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3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

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ey0016.11-3 | New Insights into Body Weight Regulation | ESPEYB16

11.3. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Y Yang , AA van der Klaauw , L Zhu , TM Cacciottolo , Y He , LKJ Stadler , C Wang , P Xu , K Saito , A Jr. Hinton , X Yan , JM Keogh , E Henning , MC Banton , AE Hendricks , EG Bochukova , V Mistry , KL Lawler , L Liao , J Xu , S O'Rahilly , Q Tong , UK10K Consortium , I Barroso , BW O'Malley , IS Farooqi , Y Xu

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

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ESPE Yearbook of Paediatric Endocrinology

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

11.3. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

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