Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Stem Cell
SUBMITTER: Johannes Krumm
LAB HEAD: Bernhard Kuster
PROVIDER: PXD018887 | Pride | 2021-11-03
REPOSITORIES: Pride
Items per page: 1 - 5 of 57 |
Nature medicine 20211018 11
Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1 define a distinctive subgroup of diabetic patients with early-onset, nonautoim ...[more]