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
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.
van Engelen K et al.
Plos One, 2012
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
Dentice M et al.
The Journal of Clinical Endocrinology and Metabolism, 2006