Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.
Journal
Diabetes care
ISSN: 1935-5548
Titre abrégé: Diabetes Care
Pays: United States
ID NLM: 7805975
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
17
09
2020
accepted:
09
03
2021
pubmed:
27
6
2021
medline:
1
10
2021
entrez:
26
6
2021
Statut:
ppublish
Résumé
Multiple genome-wide association studies have identified a strong genetic linkage between the We identified a 24-year-old individual with T1D and other autoimmune and inflammatory conditions. The proband and first-degree relatives were recruited for whole-exome sequencing. Functional studies of the protein variant were performed using a cell line and primary myeloid immune cells collected from family members. Sequencing identified a de novo SKAP2 plays a key role in myeloid cell activation and migration. This particular mutation in a patient with T1D and multiple autoimmune conditions implicates a role for activating
Identifiants
pubmed: 34172489
pii: dc20-2317
doi: 10.2337/dc20-2317
pmc: PMC8385470
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
src kinase associated phosphoprotein 2
0
Banques de données
figshare
['10.2337/figshare.14192315']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1816-1825Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK063720
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007418
Pays : United States
Organisme : NIH HHS
ID : S10 OD021822
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK104942
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK020595
Pays : United States
Informations de copyright
© 2021 by the American Diabetes Association.
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