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1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

J Polex-Wolf , BY Lam , R Larder , J Tadross , D Rimmington , F Bosch , VJ Cenzano , E Cenzano , MK Ma , K Rainbow , AP Coll , S O'Rahilly , GS Yeo

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...

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ey0015.7-9 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.9 Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

SR Howard , L Guasti , A Poliandri , A David , CP Cabrera , MR Barnes , K Wehkalampi , S O'Rahilly , CE Aiken , AP Coll , M Ma , D Rimmington , GSH Yeo , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

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ESPE Yearbook of Paediatric Endocrinology

1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

7.9 Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

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