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

Author:

Xu Cheng1,Messina Andrea1,Somm Emmanuel1,Miraoui Hichem1,Kinnunen Tarja2,Acierno James1,Niederländer Nicolas J1,Bouilly Justine1,Dwyer Andrew A13,Sidis Yisrael1,Cassatella Daniele1,Sykiotis Gerasimos P1,Quinton Richard4,De Geyter Christian5,Dirlewanger Mirjam6,Schwitzgebel Valérie6,Cole Trevor R7,Toogood Andrew A8,Kirk Jeremy MW9,Plummer Lacey10,Albrecht Urs11ORCID,Crowley William F10,Mohammadi Moosa12,Tena‐Sempere Manuel131415,Prevot Vincent1617,Pitteloud Nelly1ORCID

Affiliation:

1. Service of Endocrinology, Diabetology & Metabolism Lausanne University Hospital Lausanne Switzerland

2. Department of Biology School of Applied Sciences University of Huddersfield Huddersfield UK

3. University of Lausanne Institute of Higher Education and Research in Healthcare Lausanne Switzerland

4. Institute for Genetic Medicine University of Newcastle‐on‐Tyne Newcastle‐on Tyne UK

5. Clinic of Gynecological Endocrinology and Reproductive Medicine University Hospital University of Basel Basel Switzerland

6. Pediatric Endocrine and Diabetes Unit Children's Hospital University Hospitals and Faculty of Medicine Geneva Switzerland

7. Department of Clinical Genetics Birmingham Women's Hospital Birmingham UK

8. Department of Endocrinology Queen Elizabeth Hospital University Hospitals Birmingham Birmingham UK

9. Department of Endocrinology Birmingham Children's Hospital Birmingham UK

10. National Center for Translational Research in Reproduction and Infertility Harvard Reproductive Endocrine Sciences Center of the Department of Medicine Massachusetts General Hospital Boston MA USA

11. Department of Biology Biochemistry Faculty of Science University of Fribourg Fribourg Switzerland

12. Department of Biochemistry & Molecular Pharmacology New York University School of Medicine New York NY USA

13. Department of Cell Biology, Physiology and Immunology University of Cordoba Cordoba Spain

14. Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC/HURS) Cordoba Spain

15. CIBER Fisiopatología de la Obesidad y Nutrición Instituto de Salud Carlos III Cordoba Spain

16. Inserm Laboratory of Development and Plasticity of the Neuroendocrine Brain JPARC Lille France

17. FHU 1000 Days for Health School of Medicine University of Lille Lille France

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Agence Nationale pour le Développement de la Recherche en Santé

Ministerio de Economía y Competitividad

National Institute of Dental and Craniofacial Research

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

EMBO

Subject

Molecular Medicine

Reference94 articles.

1. A method and server for predicting damaging missense mutations

2. An ancient founder mutation in PROKR2 impairs human reproduction

3. The effects of gonadotropin replacement therapy on metabolic parameters and body composition in men with idiopathic hypogonadotropic hypogonadism;Bayram F;Horm Metab Res,2016

4. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay

5. Assessment of Insulin Sensitivityin Vivo*

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