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7.11. MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

AP Abreu , CA Toro , YB Song , VM Navarro , MA Bosch , A Eren , JN Liang , RS Carroll , AC Latronico , OK Ronnekleiv , CF Aylwin , A Lomniczi , S Ojeda , UB Kaiser

J Clin Invest. 2020 Aug 3;130(8):44864500. 10.1172/JCI136564. PMID: 32407292 https://www.jci.org/articles/view/136564In brief: This study in rats and non-human primate models investigated the mechanisms by which MKRN3 regulates pubertal onset in rats and non-human primates.Comment: Pubertal timing is in...

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ey0016.3-11 | New Genes | ESPEYB16

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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ESPE Yearbook of Paediatric Endocrinology

7.11. MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

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

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