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1.5. Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland

Scagliotti V. , Vignola M.L. , Willis T. , Howard M. , Marinelli E. , Gaston-Massuet C.

Brief Summary: This study identifies the role of the Dlk1 gene dosage in controlling the size of the pituitary gland. Dlk1 is an imprinted geneexpression is based on parental originwhich plays a critical role in determining pituitary gland size.The authors investigated how varying the dosage of Dlk1 affects pituitary size using genetically modified mice. Elegantly both, loss-of-function and overexpression of Dlk...

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ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

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ESPE Yearbook of Paediatric Endocrinology

1.5. Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

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