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ey0015.5-9 | Life-long skeletal consequences of delayed puberty | ESPEYB15

5.9 Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood

DL Cousminer , JA Mitchell , A Chesi , SM Roy , HJ Kalkwarf , JM Lappe , V Gilsanz , SE Oberfield , JA Shepherd , A Kelly , SE McCormack , BF Voight , BS Zemel , SF Grant

To read the full abstract: J Bone Miner Res 2018;33:430-436Bone mass increases dramatically during puberty. The process of sexual maturation is therefore likely to impact lifelong bone health. Bone mineral density (BMD) tracks throughout life and later age at menarche is associated with increased osteoporosis risk in women, possibly because of combined effects of later menarche and lower peak bone ma...

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ey0019.1-2 | Basic Science and Stem Cells | ESPEYB19

1.2. Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

MC Pahl , CA Doege , KM Hodge , SH Littleton , ME Leonard , S Lu , R Rausch , JA Pippin , MC De Rosa , A Basak , JP Bradfield , RK Hammond , K Boehm , RI Berkowitz , C Lasconi , C Su , A Chesi , ME Johnson , AD Wells , BF Voight , RL Leibel , DL Cousminer , SFA Grant

Nat Commun. 2021 Nov 19;12(1):6749. doi: 10.1038/s41467-021-27001-4. PMID: 34799566.Brief Summary: The authors used RNA-seq, ATAC-seq, and promoter-focused Capture C to characterize the genetic architecture during hypothalamic differentiation. This information provides insights into mechanisms by which noncoding GWAS loci are associated with hypothalamic-regulated traits potentially mediat...

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ESPE Yearbook of Paediatric Endocrinology

5.9 Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood

1.2. Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

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