ArticleHuman mutation2014
Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Review
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- Identification of Selection Signatures and Candidate Genes Related to Environmental Adaptation and Economic Traits in Tibetan Pigs.Animals : an open access journal from MDPI · 2024Article
- Translocations and Gene Fusions in Sinonasal Malignancies.Current oncology reports · 2023Review
- Neurotrophins in the Neuropathophysiology, Course, and Complications of Obstructive Sleep Apnea-A Narrative Review.International journal of molecular sciences · 2023Review
- Role of Glycans on Key Cell Surface Receptors That Regulate Cell Proliferation and Cell Death.Cells · 2021Review
- Transcriptional characterisation of human lung cells identifies novel mesenchymal lineage markers.The European respiratory journal · 2020Article
- Arsenic trioxide induces cell cycle arrest and affects Trk receptor expression in human neuroblastoma SK-N-SH cells.Biological research · 2018Article
- Transcriptomic alterations in the heart of non-obese type 2 diabetic Goto-Kakizaki rats.Cardiovascular diabetology · 2016Article
- A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.G3 (Bethesda, Md.) · 2016Article
- A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Pediatric cardiology · 2015Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital heart defects (CHDs) are the most common major birth defects and the leading cause of death from congenital malformations. The etiology remains largely unknown, though genetic variants clearly contribute. In a previous study, we identified a large copy-number variant (CNV) that deleted 46 genes in a patient with a malalignment type ventricular septal defect (VSD). The CNV included the gene NTRK3 encoding neurotrophic tyrosine kinase receptor C (TrkC), which is essential for normal cardiogenesis in animal models. To evaluate the role of NTRK3 in human CHDs, we studied 467 patients with related heart defects for NTRK3 mutations. We identified four missense mutations in four patients with VSDs that were not found in ethnically matched controls and were predicted to be functionally deleterious. Functional analysis using neuroblastoma cell lines expressing mutant TrkC demonstrated that one of the mutations (c.278C>T, p.T93M) significantly reduced autophosphorylation of TrkC in response to ligand binding, subsequently decreasing phosphorylation of downstream target proteins. In addition, compared with wild type, three of the four cell lines expressing mutant TrkC showed altered cell growth in low-serum conditions without supplemental neurotrophin 3. These findings suggest a novel pathophysiological mechanism involving NTRK3 in the development of VSDs.
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