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Ishiguro A; Spirin KS; Shiohara M; Tobler A; Gombart AF; Israel MA; Norton JD; Koeffler HP 《Blood》1996,87(12):5225-5231
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Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation
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Kim Knox Faulkner Kenneth Urial Gutsch 《The International journal of eating disorders》1986,5(4):777-781
The purpose of the study was to investigate what relationship if any existed among such contingencies as the ability to determine rate of subjective time (RST), the problem of obesity, and the predisposition toward a specific locus of control. A 2 × 2 × 2 ANOVA factorial design was used with 95 subjects who were assigned to 1 of 8 cells according to their weight, sex, and score on the Rotter Internal-External Locus of Control Scale. A significant finding was that there was a main effect for subject weight (p < .008), i.e., obese subjects had significantly faster RSJ's than their nonobese counterparts. RST was independent of locus of control and subject sex. Results of the study support the role of physiological factors in the etiology of obesity and reveal what may be a common mechanism in the etiology of both obesity and time perception based on hypothalamic function. Implications for future research on the treatment of obesity are discussed. 相似文献
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Thomas W. Laver Matthew N. Wakeling Olivia Knox Kevin Colclough Caroline F. Wright Sian Ellard Andrew T. Hattersley Michael N. Weedon Kashyap A. Patel 《Diabetes》2022,71(5):1128
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7), and PAX4 (MODY9) cause MODY. We examined variant-level genetic evidence (cosegregation with diabetes and frequency in population) for published putative pathogenic variants in these genes and used burden testing to test gene-level evidence in a MODY cohort (n = 1,227) compared with a control population (UK Biobank [n = 185,898]). For comparison we analyzed well-established causes of MODY, HNF1A, and HNF4A. The published variants in BLK, KLF11, and PAX4 showed poor cosegregation with diabetes (combined logarithm of the odds [LOD] scores ≤1.2), compared with HNF1A and HNF4A (LOD scores >9), and are all too common to cause MODY (minor allele frequency >4.95 × 10−5). Ultra-rare missense and protein-truncating variants (PTV) were not enriched in a MODY cohort compared with the UK Biobank population (PTV P > 0.05, missense P > 0.1 for all three genes) while HNF1A and HNF4A were enriched (P < 10−6). Findings of sensitivity analyses with different population cohorts supported our results. Variant and gene-level genetic evidence does not support BLK, KLF11, or PAX4 as a cause of MODY. They should not be included in MODY diagnostic genetic testing. 相似文献
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