| STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma. | STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma.
Sweed D, Elhamed SMA, Aiad HAS, Ehsan NA, Hemida AS, Dawoud MM., Free PMC Article | 03/29/2024 |
| Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. | Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
Coban MA, Blackburn PR, Whitelaw ML, Haelst MMV, Atwal PS, Caulfield TR., Free PMC Article | 06/26/2021 |
| SIM1 is part of the leptin-melanocortin system. | Genetic variation in the SIM1 locus is associated with erectile dysfunction.
Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK., Free PMC Article | 12/22/2018 |
| SIM1 was highly methylated in the majority of the cervical cancer tissues. Hypermethylation of SIM1 led to a pronounced reduction in SIM1 expression in cervical cancer tissues compared with normal cervix. The degree of SIM1 methylation was significantly associated with the severity of the disease. | Aberrant single-minded homolog 1 methylation as a potential biomarker for cervical cancer.
Kim HJ, Kim CY, Jin J, Bae MK, Kim YH, Ju W, Kim YH, Kim SC. | 07/21/2018 |
| Single nucleotide polymorphism rs3734354 in SIM1 gene is associated with severe early-onset obesity. | Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.
Windholz J, Kovacs P, Schlicke M, Franke C, Mahajan A, Morris AP, Lemke JR, Klammt J, Kiess W, Schöneberg T, Pfäffle R, Körner A. | 03/31/2018 |
| identified a novel SIM1 variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods | Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.
Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M, Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D., Free PMC Article | 09/16/2017 |
| no gene harboring deletions were identified in the SIM1 and MRAP2 regions in the Prader Willi like (PWL) cohort; further functional analysis of p.P352S found in SIM1 and p.A40S found in MRAP2 is useful; this would provide further support for possible role of SIM1 and MRAP2 in the pathogenesis of the PWL phenotype in a limited number of patients | Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W. | 12/17/2016 |
| Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the Prader-Willi-like phenotype | Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A., Free PMC Article | 04/30/2016 |
| Aberrant DNA methylation of the DLX4 and SIM1 genes may be a novel progression marker for uterine cervical low-grade squamous intraepithelial lesions. | Aberrant DNA methylation of DLX4 and SIM1 is a predictive marker for disease progression of uterine cervical low-grade squamous intraepithelial lesion.
Sakane J, Taniyama K, Miyamoto K, Saito A, Kuraoka K, Nishimura T, Sentani K, Oue N, Yasui W. | 01/30/2016 |
| Severe loss-of-function SIM1 mutations can be associated with a spectrum of developmental delay phenotypes and obesity. | Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A. | 09/26/2015 |
| functional in vitro analysis of SIM1 variants may help in distinguishing benign variants of no pathogenic significance from variants which contribute to the obesity phenotype. | Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.
Zegers D, Beckers S, Hendrickx R, Van Camp JK, de Craemer V, Verrijken A, Van Hoorenbeeck K, Verhulst SL, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W. | 04/4/2015 |
| Study found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously | Associations between oxytocin-related genes and autistic-like traits.
Hovey D, Zettergren A, Jonsson L, Melke J, Anckarsäter H, Lichtenstein P, Westberg L. | 01/10/2015 |
| two brain enhancers in the SIM1 locus are characterized with a set of obesity-specific SNPs within one of them, which may predispose individuals to obesity. | Functional characterization of SIM1-associated enhancers.
Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N., Free PMC Article | 11/29/2014 |
| Data suggest selected SIM1 variants exhibit poor dimerization with ARNT2 (aryl-hydrocarbon receptor nuclear translocator 2) and anomalous intracellular localization; data were used to predict spot in SIM1/SIM2 (residues 290-326) critical in function. | Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML. | 09/27/2014 |
| Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1 | Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A. | 07/5/2014 |
| Phenotypic similarities between patients with SIM1 deficiency and MC4R deficiency suggest that some of the effects of SIM1 deficiency on energy homeostasis are mediated by altered melanocortin signaling. | Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS., Free PMC Article | 10/19/2013 |
| A link between SIM1 loss of function and severe obesity associated with, or independent of, Prader-Willi-like features. | Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P., Free PMC Article | 10/19/2013 |
| Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis. | Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.
Faryna M, Konermann C, Aulmann S, Bermejo JL, Brugger M, Diederichs S, Rom J, Weichenhan D, Claus R, Rehli M, Schirmacher P, Sinn HP, Plass C, Gerhauser C. | 04/13/2013 |
| TagSNP analysis of SIM1 revealed two SNPs in the 3' region (rs9390322 and rs7746743) and another in intron 5 (rs3734353) to be significantly associated with various adiposity measures in ethnicity- and sex-specific manners... | Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Swarbrick MM, Evans DS, Valle MI, Favre H, Wu SH, Njajou OT, Li R, Zmuda JM, Miljkovic I, Harris TB, Kwok PY, Vaisse C, Hsueh WC., Free PMC Article | 05/12/2012 |
| Our study excludes a major contribution of SIM1 common variants in exons, 5' and 3' UTR regions in polygenic obesity susceptibility in French Europeans. | Analysis of the SIM1 contribution to polygenic obesity in the French population.
Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D, Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D., Free PMC Articles: PMC2953787, PMC2953787 | 02/26/2011 |
| Hyperphagic obesity in single-minded homolog 1 (Sim1)-deficient mice may be attributable to transgenic changes in the leptin-melanocortin-oxytocin pathway. | Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.
Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM., Free PMC Article | 04/12/2010 |
| Common variation in SIM1 is associated with body mass index on a population level in Pima Indians where the risk allele is the major allele. | Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.
Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ, Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ., Free PMC Articles: PMC2699863, PMC2699863 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesA large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ. Analysis of the SIM1 contribution to polygenic obesity in the French population.
Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D, Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.
Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ, Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.
Gregório SP, Sallet PC, Do KA, Lin E, Gattaz WF, Dias-Neto E. Studies of the SIM1 gene in relation to human obesity and obesity-related traits.
Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS. | 03/13/2008 |
| SIM1 and SIM2 have a novel nuclear localization signal | A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2.
Yamaki A, Kudoh J, Shimizu N, Shimizu Y. | 01/21/2010 |
| SIM1 transgene completely rescued the hyperphagia and partially rescued the obesity of agouti yellow mice | SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.
Kublaoui BM, Holder JL Jr, Tolson KP, Gemelli T, Zinn AR. | 01/21/2010 |