A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
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| Title: | A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. |
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| Authors: | Li Q; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Dibus M; Department of Cell Biology, Charles University in Prague, Viničná 7, Prague, Czech Republic.; Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Průmyslová 595, Vestec u Prahy, Czech Republic., Casey A; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Yee CSK; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Vargas SO; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Luo S; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Rosen SM; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Brabek J; Department of Cell Biology, Charles University in Prague, Viničná 7, Prague, Czech Republic.; Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Průmyslová 595, Vestec u Prahy, Czech Republic., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Kazerounian S; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Raby BA; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Schmitz-Abe K; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Kennedy JC; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Fishman MP; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Mullen MP; Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America., Taylor JM; Dept. Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, United States of America., Rosel D; Department of Cell Biology, Charles University in Prague, Viničná 7, Prague, Czech Republic.; Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Průmyslová 595, Vestec u Prahy, Czech Republic., Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America. |
| Source: | PLoS genetics [PLoS Genet] 2021 Jul 07; Vol. 17 (7), pp. e1009639. Date of Electronic Publication: 2021 Jul 07 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1553-7404 |
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| DOI: | 10.1371/journal.pgen.1009639 |
