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5.12. Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

L Cotellessa , F Marelli , P Duminuco , M Adamo , GE Papadakis , L Bartoloni , N Sato , M Lang-Muritano , A Troendle , WS Dhillo , A Morelli , G Guarnieri , N Pitteloud , L Persani , M Bonomi , P Giacobini , V Vezzoli

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

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ESPE Yearbook of Paediatric Endocrinology

5.12. Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

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