SIM1 Antibody, Biotin conjugated

1. SIM1 is part of the leptin-melanocortin system. PMID: 30297428
2. 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. PMID: 29063719
3. Single nucleotide polymorphism rs3734354 in SIM1 gene is associated with severe early-onset obesity. PMID: 28593922
4. 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 PMID: 28472148
5. 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 PMID: 26795956
6. Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the Prader-Willi-like phenotype PMID: 25351778
7. Aberrant DNA methylation of the DLX4 and SIM1 genes may be a novel progression marker for uterine cervical low-grade squamous intraepithelial lesions. PMID: 25614457
8. Severe loss-of-function SIM1 mutations can be associated with a spectrum of developmental delay phenotypes and obesity. PMID: 25234154
9. 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. PMID: 24097297
10. 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 PMID: 24635660
11. 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. PMID: 24203700
12. 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. PMID: 24814368
13. Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1 PMID: 24038875
14. A link between SIM1 loss of function and severe obesity associated with, or independent of, Prader-Willi-like features. PMID: 23778136
15. 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. PMID: 23778139
16. 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. PMID: 22930747
17. 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... PMID: 21512513
18. Our study excludes a major contribution of SIM1 common variants in exons, 5' and 3' UTR regions in polygenic obesity susceptibility in French Europeans. PMID: 20075856
19. Hyperphagic obesity in single-minded homolog 1 (Sim1)-deficient mice may be attributable to transgenic changes in the leptin-melanocortin-oxytocin pathway. PMID: 20220015
20. Haploinsufficiency of the SIM1 gene might be responsible for the severe obesity observed in a child with a Prader-Willi-like phenotype. PMID: 12161602
21. SIM1 and SIM2 have a novel nuclear localization signal PMID: 14697214
22. SIM1 transgene completely rescued the hyperphagia and partially rescued the obesity of agouti yellow mice PMID: 16709610
23. 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. PMID: 19401419

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HGNC: 10882

OMIM: 603128

KEGG: hsa:6492

STRING: 9606.ENSP00000262901

UniGene: Hs.520293