Property Summary

NCBI Gene PubMed Count 150
PubMed Score 566.01
PubTator Score 429.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.054 1.7e-03

Protein-protein Interaction (1)

Gene RIF (131)

PMID Text
26931254 the frequency of NKX2.5 gene mutations among the patient with Atrial septal defect: in 80% of the affected individuals two polymorphic sites are located at position 487 and 495.
26926761 The crystal structure and binding domains were identified in cardiac NKX2.5.
26898431 Overexpression of Nkx2.5 significantly promotes the differentiation of human umbilical cord drived mesenchymal stem cells into cardiomyocytes.
26823822 the single nucleotide polymorphism rs2277923 of NKX2-5 gene contributes to the risk of sporadic congenital heart disease in Chinese Bai people.
26421664 NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
26418945 This study reveals a novel pathway that directly links ErbB4 and p38gamma to the transcriptional machinery of NKx2.5-GATA4 complex which is critical for cardiomyocyte formation during mammalian heart development.
26297999 The novel DSV (1500G>C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population.
26273787 We describe in this study the mutational and expression analysis of the NKX2.5 gene in nonsyndromic CHD patients
26180509 Our findings demonstrate that somatic NKX2-5 mutations do not represent an important aetiologic pathway in Chinese children with congenital heart disease.
25881702 tRNA suppressors suppress NKX2.5 premature stop codon and induce functional protein expression.
25742962 NKX2-5 is thus responsible for dominant familial ASD even in consanguineous populations, and a wide genetic and phenotypic diversity is characteristic of NKX2-5 mutations in the Lebanese population.
25677450 Nkx2.5 and p53 synergistically activate the promoter of the striated muscle stress responsive transcriptional cofactor Ankrd2, involved in coordination of proliferation and apoptosis during myogenic differentiation.
25524439 Nkx2-5 (and Isl1) regulate the specification of cardiac progenitor cells and acquisition of cardiomyocyte subtype identity.
25524324 Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients.
25503402 The findings expand the mutational spectrum of NKX2-5 linked to DCM and provide novel insight into the molecular mechanisms underlying DCM, contributing to the antenatal prophylaxis and allele-specific management of DCM.
25438918 this study is the first to link an NKX2.5 loss-of-function mutation to enhanced susceptibility to human BAV, providing novel insight into the molecular mechanism of BAV
25187301 The MESP1-NKX2-5 hESC reporter line allows us to identify molecular cues crucial for specification and expansion of human cardiac mesoderm and early progenitors and their differentiation to specific cardiovascular derivatives.
25168381 Results show that NKX2-5 mRNA levels correlate with muscle histopathology in mice and humans and find that NKX2-5 levels modify disease phenotypes in mice with RNA toxicity.
25118008 Exome sequencing demonstrated a frameshift mutation c.397_400del (p.P133GfsTer 42) in NKX2.5 in a patient with heterotaxy.
25050861 Combined expression of NKX2-5, HAND1, and NOTCH1 coordinately contribute to cardiac malformations in Hhypoplastic left heart syndrome.
25017055 Functional analysis showed that the GATA4 mutants were consistently associated with significantly decreased transcriptional activity and markedly reduced the synergistic activation between GATA4 and NKX2-5 in patients with dlated cardiomyopathy.
24987805 highly expressed in racially disparate fashion (Caucasians > African Americans) in a subset of early onset and severe preeclampsia placentae
24880466 The findings of this review strongly suggest a new association of this NKX2-5 mutation with SCD from ventricular arrhythmia.
24817716 The crystallization and X-ray analysis of the NKX2.5 homeodomain shows that it forms a complex with DNA from atrial natriuretic factor.
24782644 The findings expand the spectrum of NKX2-5 mutations linked to AF and provide additional evidence that dysfunctional NKX2-5 may confer vulnerability to AF, suggesting the potential benefit for the early prophylaxis and personalized treatment of AF.
24743694 Art27 interacts with GATA4, FOG2 and NKX2.5 and is a novel co-repressor of cardiac genes.
24681789 Early cardiac marker gene Nkx2.5 levels in peripheral blood mononuclear cells reflect severity in stable coronary artery disease.
