Abstract Search

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 ...

0 shares

ey0015.7-10 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

J Bouilly , A Messina , G Papadakis , D Cassatella , C Xu , JS Acierno , B Tata , G Sykiotis , S Santini , Y Sidis , E Elowe-Gruau , F Phan-Hug , M Hauschild , PM Bouloux , R Quinton , M Lang-Muritano , L Favre , L Marino , P Giacobini , AA Dwyer , NJ Niederländer , N Pitteloud

To read the full abstract: Hum Mol Genet. 2018 Jan 15;27(2):359-372See comment on 7.11...

0 shares

ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

BiosciAbstracts