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ey0020.12-11 | Basic Research | ESPEYB20

12.11. Estradiol regulates leptin sensitivity to control feeding via hypothalamic Cited1

I Gonzalez-Garcia , E Garcia-Clave , A Cebrian-Serrano , O Le Thuc , RE Contreras , Y Xu , T Gruber , SC Schriever , B Legutko , J Lintelmann , J Adamski , W Wurst , TD Muller , SC Woods , PT Pfluger , MH Tschop , A Fisette , C Garcia-Caceres

Brief summary: This basic science study in mice shows how melanocortin neurons integrate reproductive signaling with energy homeostasis. In melanocortin neurons, estradiol (E2) enhances the anorectic action of leptin. Cited1 is enriched in these neurons and its loss exacerbates diet-induced obesity in female mice. Using several specific mouse models it is demonstrated how hypothalamic Cited1, via ERα and Stat3 interactions, link the effects of E2 and leptin on food intake...

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ey0019.1-5 | Genetics | ESPEYB19

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

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ey0015.14-14 | Reliable evidence on mouse knock-outs | ESPEYB15

14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

TF Meehan , N Conte , DB West , JO Jacobsen , J Mason , J Warren , CK Chen , I Tudose , M Relac , P Matthews , N Karp , L Santos , T Fiegel , N Ring , H Westerberg , S Greenaway , D Sneddon , H Morgan , GF Codner , ME Stewart , J Brown , N Horner , C International Mouse Phenotyping , M Haendel , N Washington , CJ Mungall , CL Reynolds , J Gallegos , V Gailus-Durner , T Sorg , G Pavlovic , LR Bower , M Moore , I Morse , X Gao , GP Tocchini-Valentini , Y Obata , SY Cho , JK Seong , J Seavitt , AL Beaudet , ME Dickinson , Y Herault , W Wurst , MH de Angelis , KCK Lloyd , AM Flenniken , LMJ Nutter , S Newbigging , C McKerlie , MJ Justice , SA Murray , KL Svenson , RE Braun , JK White , A Bradley , P Flicek , S Wells , WC Skarnes , DJ Adams , H Parkinson , AM Mallon , SDM Brown , D Smedley

To read the full abstract: Nat Genet 2017;49:1231-1238This large international initiative is a major collaboration across 25 research institutes that was set up as part of the scientific community’s response to concerns regarding the notoriously poor reproducibility of scientific research. Up to now, many mouse gene knock-outs have been made and reported, but inconsistency between finding...

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ESPE Yearbook of Paediatric Endocrinology

12.11. Estradiol regulates leptin sensitivity to control feeding via hypothalamic Cited1

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

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