24571118 Egyptian T-cell acute lymphoblastic leukemia cases seemed to have a different genetic pattern compared to other populations, with a lower incidence of TLX3/HOX11L2 and SIL/TAL but a higher incidence of NKX2-5 expression than recorded in Western countries
24376681 Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, is associated with human congenital heart disease.
24182332 DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot
24041700 Remarkably reduced synergistic activation between GATA4 and NKX2-5.
23936479 Genetic variants in NKX2-5 are associated with congenital heart disease.
23778487 findings associate the Nkx2.5 loss-of-function mutation with atrial fibrillation and atrioventricular block and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation.
23751912 Data demonstrate that the transcription factors Nkx2-5 and GATA4 cooperatively regulate cardiac-specific expression of Lrrc10.
23661673 NKX2-5 homeodomain mutations show abnormal protein degradation via the Ubiquitin-proteasome system and partially impaired transcriptional activity.
23644027 DNA sequence variants within the upstream enhancer of the NKX2-5 gene may contribute to a small number of ventricular septal defect.s
23525379 this is the first report on the association of the NKX2.5 loss-of-function mutation with increased susceptibility to familial atrial fibrillation.
23285148 NKX2-5 mutations do not play a major pathogenic role in thyroid dysgenesis, and that genetic testing of NKX2-5 in TD is not warranted.
22964646 NKX2.5 mutations are not a common cause of congenital heart disease but the p.R25C variation may increase susceptibility.
22959235 variation of the NKX2.5 gene may not be a risk factor for sporadic patients with congenital heart disease from southern China
22920929 The responsiveness of WP to exercise, the long-term stability of the WP rhythm, and the mild asymptomatic structural features expand the phenotypic presentation of diseases related to mutations in NKX2.5.
22849347 The high resolution crystal structure of NKX2.5 protein provides a detailed picture of protein and DNA interactions, which allows to predict DNA binding of mutants identified in human patients.
22824467 Variants within the cardiac enhancer in the NKX2-5 gene is not associated with ventricular septal defects.
22666732 Absence of mutations in PAX8, NKX2.5, and TSH receptor genes demonstrate the rare genetic etiology in sporadic cases of thyroid dysgenesis.
22647876 Rescue of Nkx2.5 phenotype establishes a model for ensuring electrophysiological function within the adult heart.
22576768 Mutations in the coding region of the NKX2-5 gene and sequence variants within its promoter region may be among the contributors to the CHD etiology.
22560297 Genetic data suggest that a heterozygous missense mutation (P236H) in NKX2-5 is associated with isolated congenital asplenia (ICA).
22306654 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
22179962 Three novel heterozygous missense NKX2-5 mutations, p.Q22K, p.R36S, and p.E54K, are responsible for congenital heart disease in cohort of Chinese patients.
22043484 Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
22011241 In addition to reporting two novel mutations of NKX2-5 in congenital heart defects, we describe families where multiple individual mutations seem to have an additive effect over the pathogenesis.
21931855 Data reveal highly complex regulatory mechanisms driven by SUMOylation to modulate Nkx2-5 activity.
21815254 In the 28 of 32 nonsyndromic patients who underwent molecular testing, no mutation in GATA4 and NKX2.5 genes were detected.
21561848 Mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.
21519287 Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of Tetralogy of Fallot . Findings suggest that the GATA4 and HAND1 germline mutations are associated with non-syndromic congenital heart disease.
21464046 The hematopoietic/erythroid cell fate is suppressed via Nkx2-5 during mesodermal fate determination.
21276881 Study identified NKX2.5 and GATA4 constitutional variants in CHD cohort.
21262546 Novel mutations of NKX2-5 are involved in the etiology of non-syndromic congenital heart disease in Chinese minority groups.
21188375 The investigators found evidence of three novel NKX2-5 mutations and their association with an increased risk of developing amilial atrial septal defects.
21165553 A novel NKX2-5 mutation in familial ventricular septal defect.
21110066 NKX2.5 missense mutations may be associated with congenital heart defects in pediatric Chinese patients.
21091212 The SNPs c.608A>G (p.E203G) and c.852G>A (p.N226D) were present only in congenital heart disease (CHD) patients, indicating their association with CHDs.
