ArticleChest2013
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.
Article in Chest, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Respiratory and other organ manifestations inFrontiers in medicine · 2025Pooled it
- Article
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- Persistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions.ERJ open research · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- It Is Time to Get to Know the Neuroendocrine Cell Hyperplasia of Infancy.The clinical respiratory journal · 2024Review
- Beyond Bronchopulmonary Dysplasia: A Comprehensive Review of Chronic Lung Diseases in Neonates.Cureus · 2024Review
- Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.The Journal of clinical investigation · 2024Article
- Pulmonary neuroendocrine cells: crucial players in respiratory function and airway-nerve communication.Frontiers in neuroscience · 2024Review
- Interstitial Lung Disease in Neonates: A Long Road Is Being Paved.Children (Basel, Switzerland) · 2023Article
- Interstitial Lung Disease in Children: "Specific Conditions of Undefined Etiology" Becoming Clearer.Children (Basel, Switzerland) · 2022Review
- Excess neuropeptides in lung signal through endothelial cells to impair gas exchange.Developmental cell · 2022Article
- Case report: Rare lung disease of infancy diagnosed with the assistance of a home pulse oximetry baby monitor.Frontiers in pediatrics · 2022Article
- Molecular Pathology of Well-Differentiated Pulmonary and Thymic Neuroendocrine Tumors: What Do Pathologists Need to Know?Endocrine pathology · 2021Review
- A Competitive Endogenous RNA Network Based on Differentially Expressed lncRNA in Lipopolysaccharide-Induced Acute Lung Injury in Mice.Frontiers in genetics · 2021Article
- Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease.Disease models & mechanisms · 2020Review
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- The past and future of genetics in pulmonary disease: You can teach an old dog new tricks.Pediatric pulmonology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundNeuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung disease of unknown etiology. We investigated the mechanism for lung disease in a subject whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the subject's extended family and eight other unrelated patients with NEHI were also investigated.
methodsThe proband's lung biopsy specimen (at age 7 months) and serial CT scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had failure to thrive in infancy and chronic respiratory symptoms that improved with age. Genes associated with autosomal-dominant forms of childhood interstitial lung disease were sequenced.
resultsA heterozygous NKX2.1 mutation was identified in the proband and the four other adult family members with histories of childhood lung disease. The mutation results in a nonconservative amino acid substitution in the homeodomain in a codon extensively conserved through evolution. None of these individuals have thyroid disease or movement disorders. NKX2.1 mutations were not identified by sequence analysis in eight other unrelated subjects with NEHI.
conclusionsThe nature of the mutation and its segregation with disease support that it is disease-causing. Previously reported NKX2.1 mutations have been associated with "brain-thyroid-lung" syndrome and a spectrum of more severe pulmonary phenotypes. We conclude that genetic mechanisms may cause NEHI and that NKX2.1 mutations may result in, but are not the predominant cause of, this phenotype. We speculate that altered expression of NKX2.1 target genes other than those in the surfactant system may be responsible for the pulmonary pathophysiology of NEHI.
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.