ArticleThe Journal of pediatrics2019
Neonatal Lung Disease Associated with TBX4 Mutations.
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Article in The Journal of pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
6.4field-weighted citation impact, top 3% of its field
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Who cites it
32 citing papers in PubMed, 68 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.Clinics in perinatology · 2026Review
- Multifaceted role of T-box transcription factor 4: From embryonic development to disease pathogenesis.Genes & diseases · 2026Review
- Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.Pediatric research · 2026Article
- Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.Clinical genetics · 2026Article
- Article
- The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.American journal of medical genetics. Part A · 2025Article
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes.Pulmonary circulation · 2025Article
- Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.Italian journal of pediatrics · 2024Review
- A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.Clinical genetics · 2024Article
- Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects.Journal of cardiovascular development and disease · 2023Review
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- The role of exome sequencing in childhood interstitial or diffuse lung disease.Orphanet journal of rare diseases · 2022Article
- Pulmonary hypertension in the newborn- etiology and pathogenesis.Seminars in fetal & neonatal medicine · 2022Review
- Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant.Pulmonary circulation · 2022Article
- Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.American journal of medical genetics. Part A · 2022Article
- Identification and Functional Evaluation of a NovelInternational journal of molecular sciences · 2022Article
- Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.Respiratory research · 2021Article
- Genetic Testing for Neonatal Respiratory Disease.Children (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Kristen SuhriePerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
Nathan M PajorDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Shawn K AhlfeldPerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
D Brian DawsonDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH.
Kevin R DufendachPerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH.
Joseph A KitzmillerPerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Daniel LeinoDepartment of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Rachel C LombardoDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Teresa A SmolarekDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Pamela A RathbunDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Jeffrey A WhitsettPerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
Christopher ToweDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Kathryn A Wikenheiser-BrokampPerinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address: kathryn.wikenheiser-brokamp@cchmc.org.
Cincinnati Children's Hospital Medical Center · US
Funding
Editing Alveolar Progenitor Cells for Correction of Monogenic DiseaseU01HL134745 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI KOTTON, DARRELL N., MORRISEY, EDWARD E · 2016 to 2022
$8.3MLungMap Phase II - Building a multidimensional map of developing human lungU01HL148856 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI WHITSETT, JEFFREY A, XU, YAN · 2019 to 2023
$4.5M"Lung MAP" Atlas Research CenterU01HL122642 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI POTTER, S. STEVEN, WHITSETT, JEFFREY A · 2014 to 2018
$3.9MNHLBI NIH HHS U01 HL122642NHLBI NIH HHS U01 HL134745NHLBI NIH HHS U01 HL148856
Abstract
Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.
Indexed as
FemaleHumansInfant, NewbornMaleMutationRespiratory InsufficiencyT-Box Domain ProteinsT-Box Domain ProteinsTBX4 protein, humanABCA3congenital alveolar dysplasiacongenital anomalylung developmentpulmonary hypoplasiaT-box transcription factorTBX2TBX4
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Read underepoch 390
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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.