20932824 disease-causing mutation in a family with congenital heart disease
20932824 Observational study of gene-disease association. (HuGE Navigator)
20807224 Observational study of gene-disease association. (HuGE Navigator)
20725931 Summarize published NKX2-5 germline mutations and explore different avenues in disease pathogenesis to support the notion of a multifactorial cause of congenital heart disease where possibly several genes and associated pathways are involved. Review.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20606036 The higher methylation of NKX2-5 protein genes in prostate tissue samples from AA in comparison with Cau and may potentially contribute to the racial differences that are observed in prostate cancer pathogenesis.
20561859 no mutations were detected within the coding region of NKX2-5 gene in Wolff-Parkinson-White syndrome patients
20487506 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20456451 two novel mutations in the NKX2.5 gene in a screening of 121 patients with a broad spectrum of cardiac transcription factor
20456451 Observational study of gene-disease association. (HuGE Navigator)
20157192 Observational study of gene-disease association. (HuGE Navigator)
20137692 Novel NKX2-5 mutations were identified in patients with ventricular septal defects.
20062060 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20022124 No mutations in the coding region of NKX2-5 are identified that are associated with atrial fibrillation.
20022124 Observational study of gene-disease association. (HuGE Navigator)
20021795 Observational study of gene-disease association. (HuGE Navigator)
19948535 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19595143 Observational study of gene-disease association. (HuGE Navigator)
19564151 Report forward programming of pluripotent stem cells towards distinct cardiovascular cell types via Nkx2.5 and MesP1 pathways.
19533775 Mutational analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
19479054 This study suggests that NKX2-5 modulates the beta-catenin and GATA4 transcriptional activities in developing human cardiac myocytes.
19464101 mutations of NKX2-5 in peripheral blood DNA were barely detected in patients with stroke and patent foramen ovale
19371212 NKX2.5 mutations are extremely rare in congenital heart disease patients of the Chinese Han nationality.
19371212 Observational study of gene-disease association. (HuGE Navigator)
19302747 The results provided the primary data on congenital heart disease phenotype associated with GATA4 mutation in the Chinese Uygur population.
19302747 Observational study of gene-disease association. (HuGE Navigator)
19217179 Heterozygous mutations in NKX2.5 transcription factor provide evidence for the genetic causes of congenital heart disease.
19181906 Somatic mutations in NKX2-5 do not represent an important aetiologic pathway in pathologic cardiac development in patients with cardiac septal defects.
19181906 Observational study of gene-disease association. (HuGE Navigator)
19073351 The association of NKX2.5 mutations is present in a small percentage of patients with non-syndromic congenital heart defects and may explain only a few cases of the disease
19073351 Observational study of gene-disease association. (HuGE Navigator)
19049681 We have identified a mutation in the NKX2.5 gene responsible for autosomal dominantly inherited atrial septal defect in the oval fossa combined with disturbances of atrioventricular conduction in 7 patients spanning 4 generations.
18997347 IN thks study, the NKX2.5 homeodomain has been crystallized in complex with a specific DNA element, the -242 promoter region of atrial natriuretic factor.
18983250 Translocation of the transcription factors NKX2.5 and GATA4 to the nucleus was observed in all the cultures of mesenchymal stem cells during the differentiation process.
18976153 Clinical analysis revealed distinct hormonal patterns in thyroid hypoplasia when compared with other variants of thyroid dysgenesis, with genetic abnormalities identified only in few cases in the TSH-R, PAX8, and NKX2.5 genes.
18939937 NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
18689573 Nkx2-5 function is critical not only during cardiac development in transgenic mice but also in perinatal hearts, by regulating expression of several important gene products involved in conduction and contraction.
18579533 SUMO1 modification serves as a positive regulator for Nkx2.5 transcriptional activity
18547965 immunohistostaining was positive for Nkx2.5 in 6 of 9 patients with yolk sac tumor (YST), suggesting a certain function of Nkx2.5 in YST
18492690 analysis of transcriptional activation of the cardiac homeobox gene CSX1/NKX2-5 in a B-cell chronic lymphoproliferative disorder [case report]
18219441 Observational study of gene-disease association. (HuGE Navigator)
18084293 Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43.
