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1.5 NOTCH activity differentially affects alternative cell fate acquisition and maintenance

L Cheung , P Le Tissier , SG Goldsmith , M Treier , R Lovell-Badge , K Rizzoti

To read the full abstract: Elife 2018;7. pii: e33318Here, Cheung et al. use sophisticated tissue specific genetic ablation in pituitary cell lineages to uncover an unexpected differential sensitivity of NOTCH activation signalling pathway in different cell lineages during the embryonic murine pituitary development. These findings are important as they further demonstrate the importance of NOTCH pat...

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ey0019.1-7 | Genetics | ESPEYB19

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

L Akin , K Rizzoti , LC Gregory , B Corredor , Quesne Stabej P Le , H Williams , F Buonocore , S Mouilleron , V Capra , SM McGlacken-Byrne , GA Martos-Moreno , DN Azmanov , M Kendirci , S Kurtoglu , JP Suntharalingham , C Galichet , S Gustincich , V Tasic , JC Achermann , A Accogli , A Filipovska , A Tuilpakov , M Maghnie , Z Gucev , ZB Gonen , LA Perez-Jurado , I Robinson , R Lovell-Badge , J Argente , MT Dattani

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

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ESPE Yearbook of Paediatric Endocrinology

1.5 NOTCH activity differentially affects alternative cell fate acquisition and maintenance

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

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