A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia-Reference-Cited by-同舟云学术

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A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

Published:2021-12-15 Issue:24 Volume:131 Page:
ISSN:1558-8238
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Whittaker Danielle E.^ORCID,Oleari Roberto^ORCID,Gregory Louise C.^ORCID,Le Quesne-Stabej Polona,Williams Hywel J.^ORCID,Torpiano John G.,Formosa Nancy,Cachia Mario J.,Field Daniel,Lettieri Antonella^ORCID,Ocaka Louise A.,Paganoni Alyssa J.J.^ORCID,Rajabali Sakina H.,Riegman Kimberley L.H.,De Martini Lisa B.,Chaya Taro^ORCID,Robinson Iain C.A.F.,Furukawa Takahisa^ORCID,Cariboni Anna^ORCID,Basson M. Albert^ORCID,Dattani Mehul T.

Funder

EMBO

Wellcome Trust

Medical Research Foundation

Great Ormond Street Hospital Charity

Italian Minstry of Health

Japan Society for the Promotion of Science and The Takeda Science Foundation

N/A

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/141587/files/pdf

Reference77 articles.

1. European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

2. Development of gonadotropin-releasing hormone-1 neurons

3. GnRH, anosmia and hypogonadotropic hypogonadism – Where are we?

4. TheGPR54Gene as a Regulator of Puberty

5. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

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4. SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability;Nature Communications;2023-12-07

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