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ey0017.6-5 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.5. Undifferentiated spermatogonia regulate Cyp26b1 expression through NOTCH signaling and drive germ cell differentiation

PA Parekh , TX Garcia , R Waheeb , V Jain , P Gandhi , ML Meistrich , G Shetty , MC Hofmann

To read the full abstract: FASEB J. 2019, Jul; 33: 842335. doi: https://www.ncbi.nlm.nih.gov/pubmed/30991836Retinoic acid (RA) is essential for the regulation of many developmental events including germ cell differentiation. In the developing testis, tight spatiotemporal control of RA levels is maintained by the enzyme CYP26B1, which inactivates RA. CYP26B1 expres...

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ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

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ESPE Yearbook of Paediatric Endocrinology

6.5. Undifferentiated spermatogonia regulate Cyp26b1 expression through NOTCH signaling and drive germ cell differentiation

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

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