ArticleProceedings of the National Academy of Sciences of the United States of America2022
A dominant negative variant of
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
3.3field-weighted citation impact, top 7% 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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
23 citing papers in PubMed, 30 citations in OpenAlex.
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- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.Human molecular genetics · 2026Article
- Convergent hub pathways targeted by IAV, SARS-CoV-2, and RSV in type II alveolar epithelial cells: molecular mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- Sorcin regulates alveolarization and airway tissue remodeling during lung morphogenesis.Cellular and molecular life sciences : CMLS · 2025Article
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.EMBO molecular medicine · 2025Article
- Dominant Form ofAmerican journal of respiratory and critical care medicine · 2025Article
- An RNAi screen of Rab GTPase genes in Caenorhabditis elegans reveals that morphogenesis has a higher demand than stem cell niche maintenance for rab-1 in the somatic cells of the reproductive system.G3 (Bethesda, Md.) · 2025Article
- Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases.Pediatric pulmonology · 2025Observational
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.American journal of human genetics · 2025Article
- Null MutantmicroPublication biology · 2025Article
- Global proteomics reveals pathways of mesenchymal stem cells altered by Mycobacterium tuberculosis.Scientific reports · 2024Article
- Endosomal Trafficking Bypassed by the RAB5B-CD109 Interplay Promotes Axonogenesis in KRAS-Mutant Pancreatic Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.Nature communications · 2024Article
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Clinical and research innovations in childhood interstitial lung disease (chILD).Pediatric pulmonology · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 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
26 authors at 3 institutions in 1 country.
Huiyan HuangDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0003-1239-7191
Jiehong PanDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0003-2384-6845
David R SpielbergDepartment of Pediatrics, Section of Pulmonary Medicine, Baylor College of Medicine, Houston, TX 77030.ORCID 0000-0002-3720-6307
Neil A HanchardDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.ORCID 0000-0003-1460-5169
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.ORCID 0000-0002-5108-8861
Hongzheng DaiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
David MurdockDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.ORCID 0000-0001-5664-7987
Ariz MohammadDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-2807-412X
Tao HuangDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0001-6955-5184
Anika G LindseyDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-4236-9223
Hyori KimDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-2374-8615
Jian ChenDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-2468-1408
Avinash RamuDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0003-3799-809X
Stephanie A MorrisonDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.
Zachary D DawsonDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-3804-1241
Alex Z HuDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-3934-1086
Eric TycksenGenome Technology Access Center, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0001-6362-0141
Gary A SilvermanDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-2686-2843
Dustin BaldridgeDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.ORCID 0000-0002-6027-6020
Jennifer A WambachDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.
Undiagnosed Diseases Network
Stephen C PakDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu.ORCID 0000-0002-8089-3237
Steven L BrodyDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu.ORCID 0000-0002-0905-7527
Tim SchedlDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu.ORCID 0000-0003-2148-2996
Washington University in St. Louis · USBaylor College of Medicine · USJames S. McDonnell Foundation · US
Funding
Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MMolecular Atlas of Lung Development - Data Coordinating CenterU01HL122638 · NHLBI · DUKE UNIVERSITY · PI CLARK, ROBERT F, PALMER, SCOTT M · 2014 to 2018
$7.5MEnhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5MStem cell versus meiotic fate decision in C. elegansR01GM100756 · NIGMS · WASHINGTON UNIVERSITY · PI SCHEDL, TIM · 2012 to 2023
$4.2MFunctional Characterization of ABCA3 Genomic VariantsR01HL149853 · NHLBI · WASHINGTON UNIVERSITY · PI Jennifer Wambach · 2020 to 2026
$3.9M"Lung MAP" Atlas Research CenterU01HL122642 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI POTTER, S. STEVEN, WHITSETT, JEFFREY A · 2014 to 2018
$3.9MWASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITEU01HG010215 · NHGRI · WASHINGTON UNIVERSITY · PI DICKSON, PATRICIA I · 2018 to 2022
$3.4MZebrafish Resource CoreU54NS108251 · NINDS · WASHINGTON UNIVERSITY · PI SCHEDL, TIM, SOLNICAKREZEL, LILIANNA · 2018 to 2022
$2.3MNHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG010215NHLBI NIH HHS R01 HL149853NHLBI NIH HHS U01 HL122638NHLBI NIH HHS U01 HL122642NIGMS NIH HHS R01 GM100756NIH HHS P40 OD010440NINDS NIH HHS U54 NS108251
Abstract
Pathogenic variants in surfactant proteins SP-B and SP-C cause surfactant deficiency and interstitial lung disease. Surfactant proteins are synthesized as precursors (proSP-B, proSP-C), trafficked, and processed via a vesicular-regulated secretion pathway; however, control of vesicular trafficking events is not fully understood. Through the Undiagnosed Diseases Network, we evaluated a child with interstitial lung disease suggestive of surfactant deficiency. Variants in known surfactant dysfunction disorder genes were not found in trio exome sequencing. Instead, a de novo heterozygous variant in
Indexed as
Alveolar Epithelial CellsAnimalsCaenorhabditis elegansGenetic VariationHumansLungLung Diseases, InterstitialProtein PrecursorsPulmonary Surfactant-Associated Protein CPulmonary Surfactant-Associated ProteinsPulmonary Surfactantsrab5 GTP-Binding ProteinsProtein PrecursorsPulmonary Surfactant-Associated Protein CPulmonary Surfactant-Associated ProteinsPulmonary SurfactantsRAB5C protein, humanrab5 GTP-Binding ProteinsSFTPB protein, humanCaenorhabditis elegansendocytosisRAB5Bsurfactant dysfunction disordersurfactant proteins
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.