ArticlePloS one2012
Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- Zebrafish Congenital Heart Disease Models: Opportunities and Challenges.International journal of molecular sciences · 2024Review
- Human Genetics of Tricuspid Atresia and Univentricular Heart.Advances in experimental medicine and biology · 2024Article
- Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart.Advances in experimental medicine and biology · 2024Review
- Quantitative proteomic profiling identifies global protein network dynamics in murine embryonic heart development.Developmental cell · 2023Article
- Delving into the Molecular World of Single Ventricle Congenital Heart Disease.Current cardiology reports · 2022Review
- Tissue engineering: Relevance to neonatal congenital heart disease.Seminars in fetal & neonatal medicine · 2022Review
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
- Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.Molecular genetics & genomic medicine · 2021Article
- The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot.Journal of cardiovascular development and disease · 2020Article
- A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.Cell journal · 2019Article
- Absence of a secondary glucocorticoid response in C57BL/6J mice treated with topical dexamethasone.PloS one · 2018Article
- A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.Scientific reports · 2017Article
- A Novel Mutation inFrontiers in cardiovascular medicine · 2017Article
- Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.BMC genetics · 2015Article
- A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Journal of community genetics · 2015Article
- Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.BMC genomics · 2014Article
- Heart failure in congenital heart disease: a confluence of acquired and congenital.Heart failure clinics · 2014Review
- Nfatc1 directs the endocardial progenitor cells to make heart valve primordium.Trends in cardiovascular medicine · 2013Review
- A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA.AACE clinical case reportsArticle
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1(-/-) mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.
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