ArticlePediatric cardiology2015
Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients.
Article in Pediatric cardiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Left ventricular synchrony, torsion, and recoil mechanics in Ebstein's anomaly: insights from cardiovascular magnetic resonance.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2017Article
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to investigate the possible genetic effect of sequence variations in TWIST1 on the pathogenesis of ventricular septal defect in humans. We examined the coding region of TWIST1 in a cohort of 196 Chinese people with non-syndromic ventricular septal defect patients and 200 healthy individuals as the controls. We identified two novel potential disease-associated mutations, NM_000474.3:c.247G>A (G83S) and NM_000474.3:c.283A>G (S95G). Both of them were identified for the first time and were not observed in the 200 controls without congenital heart disease. Using a dual-luciferase reporter assay, we showed that both of the mutations significantly down-regulated the repressive effect of TWIST1 on the E-cadherin promoter. Furthermore, a mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between TWIST1 and KAT2B. New mutations in the transcription factor TWIST1 that affect protein function were identified in 1.0 % (2/196) of Chinese patients with ventricular septal defect. Our data show, for the first time, that TWIST1 has a potential causative effect on the development of ventricular septal defect.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.