Vibratory Urticaria Associated with a Missense Variant in ADGRE2
Vibratory Urticaria Associated with a Missense Variant in ADGRE2
About this item
Full title
Author / Creator
Boyden, Steven E , Desai, Avanti , Cruse, Glenn , Young, Michael L , Bolan, Hyejeong C , Scott, Linda M , Eisch, A. Robin , Long, R. Daniel , Lee, Chyi-Chia R , Satorius, Colleen L , Pakstis, Andrew J , Olivera, Ana , Mullikin, James C , Chouery, Eliane , Mégarbané, André , Medlej-Hashim, Myrna , Kidd, Kenneth K , Kastner, Daniel L , Metcalfe, Dean D and Komarow, Hirsh D
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
A variant in
ADGRE2,
encoding an adhesion G-protein–coupled receptor, is associated with vibratory urticaria. The variant probably causes disease; if so, it is likely to do so by weakening an autoinhibitory mechanism of the receptor.
Physical urticarias are disorders in which localized hives develop in response to any of various stimuli.
Alternative Titles
Full title
Vibratory Urticaria Associated with a Missense Variant in ADGRE2
Authors, Artists and Contributors
Author / Creator
Desai, Avanti
Cruse, Glenn
Young, Michael L
Bolan, Hyejeong C
Scott, Linda M
Eisch, A. Robin
Long, R. Daniel
Lee, Chyi-Chia R
Satorius, Colleen L
Pakstis, Andrew J
Olivera, Ana
Mullikin, James C
Chouery, Eliane
Mégarbané, André
Medlej-Hashim, Myrna
Kidd, Kenneth K
Kastner, Daniel L
Metcalfe, Dean D
Komarow, Hirsh D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4782791
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4782791
Other Identifiers
ISSN
0028-4793,1533-4406
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1500611
