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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.
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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  Data: A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
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  Data: <searchLink fieldCode="AU" term="%22Li+Q%22">Li Q</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dibus+M%22">Dibus M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Casey+A%22">Casey A</searchLink>; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Yee+CSK%22">Yee CSK</searchLink>; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Vargas+SO%22">Vargas SO</searchLink>; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Luo+S%22">Luo S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rosen+SM%22">Rosen SM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Madden+JA%22">Madden JA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brabek+J%22">Brabek J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brownstein+CA%22">Brownstein CA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kazerounian+S%22">Kazerounian S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Raby+BA%22">Raby BA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schmitz-Abe+K%22">Schmitz-Abe K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kennedy+JC%22">Kennedy JC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fishman+MP%22">Fishman MP</searchLink>; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Mullen+MP%22">Mullen MP</searchLink>; Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Taylor+JM%22">Taylor JM</searchLink>; Dept. Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, United States of America.<br /><searchLink fieldCode="AU" term="%22Rosel+D%22">Rosel D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2021 Jul 07; Vol. 17 (7), pp. e1009639. <i>Date of Electronic Publication: </i>2021 Jul 07 (<i>Print Publication: </i>2021).
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