ArticleCell reports. Medicine2022
Genetic resiliency associated with dominant lethal
Open access · greenAbstract read
In one paragraph
Article in Cell reports. Medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 43% of its field
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
5 citing papers in PubMed, 5 citations in OpenAlex.
- The Evolutionarily Conserved TPM1 Super-Enhancer Drives Skeletal Muscle Regeneration via Mechanotransduction Signaling.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Sex-specific response to A1BG loss results in female dilated cardiomyopathy.Biology of sex differences · 2025Article
- High-fat stimulation induces atrial structural remodeling via the TPM1/P53/SHISA5 Axis.Lipids in health and disease · 2025Article
- Genetic and Environmental Contributors To Congenital Heart Disease.Current treatment options in cardiovascular medicine · 2025Review
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 13 institutions in 4 countries.
Polakit TeekakirikulDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Wenjuan ZhuCentre for Cardiovascular Genomics & Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Xinxiu XuDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Cullen B YoungDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Tuantuan TanDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Amanda M SmithDepartment of Pediatrics and Department of Medical and Molecular Genetics, and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN, USA.
Chengdong WangSchool of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
Kevin A PetersonThe Jackson Laboratory, Bar Harbor, ME, USA.
George C GabrielDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Sebastian HoDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Yi ShengMagee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Anne Moreau de BellaingDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Daniel A SonnenbergDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Jiuann-Huey LinDepartment of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Elisavet FotiouDivision of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Gennadiy TeninDivision of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Michael X WangDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Yijen L WuDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Timothy FeinsteinDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
William DevineDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Honglan GouBGI Genomics, Shenzhen, China.
Abha S BaisDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Benjamin J GlennonDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Maliha ZahidDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Timothy C WongUPMC Heart and Vascular Institute and Division of Cardiology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Ferhaan AhmadDivision of Cardiovascular Medicine, Department of Internal Medicine, The University of Iowa, Iowa City, IA, USA.
Michael J RynkiewiczDepartment of Physiology & Biophysics, Boston University School of Medicine, Boston, MA, USA.
William J LehmanDepartment of Physiology & Biophysics, Boston University School of Medicine, Boston, MA, USA.
Bernard KeavneyDivision of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Tero-Pekka AlastaloBlueprint Genetics, San Francisco, CA, USA.
Mary-Louise FreckmannDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.
Kyle OrwigMagee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Steve MurrayThe Jackson Laboratory, Bar Harbor, ME, USA.
Stephanie M WareDepartment of Pediatrics and Department of Medical and Molecular Genetics, and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN, USA.
Hui ZhaoSchool of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
Brian FeingoldHeart Institute and Division of Pediatric Cardiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Cecilia W LoDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
University of Pittsburgh · USChinese University of Hong Kong · CNUniversity of Manchester · GBBoston University · USJackson Laboratory · USBGI Group (China) · CNBlueprint Medicines (United States) · USChildren's Hospital of Pittsburgh · USIndiana University – Purdue University Indianapolis · USIndiana University School of MedicineMagee-Womens Research Institute · USRoyal North Shore Hospital · AUUniversity of Iowa · US
Funding
THIN FILAMENTS AND VERTEBRATE SMOOTH MUSCLE CONTRACTIONR01HL036153 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI William J Lehman · 1986 to 2026
$6.5MCellular Approaches to Tissue Engineering/RegenerationT32EB001026 · NIBIB · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUNCAN, ANDREW W, MONGA, SATDARSHAN SINGH · 2003 to 2024
$5.5MModeling the complex genetics of congenital heart disease in miceR01HL132024 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LO, CECILIA W. · 2016 to 2019
$3.4MMechanism of LV Hypoplasia in Hypoplastic Left Heart Syndrome SupplementR01HL142788 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LO, CECILIA W., TSANG, MICHAEL WAIKOK · 2018 to 2021
$3.3MBrain Abnormalities and Neurobehavioral Deficits in Hypoplastic Left Heart SyndromeF30HD097967 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GABRIEL, GEORGE CHRISTOPHER · 2019 to 2023
$238kBritish Heart Foundation CH/13/2/30154British Heart Foundation RG/15/12/31616British Heart Foundation RG/F/21/110050NHLBI NIH HHS R01 HL036153NHLBI NIH HHS R01 HL132024NHLBI NIH HHS R01 HL142788NIBIB NIH HHS T32 EB001026NICHD NIH HHS F30 HD097967
Abstract
Analysis of large-scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here, we report the unexpected recovery of a rare dominant lethal mutation in
Indexed as
Heart Septal Defects, AtrialAnimalsHumansMiceMicrofilament ProteinsMutationMyofibrilsPedigreeTalinTropomyosinMicrofilament ProteinsTalinTLN2 protein, mouseTPM1 protein, humanTpm1 protein, mouseTropomyosinASDatrial septal defectCRISPR gene editingembryonic lethalitygenetic resiliencyinduced pluripotent stem cellprotective variantTLN2TPM1
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
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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.