Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

• Jana Malikova ,

  ¶JM and NC are joint first authors on this work.

  Affiliations Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic, Pediatric Endocrinology, Department of Pediatrics and Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland

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• Núria Camats ,

  ¶JM and NC are joint first authors on this work.

  Affiliation Pediatric Endocrinology, Department of Pediatrics and Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland

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• Mónica Fernández-Cancio,

  Affiliation Pediatric Endocrinology, Vall d’Hebron Research Institute VHIR, CIBERER, Autonomous University, Barcelona, Spain

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• Karen Heath,

  Affiliation Institute of Medical and Molecular Genetics INGEMM, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain

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• Isabel González,

  Affiliation Pediatric Endocrinology Service, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain

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• María Caimarí,

  Affiliation Pediatric Endocrinology, Son Espases University Hospital, Palma de Mallorca, Spain

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• Miguel del Campo,

  Affiliation Genetic Service, Hospital Vall d’Hebron, Barcelona, Spain

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• Marian Albisu,

  Affiliation Pediatric Endocrinology, Vall d’Hebron Research Institute VHIR, CIBERER, Autonomous University, Barcelona, Spain

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• Stanislava Kolouskova,

  Affiliation Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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• Laura Audí,

  Affiliation Pediatric Endocrinology, Vall d’Hebron Research Institute VHIR, CIBERER, Autonomous University, Barcelona, Spain

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• Christa E. Flück

  * E-mail: christa.flueck@dkf.unibe.ch

  Affiliation Pediatric Endocrinology, Department of Pediatrics and Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland

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