100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.
b-cell development
diabetes
genomics
pancreas
Journal
The Journal of endocrinology
ISSN: 1479-6805
Titre abrégé: J Endocrinol
Pays: England
ID NLM: 0375363
Informations de publication
Date de publication:
22 07 2021
22 07 2021
Historique:
received:
10
05
2021
accepted:
30
06
2021
pubmed:
2
7
2021
medline:
23
11
2021
entrez:
1
7
2021
Statut:
epublish
Résumé
Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.
Identifiants
pubmed: 34196608
doi: 10.1530/JOE-21-0067
pii: JOE-21-0067
pmc: PMC9037733
mid: NIHMS1789609
doi:
pii:
Substances chimiques
Insulin
0
Types de publication
Historical Article
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
R23-R35Subventions
Organisme : NIDDK NIH HHS
ID : U01 DK105535
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIDDK NIH HHS
ID : P30 DK116074
Pays : United States
Organisme : NIDDK NIH HHS
ID : K12 DK122550
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK085545
Pays : United States
Organisme : NIDDK NIH HHS
ID : UM1 DK126185
Pays : United States
Organisme : Wellcome Trust
ID : 200837/Z/16/Z
Pays : United Kingdom
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