Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article demonstrates a central role for BRAF in the devel...
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2021
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oai:doaj.org-article:e3eb9cf575fa459d8daff6264b9192782021-12-02T14:25:31ZActivating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans10.1038/s41467-021-21712-42041-1723https://doaj.org/article/e3eb9cf575fa459d8daff6264b9192782021-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21712-4https://doaj.org/toc/2041-1723Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article demonstrates a central role for BRAF in the development of the hypothalamo-pituitary axis leading to endocrine deficiencies in patients with RASopathies.Angelica GualtieriNikolina KyprianouLouise C. GregoryMaria Lillina VignolaJames G. NicholsonRachael TanShin-ichi InoueValeria ScagliottiPedro CasadoJames BlackburnFernando Abollo-JimenezEugenia MarinelliRachael E. J. BesserWolfgang HöglerI. Karen TempleJustin H. DaviesAndrey GagunashviliIain C.A.F. RobinsonSally A. CamperShannon W. DavisPedro R. CutillasEvelien F. GeversYoko AokiMehul T. DattaniCarles Gaston-MassuetNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-18 (2021) |
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DOAJ |
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EN |
| topic |
Science Q |
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Science Q Angelica Gualtieri Nikolina Kyprianou Louise C. Gregory Maria Lillina Vignola James G. Nicholson Rachael Tan Shin-ichi Inoue Valeria Scagliotti Pedro Casado James Blackburn Fernando Abollo-Jimenez Eugenia Marinelli Rachael E. J. Besser Wolfgang Högler I. Karen Temple Justin H. Davies Andrey Gagunashvili Iain C.A.F. Robinson Sally A. Camper Shannon W. Davis Pedro R. Cutillas Evelien F. Gevers Yoko Aoki Mehul T. Dattani Carles Gaston-Massuet Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| description |
Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article demonstrates a central role for BRAF in the development of the hypothalamo-pituitary axis leading to endocrine deficiencies in patients with RASopathies. |
| format |
article |
| author |
Angelica Gualtieri Nikolina Kyprianou Louise C. Gregory Maria Lillina Vignola James G. Nicholson Rachael Tan Shin-ichi Inoue Valeria Scagliotti Pedro Casado James Blackburn Fernando Abollo-Jimenez Eugenia Marinelli Rachael E. J. Besser Wolfgang Högler I. Karen Temple Justin H. Davies Andrey Gagunashvili Iain C.A.F. Robinson Sally A. Camper Shannon W. Davis Pedro R. Cutillas Evelien F. Gevers Yoko Aoki Mehul T. Dattani Carles Gaston-Massuet |
| author_facet |
Angelica Gualtieri Nikolina Kyprianou Louise C. Gregory Maria Lillina Vignola James G. Nicholson Rachael Tan Shin-ichi Inoue Valeria Scagliotti Pedro Casado James Blackburn Fernando Abollo-Jimenez Eugenia Marinelli Rachael E. J. Besser Wolfgang Högler I. Karen Temple Justin H. Davies Andrey Gagunashvili Iain C.A.F. Robinson Sally A. Camper Shannon W. Davis Pedro R. Cutillas Evelien F. Gevers Yoko Aoki Mehul T. Dattani Carles Gaston-Massuet |
| author_sort |
Angelica Gualtieri |
| title |
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| title_short |
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| title_full |
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| title_fullStr |
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| title_full_unstemmed |
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| title_sort |
activating mutations in braf disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/e3eb9cf575fa459d8daff6264b919278 |
| work_keys_str_mv |
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1718391401550446592 |