ArticleScience immunology2020
PAX1 is essential for development and function of the human thymus.
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Article in Science immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed
10.6field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
61 citing papers in PubMed, 97 citations in OpenAlex.
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Interpreting human genetic variation at atomic resolution.Nature genetics · 2026Review
- Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation.Journal of human immunity · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.Frontiers in immunology · 2026Article
- Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9Journal of human immunity · 2025Article
- Transposable elements as instructors of the immune system.Nature reviews. Immunology · 2025Review
- An iPSC-based in vitro model recapitulates human thymic epithelial development and multi-lineage specification.Nature communications · 2025Article
- The role of PAX1 and JAM3 methylation in predicting the pathological upgrading of cervical intraepithelial neoplasia before conization.Scientific reports · 2025Article
- Search for Ancient Selection Traces in Faverolle Chicken Breed (Animals : an open access journal from MDPI · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Thymus Ontogeny and Development.Advances in experimental medicine and biology · 2025Review
- A Predictive Model Using Six Genes DNA Methylation Markers to Identify Individuals With High Risks of High-Grade Squamous Intraepithelial Lesions and Cervical Cancer.International journal of women's health · 2025Article
- Rediscovering the human thymus through cutting-edge technologies.The Journal of experimental medicine · 2024Review
- Insights into the genetic theory of infectious diseases.La Tunisie medicale · 2024Review
- Promising predictive molecular biomarkers for cervical cancer (Review).International journal of molecular medicine · 2024Review
- Genome-wide association study identifies genomic regions associated with key reproductive traits in Korean Hanwoo cows.BMC genomics · 2024Article
- PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.Cell communication and signaling : CCS · 2024Article
- Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 15 institutions in 5 countries.
Yasuhiro YamazakiLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-0327-1618
Raul UrrutiaHuman and Molecular Genetics Center, Medical College Wisconsin, Milwaukee, MI, USA.ORCID 0000-0002-1640-6780
Luis M FrancoSystemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-0540-5942
Silvia GilianiDepartment of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.ORCID 0000-0001-8137-4642
Kejian ZhangCoyote Bioscience USA Inc., San Jose, CA 95138, USA.ORCID 0000-0001-6334-9697
Anas M AlazamiDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.ORCID 0000-0002-5625-5585
A Kerry DobbsLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-3432-3137
Stefania MasneriDepartment of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Avni JoshiDivision of Pediatric Allergy and Immunology, Mayo Clinic Children's Center, Rochester, MN, USA.
Francisco Otaizo-CarrasqueroGenomic Technologies Section, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-7518-173X
Timothy G MyersGenomic Technologies Section, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-7059-5906
Sundar GanesanResearch Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
Maria Pia BondioniDepartment of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
Mai Lan HoDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-9455-1350
Catherine MarksDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
Huda AlajlanDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Reem W MohammedAlfaisal University, Riyadh, Saudi Arabia.ORCID 0000-0002-5166-438X
Fanggeng ZouDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
C Alexander ValenciaDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Alexandra H FilipovichCancer and Blood Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Fabio FacchettiDepartment of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-5240-3555
Chiara AzzariPediatric Immunology, Department of Health Sciences, University of Florence, Florence, Italy.ORCID 0000-0001-7236-1655
Bander K Al-SaudAlfaisal University, Riyadh, Saudi Arabia.ORCID 0000-0001-9386-9642
Hamoud Al-MousaAlfaisal University, Riyadh, Saudi Arabia.
Jean Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.ORCID 0000-0002-7782-4169
Roshini S AbrahamDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.ORCID 0000-0001-8109-8502
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA. luigi.notarangelo2@nih.gov.ORCID 0000-0002-8335-0262
National Institutes of Health · USCincinnati Children's Hospital Medical Center · USAlfaisal University · SAAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITMayo Clinic in Arizona · USNational Human Genome Research Institute · USUniversity of Brescia · ITHoward Hughes Medical Institute · USInserm · FRKing Abdulaziz City for Science and Technology · SAKing Faisal Specialist Hospital & Research Centre · SAMayo Clinic in Florida · USMedical College of Wisconsin · USMeyer Children's Hospital · ITNationwide Children's Hospital · US
Funding
Infectious Diseases Research Technologies Core - BethesdaZICAI001051 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI CHERRY, JAMES · 2009 to 2025
$226.1MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MZINC FINGER GENES AND PANCREATIC CELL GROWTHR01DK052913 · NIDDK · MEDICAL COLLEGE OF WISCONSIN · PI LOMBERK, GWEN, URRUTIA, RAUL A. · 1998 to 2023
$7.0MIntegrative genomic analysis of the human response to glucocorticoidsZIAAR041213 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI FRANCO, LUIS · 2020 to 2025
$4.8MIntramural NIH HHS ZIA AI001222NIDDK NIH HHS R01 DK052913
Abstract
We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. We identified rare biallelic
Indexed as
Branchio-Oto-Renal SyndromeEpithelial CellsHumansInfantMalePaired Box Transcription FactorsSevere Combined ImmunodeficiencyThymus GlandPaired Box Transcription FactorsPAX1 transcription factor
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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.