Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.

Lise FolonMorgane BaronVictoria ScherrerBénédicte ToussaintEmmanuel VaillantHélène LoiselleAurélie DechaumeFrédérique De PooterRaphaël BoutryMathilde BoisselAboubacar DialloLijiao NingBeverley BalkauGuillaume CharpentierSylvia FrancMichel MarreMehdi DerhourhiPhillippe Froguel Amélie Bonnefond

Published in: Diabetes care (2024)

P/LP, total loss-of-function DYRK1B variants cause monogenic obesity associated with type 2 diabetes. This study underscores the significance of conducting functional assessments in order to accurately ascertain the tangible effects of P/LP DYRK1B variants.

Keyphrases

copy number
insulin resistance
metabolic syndrome
weight loss
type diabetes
high fat diet induced
weight gain
dna methylation
gene expression
skeletal muscle