ArticleAmerican journal of human genetics2019
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52citing papers in PubMed
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Who cites it
52 citing papers in PubMed, 95 citations in OpenAlex.
- Microtubule-templated actin assembly by septin9 drives apical expansion of epithelial cells.bioRxiv : the preprint server for biology · 2026Article
- Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.The Journal of clinical investigation · 2026Article
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis.BioMed research international · 2026Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- Advection versus diffusion in brain ventricular transport.Fluids and barriers of the CNS · 2025Article
- Centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium.Developmental biology · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility.The Journal of cell biology · 2024Article
- Genome-wide association study indicates novel associations of annexin A13 to secretory and GAS2L2 with mucous otitis media.Scientific reports · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.International journal of molecular sciences · 2024Article
- R-Spondin 2 governs Xenopus left-right body axis formation by establishing an FGF signaling gradient.Nature communications · 2024Article
- Formation and function of multiciliated cells.The Journal of cell biology · 2024Review
- Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Frontiers of medicine · 2023Article
- Article
- Novel centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium.bioRxiv : the preprint server for biology · 2023Article
- Article
- Mucociliary Wnt signaling promotes cilia biogenesis and beating.Nature communications · 2023Article
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 2 countries.
Ximena M Bustamante-MarinCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Wei-Ning YinCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Patrick R SearsCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Michael E WernerBiology Department, University of North Carolina, Chapel Hill, NC 27599, USA.
Eva J BrotslawDepartment of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Brian J MitchellDepartment of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Corey M JaniaDepartment of Medicine, Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Kirby L ZemanCenter for Environmental Medicine, Asthma, and Lung Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
Troy D RogersCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Laura E HerringDepartment of Pharmacology, University of North Carolina, Chapel Hill, NC 27599, USA.
Luc RefabértAssistance Publique-Hôpitaux de Paris, Service de Pneumologie et Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France.
Lucie ThomasSorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.
Serge AmselemSorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.
Estelle EscudierSorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.
Marie LegendreSorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.
Barbara R GrubbCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Michael R KnowlesCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Maimoona A ZariwalaDepartment of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: maimoona_zariwala@med.unc.edu.
Lawrence E OstrowskiCystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: ostro@med.unc.edu.
University of North Carolina at Chapel Hill · USAssistance Publique – Hôpitaux de Paris · FRNorthwestern University · USInserm · FRSorbonne Université · FRUniversité Paris Cité · FR
Funding
Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI David Darr · 1985 to 2026
$201.5MVector CoreP30DK065988 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Martina Gentzsch · 2004 to 2026
$26.5MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MLongitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DAVIS, STEPHANIE DUGGINS, FERKOL, THOMAS W · 2009 to 2023
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MUNC Clinical and Translational Science AwardUL1TR000083 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI RUNGE, MARSCHALL S. · 2012 to 2013
$11.6MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MPathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2MFunctional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to PhenotypeR01HL117836 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OSTROWSKI, LAWRENCE E · 2013 to 2023
$4.4MDevelopmental Dynamics of Ciliated EpitheliaR01GM089970 · NIGMS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MITCHELL, BRIAN JOSEPH · 2010 to 2022
$4.4MNCATS NIH HHS UL1 TR000083NCI NIH HHS P30 CA016086NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS R01 HL071798NHLBI NIH HHS R01 HL117836NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS U54 HL096458NHLBI NIH HHS UC2 HL102926NIDDK NIH HHS P30 DK065988NIGMS NIH HHS R01 GM089970NIH HHS S10 OD018521
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.Val296Glyfs
Indexed as
AnimalsCiliaCiliary Motility DisordersDisease Models, AnimalExonsFemaleGene DeletionGenes, LethalHumansMaleMiceMice, KnockoutMicrofilament ProteinsMicrotubule-Associated ProteinsPhenotypeRotationGAS2L2 protein, humanGas2l2 protein, mousegas2l2 protein, XenopusMicrofilament ProteinsMicrotubule-Associated ProteinsXenopus Proteinsciliary orientationGAS2L2MCCmucociliary clearancePCDprimary ciliary dyskinesia
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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.