TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Author

TOPALOGLU, A. Kemal¹ ; REIMANN, Frank² ; IMAMOGLU, Sazi³ ; AKALIN, N. Sema⁴ ; YUKSEL, Bilgin¹ ; O'RAHILLY, Stephen⁶ ; SEMPLE, Robert K⁶ ; GUCLU, Metin³ ; YALIN, Ayse Serap⁴ ; KOTAN, L. Damla⁵ ; PORTER, Keith M⁶ ; SERIN, Ayse⁵ ; MUNGAN, Neslihan O¹ ; COOK, Joshua R⁶ ; OZBEK, Mehmet N¹
[1] Cukurova University, Faculty of Medicine, Department of Pediatric Endocrinology and Metabolism, Balcali, Adana 01330, Turkey
[2] Cambridge Institute for Medical Research and Department of Clinical Biochemistry, University of Cambridge, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 OXY, United Kingdom
[3] Uludag University, Faculty of Medicine, Department of Endocrinology and Metabolism, Bursa 16059, Turkey
[4] Marmara University, Faculty of Medicine, Department of Endocrinology and Metabolism, Istanbul 24722, Turkey
[5] Cukurova University, Faculty of Medicine, Department of Forensic Medicine, Balcali, Adana 01330, Turkey
[6] University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Hills Road, Cambridge CB2 OQQ, United Kingdom

Source

Nature genetics. 2009, Vol 41, Num 3, pp 354-358, 5 p ; ref : 28 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Hypogonadisme hypogonadotrope Mutation Reproduction Régulation Endocrinopathie Pathologie de l'appareil génital Pathologie de l'hypothalamus

Keyword (en)

Hypogonadotropic hypogonadism Mutation Reproduction Regulation(control) Endocrinopathy Genital diseases Hypothalamic diseases

Keyword (es)

Hipogonadismo hipogonadotropo Mutación Reproducción Regulación Endocrinopatía Aparato genital patología Hipotálamo patología

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21A Hypothalamus. Hypophysis. Epiphysis (diseases) / 002B21A01 Non tumoral diseases. Target tissue resistance. Benign neoplasms

Discipline

Endocrinopathies Eukaryotes genetics. Biological and molecular evolution

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

21176947

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS