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7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 5870. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

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ey0020.5-8 | Clinical Guidance and Studies | ESPEYB20

5.8. GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano , V Leysen , M Adamo , I Paiva , R Rovera , JM Pignat , FE Timzoura , M Candlish , S Eddarkaoui , SA Malone , MSB Silva , S Trova , M Imbernon , L Decoster , L Cotellessa , M Tena-Sempere , M Claret , A Paoloni-Giacobino , D Plassard , E Paccou , N Vionnet , J Acierno , AM Maceski , A Lutti , F Pfrieger , S Rasika , F Santoni , U Boehm , P Ciofi , L Buee , N Haddjeri , AL Boutillier , J Kuhle , A Messina , B Draganski , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...

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ESPE Yearbook of Paediatric Endocrinology

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

5.8. GnRH replacement rescues cognition in Down syndrome

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