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1.1. SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Lettieri A. , Oleari R. , van den Munkhof M.H. , van Battum E.Y. , Verhagen M.G. , Tacconi C.

Brief Summary: This research identifies a role for SEMA6A in puberty onset by regulating median eminence vascular permeability.The authors elegantly use murine transgenics of Sema6a -/- combined with cell biology, biochemical assays and human genetics to identify a previously unknown role for Sema6a in regulating vascular permeability of endothelial cells within the median eminence (ME) to maintain neuroendocrine homeostasis. The role of SEMA6A ...

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ey0016.7-4 | Genetics of Puberty | ESPEYB16

7.4. HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes

SR Howard , R Oleari , A Poliandri , V Chantzara , A Fantin , G Ruiz-Babot , LA Metherell , CP Cabrera , MR Barnes , K Wehkalampi , L Guasti , C Ruhrberg , A Cariboni , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):34203429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...

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ESPE Yearbook of Paediatric Endocrinology

1.1. SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

7.4. HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes

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