18079734 NKX2-5 expression in T-ALL cell lines reactivates embryonal pathways contributing to leukemogenesis. MEF2C is activated by NKX2-5 at both the RNA and protein levels.
18076106 Mutations in NKX2.5,are infrequently found in patients with congenital cardiac septal defects
17891520 it is very likely that this novel mutation causes a complete loss of NKX2-5 function and haploinsufficiency is the pathophysiological mechanism underlying the autosomal-dominant inherited congenital heart disease in the family.
17891434 Our results do not provide strong genetic evidence for the pathogenecity of the p.Arg25Cys alteration in the NKX2-5 gene.
17891434 Observational study of gene-disease association. (HuGE Navigator)
17584735 Tbx18 interacts with Gata4 and Nkx2-5 and competes Tbx5-mediated activation of the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 down-regulates Tbx6-activated Delta-like 1 expression in the somitic mesoderm in vivo
17308084 In T-cell acute lymphoblastic leukemia, alternative t(5;14)(q35;q32.2) forms effect dysregulation of either TLX3 or NKX2-5 homeobox genes at 5q35 by juxtaposition with 14q32.2 breakpoints dispersed across the BCL11B downstream genomic desert.
16418214 Nkx2-5(-/-) embryos exhibit thyroid bud hypoplasia, providing evidence that NKX2-5 plays a role in thyroid organogenesis
16138909 NF1 and Nkx2-5 might be involved in heart development and congenital heart disease
16137232 expression of GATA-4 and GATA-6 is up-regulated prior to the transcriptional activation of Nkx 2.5 during cardiogenesis
15917268 mutations of somatic origin in the binding domains of NKX2-5 were associated specifically with atrioventricular or ventricular septal defects and resulted in loss of protein function
15653675 NKX2.5 inhibits myocyte differentiation and myotube formation, and up-regulates Gata4 and Tbx5 expression
15649947 mutation reduced transcription activating function, synergism with partners at the ANF and connexin-40 (Cx40) promoters
15342699 somatic nature of NKX2-5 mutations associated with complex cardiac malformations
15340050 Nkx-2.5 is a novel relevant transcriptional regulator of mammary NIS (sodium/iodide symporter)
15161646 Mutated in cardiac malformations
14607454 NKX2.5 mutations occur in a small percentage of patients with various congenital heart diseases. NKX2.5 mutations in non-homeodomain regions may be important in the development of human structural cardiac defects.
14500364 A novel variant t(5;14) whereby NKX2-5, a related (NK-like family) homeobox gene located approximately 2 Mb telomeric of TLX3, juxtaposes BCL11B in a subset of T-cell ALL cell lines is described.
12858532 effects of gene mutations on ventricular development
12858530 Role in heart development and disease. Review.
12798584 Observational study of gene-disease association. (HuGE Navigator)
12798584 NKX2-5 mutations are a relatively infrequent cause of sporadic ASD (atrial septal defect) and HLHS ( hypoplastic left heart syndrome). Screening for NKX2-5 mutations warranted in individuals with ASD family history, irrespective of AV conduction block.
12775767 Nkx-2.5 and GATA-4 play prime roles in Dio2 gene regulation in the human heart and suggests that it is their synergistic action in humans that causes the differential expression of the cardiac Dio2 gene between humans and rats.
12122109 The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis.
12074273 Novel point mutation is associated with congenital heart disease.
11889119 Csx/Nkx2-5 plays a critical role in maintaining highly differentiated cardiac phenotype and in protecting the heart from stresses

AA Sequence

MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELR      1 - 70
AELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRK     71 - 140
PRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPP    141 - 210
PPPPARRIAVPVLVRDGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSP    211 - 280
AQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHGIRAW                              281 - 324
//

Text Mined References (153)

PMID Year Title
27207958 2016 Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.
26931254 2016 The Aspect of NK2 Transcription Factor Related Locus-5 (NKX2.5) Gene Mutations in Bangladeshi Atrial Septal Defect (ASD) patients and 2D Relationship with their Age.
