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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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ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

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ESPE Yearbook of Paediatric Endocrinology

3.4 Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo

12.5. Perspectives of rare disease experts on newborn genome sequencing

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