Detalhe da pesquisa
1.
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
Hum Mol Genet
; 23(20): 5570-8, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24879641
2.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Hum Mol Genet
; 23(24): 6432-40, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25015100
3.
Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism.
Curr Opin Lipidol
; 26(2): 88-95, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692341
4.
Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence.
Biochem J
; 459(3): 551-64, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24568320
5.
Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
Biochem J
; 461(3): 403-12, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814368
6.
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic ß-cells.
Nat Genet
; 50(8): 1122-1131, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054598
7.
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Nat Genet
; 47(12): 1415-25, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26551672
8.
A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
PLoS One
; 9(2): e89335, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586696
9.
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.
J Clin Endocrinol Metab
; 99(6): E1067-71, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24606082
10.
Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
Obesity (Silver Spring)
; 22(12): 2621-4, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25234154
11.
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
J Clin Invest
; 123(7): 3037-41, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778136
12.
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
J Clin Invest
; 123(7): 3042-50, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778139
13.
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Diabetes Care
; 35(7): 1482-4, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611063