ArticleAmerican journal of respiratory and critical care medicine2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Erratum issuedOpen access · greenAbstract readMulticenter Study
In one paragraph
Article in American journal of respiratory and critical care medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 28 papers.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
5.0field-weighted citation impact, top 4% 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
28 citing papers in PubMed, 33 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Genetic variants in pulmonary hypertension associated with chronic obstructive pulmonary disease.Current opinion in pulmonary medicine · 2026Review
- Excessive postnatal smooth muscle differentiation in a lung-specific model of TBX4-related pulmonary hypertension.JCI insight · 2026Article
- Sotatercept in TBX4 Associated Heritable Pulmonary Arterial Hypertension: A Case Report of a Super Responder.Pulmonary circulation · 2026Article
- Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders.Human genomics · 2026Article
- Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.Pediatric research · 2026Article
- Reduced TBX5 dosage undermines developmental control of atrial cardiomyocyte identity in a model of human atrial disease.Development (Cambridge, England) · 2026Article
- Complex Genomic Rearrangement Involving theHuman mutation · 2026Article
- Pulmonary arterial hypertension associated with exposure to toxic rapeseed oil.ERJ open research · 2025Article
- Pathophysiology of Pulmonary Arterial Hypertension: Focus on Vascular Endothelium as a Potential Therapeutic Target.International journal of molecular sciences · 2025Review
- TBX4 in Pulmonary Hypertension: Linking Lung Development to Precision Therapy.American journal of respiratory cell and molecular biology · 2025Article
- Loss ofAmerican journal of respiratory cell and molecular biology · 2025Article
- The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.Respiratory research · 2025Article
- Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.Current opinion in pediatrics · 2025Review
- Review
- The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.American journal of medical genetics. Part A · 2025Article
- Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).Pulmonary circulation · 2025Article
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Pathology and pathobiology of pulmonary hypertension: current insights and future directions.The European respiratory journal · 2024Review
- Context-dependent T-BOX transcription factor family: from biology to targeted therapy.Cell communication and signaling : CCS · 2024Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
43 authors at 20 institutions in 9 countries.
Matina PrapaDepartment of Medicine and.ORCID 0000-0002-2717-5463
Mauro Lago-DocampoCINBIO, Universidade de Vigo, Vigo, Spain.ORCID 0000-0002-8799-6079
Emilia M SwietlikDepartment of Medicine and.
David MontaniUniversité Paris-Saclay, AP-HP, Service de Pneumologie, Centre de référence de l'hypertension pulmonaire, INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, France.ORCID 0000-0002-9358-6922
Mélanie EyriesDépartement de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités, Paris, France.
Marc HumbertUniversité Paris-Saclay, AP-HP, Service de Pneumologie, Centre de référence de l'hypertension pulmonaire, INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, France.ORCID 0000-0003-0703-2892
Carrie L WelchDepartment of Pediatrics and.ORCID 0000-0003-3521-4458
Wendy K ChungDepartment of Pediatrics and.ORCID 0000-0003-3438-5685
Rolf M F BergerCentre for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, and.ORCID 0000-0002-4385-5784
Harm Jan BogaardDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands.ORCID 0000-0001-5371-0346
Olivier DanhaiveDivision of Neonatology, St.-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.ORCID 0000-0002-8208-3086
Pilar Escribano-SubíasUnidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain.ORCID 0000-0002-6640-4839
Henning GallCentre for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, and.ORCID 0000-0001-7016-7373
Barbara GirerdUniversité Paris-Saclay, AP-HP, Service de Pneumologie, Centre de référence de l'hypertension pulmonaire, INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, France.
Ignacio Hernandez-GonzalezDepartamento de Cardiología, Hospital Universitario Río Hortega, Valladolid, Spain.
Simon HoldenDepartment of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
David HuntWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Samara M A JansenDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands.ORCID 0000-0003-3493-3573
Wilhelmina Kerstjens-FrederikseDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID 0000-0003-2528-2203
David G KielyDepartment of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain.ORCID 0000-0002-6324-4825
John McDermottManchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.ORCID 0000-0002-5220-8837
Shahin MoledinaGreat Ormond Street Hospital, London, United Kingdom.ORCID 0000-0003-0262-2340
Joanna Pepke-ZabaRoyal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.ORCID 0000-0003-3764-3563
Gary J PolwarthRoyal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.ORCID 0000-0003-0344-3088
Gwen SchotteDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands.
Jair Tenorio-CastañoInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain.ORCID 0000-0002-5308-2316
A A Roger ThompsonDepartment of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.ORCID 0000-0002-0717-4551
John WhartonNational Heart and Lung Institute, Imperial College London, London, United Kingdom.ORCID 0000-0001-8110-2575
Stephen J WortNational Heart and Lung Institute, Imperial College London, London, United Kingdom.
Karyn MegyDepartment of Medicine and.ORCID 0000-0002-2826-3879
Rutendo MapetaDepartment of Medicine and.
Carmen M TreacyDepartment of Medicine and.
Jennifer M MartinDepartment of Medicine and.
Wei LiDepartment of Medicine and.ORCID 0000-0002-1924-3120
Andrew J SwiftDepartment of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.
Paul D UptonDepartment of Medicine and.
Nicholas W MorrellDepartment of Medicine and.ORCID 0000-0001-5700-9792
Stefan GräfDepartment of Medicine and.ORCID 0000-0002-1315-8873
Diana ValverdeCINBIO, Universidade de Vigo, Vigo, Spain.ORCID 0000-0002-7024-1657
NIHR BioResource for Translational Research–Rare Diseaseswww.ipahcohort.com; and.
National Cohort Study of Idiopathic and Heritable PAHwww.pahbiobank.org.
PAH Biobank Enrolling Centers’ Investigatorswww.pahbiobank.org.
Cambridge University Hospitals NHS Foundation Trust · GBInserm · FRVrije Universiteit Amsterdam · NLCambridge School · PTGalicia Sur Biomedical Foundation · ESHospital Universitario La Paz · ESPapworth Hospital · GBPapworth Hospital NHS Foundation Trust · GBRoyal Hallamshire Hospital · GBUniversity Medical Center Groningen · NLUniversity of Cambridge · GBCliniques Universitaires Saint-Luc · BEColumbia University · USColumbia University Irving Medical Center · USGreat Ormond Street Hospital · GBHospital Universitario Río Hortega · ESImperial College London · GBInstituto de Salud Carlos III · ESNational Health Service · GBPrincess Anne Hospital · GB
Funding
British Heart Foundation CH/09/001/25945British Heart Foundation FS/18/13/3328British Heart Foundation FS/18/13/33281British Heart Foundation FS/SBSRF/20/31005British Heart Foundation PG/17/1/32532British Heart Foundation RG/19/3/34265British Heart Foundation SP/18/10/33975Medical Research Council MR/K020919/1Wellcome Trust
Abstract
PubMed holds no abstract for this paper.
Indexed as
Gain of Function MutationLung DiseasesBone Morphogenetic Protein Receptors, Type IIGenotypeHumansMutationPhenotypeT-Box Domain ProteinsBone Morphogenetic Protein Receptors, Type IIT-Box Domain ProteinsTBX4 protein, humangain-of-functioninterstitial lung diseaselung developmental diseasepulmonary arterial hypertensionTBX4
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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 Socratic graph.