Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
In literature, PWL patients do frequently harbor deletions at 6q16, which led to the identification of the single-minded 1 (SIM1) gene as a possible cause for the presence of obesity in these patients.
|
29066024 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Injury to hypothalamic Sim1 neurons is a common feature of obesity by exposure to high-fat diet in male and female mice.
|
30615192 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We detected five rare heterozygous mutations in five different children with obesity: MC4R p.Ile301Thr and SIM1 p.Val326Thrfs*43 mutations that were pathogenic; SIM1 p.Ser343Pro and SH2B1 p.Pro90His mutations that were likely pathogenic; and NTRK2 p.Leu140Phe that was of uncertain significance.
|
29216354 |
2018 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As we found one MLPA probe to interfere with a polymorphism in SIM1 we investigated its association with obesity and other phenotypic traits in our extended cohort of 2305 children.
|
28593922 |
2017 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we screened the functional regions of SIM1 in severely obese children of Slovak and Moravian descent to determine if genetic variants within SIM1 may influence the development of obesity in these populations.
|
28472148 |
2017 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency.
|
25351778 |
2015 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Severe loss-of-function SIM1 mutations can be associated with a spectrum of developmental delay phenotypes and obesity.
|
25234154 |
2014 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have demonstrated the presence of rare SIM1 variants in both an obese pediatric population and a population of lean adult controls.
|
24097297 |
2014 |
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity.
|
24203700 |
2014 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SIM1 variants with reduced activity cosegregated with obesity in extended family studies with variable penetrance.
|
23778139 |
2013 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Proximal interstitial 6q deletion involving Single-minded 1 (SIM1) gene causes a syndromic form of obesity mimicking Prader-Willi syndrome.
|
24038875 |
2013 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three mutations showed strong loss-of-function effects (p.T46R, p.H323Y, and p.T714A) and were associated with high intra-family risk for obesity, while the variants with mild or no effects on SIM1 activity were not associated with obesity within families.
|
23778136 |
2013 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions.
|
23401328 |
2013 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the SIM1 contribution to polygenic obesity in the French population.
|
20075856 |
2010 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
To assess the role of SIM1 in polygenic obesity, this gene was analyzed in the Pima Indian population, which has a high prevalence of obesity.
|
19401419 |
2009 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results support the evidence that haploinsufficiency of the SIM1 gene is responsible for obesity in these patients.
|
18648397 |
2008 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We examined whether variants in the SIM1 gene might be associated with severe early-onset obesity in humans.
|
16924270 |
2007 |
Obesity
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We examined whether variants in the SIM1 gene might be associated with severe early-onset obesity in humans.
|
16924270 |
2007 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Herein we report cytogenetic and gene studies including a screening for the SIM1 gene deletion, performed on 87 patients with PWS-like phenotype, and describe the fifth case of syndromic obesity with an interstitial deletion of the chromosome segment 6q16-q21 and suggest that mutational analysis and further studies of the parental origin of chromosome alterations of 6q16.2 in patients with and without PWS-like phenotype are needed to evaluate possible imprinting effects of SIM1 gene and establish the contribution that alterations in this gene makes to the etiology of syndromic and non-syndromic obesity.
|
16829351 |
2006 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Compared with wild-type mice, SIM1 transgenic mice had no obvious phenotype on a low-fat chow diet but were resistant to diet-induced obesity on a high-fat diet due to reduced food intake with no change in energy expenditure.
|
16709610 |
2006 |
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
Since acquired lesions in the PVN also induce increased appetite without a decrease in energy expenditure, we propose that abnormalities of PVN development cause the obesity of Sim1(+/-) mice.
|
11448938 |
2001 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
|
10587584 |
2000 |
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1.
|
9784500 |
1998 |
Obesity
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|