A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, s...
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
About this item
Full title
Author / Creator
Li, Qifei , Dibus, Michal , Casey, Alicia , Yee, Christina S. K. , Vargas, Sara O. , Luo, Shiyu , Rosen, Samantha M. , Madden, Jill A. , Genetti, Casie A. , Brabek, Jan , Brownstein, Catherine A. , Kazerounian, Shideh , Raby, Benjamin A. , Schmitz-Abe, Klaus , Kennedy, John C. , Fishman, Martha P. , Mullen, Mary P. , Taylor, Joan M. , Rosel, Daniel and Agrawal, Pankaj B.
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
ARHGAP42
encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part of
ARHGAP42
have not been reported. Here,...
Alternative Titles
Full title
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
Authors, Artists and Contributors
Author / Creator
Dibus, Michal
Casey, Alicia
Yee, Christina S. K.
Vargas, Sara O.
Luo, Shiyu
Rosen, Samantha M.
Madden, Jill A.
Genetti, Casie A.
Brabek, Jan
Brownstein, Catherine A.
Kazerounian, Shideh
Raby, Benjamin A.
Schmitz-Abe, Klaus
Kennedy, John C.
Fishman, Martha P.
Mullen, Mary P.
Taylor, Joan M.
Rosel, Daniel
Agrawal, Pankaj B.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2561940643
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2561940643
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1009639
