ISSN 1662-4009 (online)

ey0016.5-17 | Basic Science - Bone | ESPEYB16

5.17. Coupling of bone resorption and formation by RANKL reverse signalling

Y Ikebuchi , S Aoki , M Honma , M Hayashi , Y Sugamori , M Khan , Y Kariya , G Kato , Y Tabata , JM Penninger , N Udagawa , K Aoki , H Suzuki

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

ey0021.6-4 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.4. Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias

Y Masunaga , Y Fujisawa , F Massart , C Spinelli , Y Kojima , K Mizuno , Y Hayashi , I Sasagawa , R Yoshida , F Kato , M Fukami , N Kamatani , H Saitsu , T Ogata

Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...