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4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

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ey0015.3-4 | Mechanisms of the year | ESPEYB15

3.4 Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo

GS Hones , H Rakov , J Logan , XH Liao , E Werbenko , AS Pollard , SM Praestholm , MS Siersbaek , E Rijntjes , J Gassen , S Latteyer , K Engels , KH Strucksberg , P Kleinbongard , D Zwanziger , J Rozman , V Gailus-Durner , H Fuchs , M Hrabe de Angelis , L Klein-Hitpass , J Kohrle , DL Armstrong , L Grontved , JHD Bassett , GR Williams , S Refetoff , D Fuhrer , LC Moeller

To read the full abstract: Proc Natl Acad Sci U S A 2017;114:E11323-E11332The mechanism of thyroid hormone (TH) action is classically attributed to thyroid hormone receptor (THR) binding to thyroid hormone responsive elements (TRE) in promotors of target genes, directly controlling gene expression in target tissues. Thus, THRs alpha (TRa) and beta (TRb) function as TH dependent transcription ...

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ESPE Yearbook of Paediatric Endocrinology

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

3.4 Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo

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