Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Javier A. Tello; Claire L. Newton; Jerome Bouligand; Anne Guiochon-Mantel; Robert P. Millar; Jacques Young

doi:10.1371/journal.pone.0038456

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Peer-reviewed

Research Article

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Javier A. Tello,

Affiliation Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, Edinburgh, United Kingdom
⨯
Claire L. Newton,

Affiliations Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, Edinburgh, United Kingdom, University of Cape Town/Medical Research Council Receptor Biology Unit, University of Cape Town, Cape Town, South Africa
⨯
Jerome Bouligand,

Affiliations Univ Paris-Sud, Faculté de Médecine Paris-Sud UMR-S693, Le Kremlin Bicêtre, France, INSERM U693, IFR93, Le Kremlin-Bicêtre, France, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin Bicêtre, France
⨯
Anne Guiochon-Mantel,

Affiliations Univ Paris-Sud, Faculté de Médecine Paris-Sud UMR-S693, Le Kremlin Bicêtre, France, INSERM U693, IFR93, Le Kremlin-Bicêtre, France, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin Bicêtre, France
⨯
Robert P. Millar ,

Contributed equally to this work with: Robert P. Millar, Jacques Young

* E-mail: robertpetermillar@gmail.com (RPM); jacques.young@bct.aphp.fr (JY)

Affiliations Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, Edinburgh, United Kingdom, University of Cape Town/Medical Research Council Receptor Biology Unit, University of Cape Town, Cape Town, South Africa, Mammal Research Institute, University of Pretoria, Pretoria, South Africa
⨯
Jacques Young

Contributed equally to this work with: Robert P. Millar, Jacques Young

* E-mail: robertpetermillar@gmail.com (RPM); jacques.young@bct.aphp.fr (JY)

Affiliations Univ Paris-Sud, Faculté de Médecine Paris-Sud UMR-S693, Le Kremlin Bicêtre, France, INSERM U693, IFR93, Le Kremlin-Bicêtre, France, Service d’Endocrinologie et des Maladies de la Reproduction, Le Kremlin Bicêtre, France
⨯

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Javier A. Tello,
Claire L. Newton,
Jerome Bouligand,
Anne Guiochon-Mantel,
Robert P. Millar,
Jacques Young

Published: June 5, 2012
https://doi.org/10.1371/journal.pone.0038456

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Substitution mutation
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Intracellular receptors
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Cell binding
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