26926761 2016 Intermolecular Interactions of Cardiac Transcription Factors NKX2.5 and TBX5.
26898431 2016 Overexpressing NKx2.5 increases the differentiation of human umbilical cord drived mesenchymal stem cells into cardiomyocyte-like cells.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823822 2015 Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
26421664 2015 The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
26418945 2016 ErbB4 Activated p38? MAPK Isoform Mediates Early Cardiogenesis Through NKx2.5 in Human Pluripotent Stem Cells.
26297999 2016 Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population.
26273787 2015 Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.
26180509 2015 Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease.
25881702 2015 [Readthrough on transcription factor NKX2.5 premature stop codon by tRNA suppressors].
25742962 2015 NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
25677450 2015 Cardiac transcription factor Nkx2.5 interacts with p53 and modulates its activity.
25524439 2015 Direct nkx2-5 transcriptional repression of isl1 controls cardiomyocyte subtype identity.
25524324 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.
25503402 2015 A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.
25438918 2014 A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve.
25187301 2015 Dual reporter MESP1 mCherry/w-NKX2-5 eGFP/w hESCs enable studying early human cardiac differentiation.
25168381 2015 NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.
25118008 2014 NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
25050861 2014 Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.
25017055 2014 Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy.
24987805 2014 Placental Nkx2-5 and target gene expression in early-onset and severe preeclampsia.
24880466 2014 Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.
24817716 2014 Crystallization and preliminary X-ray analysis of the cardiac transcription factor complex of NKX2.5 and TBX5 with DNA.
24782644 2014 Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.
24743694 2014 Art27 interacts with GATA4, FOG2 and NKX2.5 and is a novel co-repressor of cardiac genes.
24681789 Early cardiac gene transcript levels in peripheral blood mononuclear cells reflect severity in stable coronary artery disease.
24571118 2016 NKX2-5, SIL/TAL and TLX3/HOX11L2 expression in Egyptian pediatric T-cell acute lymphoblastic leukemia.
24376681 2013 Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
24182332 2013 DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot.
24041700 2013 GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy.
23936479 2013 Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.
23778487 2013 Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation.
23751912 2013 Lrrc10 is a novel cardiac-specific target gene of Nkx2-5 and GATA4.
23661673 2013 Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
23644027 2013 Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
23525379 2013 A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation.
23285148 2012 The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.
22964646 2013 R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
22959235 Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.
22920929 2012 Wenckebach periodicity at rest that normalizes with tachycardia in a family with a NKX2.5 mutation.
22849347 2012 Crystal structure of the human NKX2.5 homeodomain in complex with DNA target.
22824467 2012 Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects.
22666732 2012 Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.
22647876 2012 Epistatic rescue of Nkx2.5 adult cardiac conduction disease phenotypes by prospero-related homeobox protein 1 and HDAC3.
22576768 2012 Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects.
22560297 2012 Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.
22306654 2012 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
22179962 2011 Novel NKX2-5 mutations responsible for congenital heart disease.
22043484 2011 Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
22011241 Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.
21931855 2011 Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5.
21815254 2011 Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
21561848 2011 Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.
21519287 2011 Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.
21464046 2011 Nkx2-5 represses Gata1 gene expression and modulates the cellular fate of cardiac progenitors during embryogenesis.
21276881 Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
21262546 2011 Identifying novel mutations of NKX2-5 congenital heart disease patients of Chinese minority groups.
21188375 2011 Novel NKX2-5 mutations in patients with familial atrial septal defects.
21165553 2011 A novel NKX2-5 mutation in familial ventricular septal defect.
21110066 2010 Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
21091212 2010 Single-nucleotide polymorphisms of NKX2.5 found in congenital heart disease patients of Mysore, South India.
20932824 2011 A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
20807224 2011 New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
20725931 2010 NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20606036 2010 Identification of differentially methylated genes in normal prostate tissues from African American and Caucasian men.
20561859 Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
20487506 2010 A whole genome association study of mother-to-child transmission of HIV in Malawi.
20456451 2010 Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
20157192 2010 Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.
20137692 2009 [Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects].
20062060 2010 Genome-wide association study of PR interval.
20022124 2010 Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation.
20021795 2009 [Mutation of NKX2-5 gene in patients with atrial septal defect].
19948535 2010 Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19797053 2009 Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein.
19595143 2009 [Preliminary exploration of transcription factor Nkx2.5 mutations and congenital heart diseases].
19578358 2009 miR-145 and miR-143 regulate smooth muscle cell fate and plasticity.
19564151 2009 Forward programming of pluripotent stem cells towards distinct cardiovascular cell types.
19533775 2009 Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
19479054 2009 NKX2-5 regulates the expression of beta-catenin and GATA4 in ventricular myocytes.
19464101 2009 Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.
19371212 2009 Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases.
19302747 2009 GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease.
19217179 2011 NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?
19181906 2009 Investigation of somatic NKX2-5 mutations in congenital heart disease.
19073351 2010 NKX2.5 mutations in patients with non-syndromic congenital heart disease.
19049681 2009 Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene.
18997347 2008 Crystallization and preliminary X-ray analysis of the NKX2.5 homeodomain in complex with DNA.
18983250 Cardiac differentiation is driven by NKX2.5 and GATA4 nuclear translocation in tissue-specific mesenchymal stem cells.
18976153 2009 Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.
18939937 2008 NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
18689573 2008 Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects.
18579533 2008 Regulation of cardiac specific nkx2.5 gene activity by small ubiquitin-like modifier.
18547965 2008 Establishment and characterization of an ovarian yolk sac tumor cell line reveals possible involvement of Nkx2.5 in tumor development.
18492690 2008 Transcriptional activation of the cardiac homeobox gene CSX1/NKX2-5 in a B-cell chronic lymphoproliferative disorder.
18219441 2008 A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
18084293 2008 RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
18079734 2008 MEF2C is activated by multiple mechanisms in a subset of T-acute lymphoblastic leukemia cell lines.
18076106 2008 Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
17891520 2008 A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.
17891434 2008 The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
17584735 2007 Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors.
17308084 2007 Activation of TLX3 and NKX2-5 in t(5;14)(q35;q32) T-cell acute lymphoblastic leukemia by remote 3'-BCL11B enhancers and coregulation by PU.1 and HMGA1.
16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.
16418214 2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16138909 2005 Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.
16137232 2005 GATA factors lie upstream of Nkx 2.5 in the transcriptional regulatory cascade that effects cardiogenesis.
15917268 2005 Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
15810002 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
15653675 2005 CSX/Nkx2.5 modulates differentiation of skeletal myoblasts and promotes differentiation into neuronal cells in vitro.
15649947 2005 Common arterial trunk associated with a homeodomain mutation of NKX2.6.
15542826 2004 Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15363409 2004 Foxh1 is essential for development of the anterior heart field.
15342699 2004 Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
15340050 2004 Transcription factor Nkx-2.5 induces sodium/iodide symporter gene expression and participates in retinoic acid- and lactation-induced transcription in mammary cells.
15161646 2004 Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
15109497 2004 Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14607454 2003 NKX2.5 mutations in patients with congenital heart disease.
14500364 2003 The cardiac homeobox gene NKX2-5 is deregulated by juxtaposition with BCL11B in pediatric T-ALL cell lines via a novel t(5;14)(q35.1;q32.2).
12858532 2002 Molecular mechanisms of ventricular hypoplasia.
12858530 2002 Homeodomain factor Nkx2-5 in heart development and disease.
12798584 2003 Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
12775767 2003 The different cardiac expression of the type 2 iodothyronine deiodinase gene between human and rat is related to the differential response of the Dio2 genes to Nkx-2.5 and GATA-4 transcription factors.
12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12414819 2002 Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
12122109 2002 The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis.
12074273 2002 Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.
12023302 2002 Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation.
11889119 2002 Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart.
11714651 2001 NKX2.5 mutations in patients with tetralogy of fallot.
11431700 2001 Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.
10948187 2000 Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease.
10903346 2000 Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.
10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
10206974 1999 Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site.
9858576 1999 Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5.
9748262 1998 Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors.
9651244 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.
9312027 1997 The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors.
8900537 1996 Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.
8887666 1996 Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.
7665173 1995 Assignment of cardiac homeobox gene CSX to human chromosome 5q34.