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ea0051oc4.4 | Oral Communications 4 | BSPED2017

The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism

Kyprianou Nikolina , Gregory Louise , Vignola Maria Lillina , Nichols James , Marinelli Eugenia , Gualtieri Angelica , Scagliotti Valeria , Besser Rachel , Camper Sally , Davis Shannon , Hogler Wolfgang , Temple Karen , Davies Justin H , Casado Pedro , Rajeeve Vinothini , Cutillas Pedro , Gevers Evelien , Dattani Mehul , Gaston-Massuet Carles

Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include short stature and pubertal delay. The underlying mechanism of endocrinopathies in RASopathies has not been fully elucidated. We report four BRAF mutations (two of which are novel) in four children with congenital hypopituitarism and RASopathy features. To demonstrate the functional role of the variants we performed phosphoproteomic analyses...

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Endocrine Abstracts

The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism

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