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14.11. Increased weight loading reduces body weight and body fat in obese subjects - A proof of concept randomized clinical trial

C Ohlsson , E Gidestrand , J Bellman , C Larsson , V Palsdottir , D Hagg , PA Jansson , JO Jansson

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

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ey0016.15-18 | (1) | ESPEYB16

15.18. The gravitostat regulates fat mass in obese male mice while leptin regulates fat mass in lean male mice

C Ohlsson , DA Hagg , F Hammarhjelm , A Dalmau Gasull , J Bellman , SH Windahl , V Palsdottir , JO Jansson

To read the full abstract: Endocrinology. 2018 Jul 1;159(7):26762682.The authors compared the effects of leptin versus weight loading using intraperitoneal weighted capsules (gravitostat stimulation) on changes in fat mass in mice. Leptin infusion suppressed body weight and fat mass in lean but not in overweight or obese mice. Weight loading decreased body weight in ove...

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ey0015.1-2 | New mechanisms | ESPEYB15

1.2 Activation of temperature-sensitive TRPV1-like receptors in ARC POMC neurons reduces food intake

JH Jeong , DK Lee , SM Liu , SC Chua , GJ Schwartz , YH Jo

To read the full abstract: PLoS Biol 2018;16:e2004399The hypothalamus plays a central role in the control of numerous physiological pathways and received afferent pathways from the brain and from the periphery. For instance, body temperature changes in peripheral tissues are conveyed to the hypothalamus via the bloodstream. An increase of temperature within the hypothalamus results in an i...

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ey0018.1-8 | Genetics | ESPEYB18

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

SA Vishnopolska , MF Mercogliano , MA Camilletti , AH Mortensen , D Braslavsky , A Keselman , I Bergada , F Olivieri , L Miranda , R Marino , P Ramirez , GN Perez , H Patino Mejia , M Ciaccio , MI Di Palma , A Belgorosky , A Marti Marcelo , JO Kitzman , SA Camper , MI Perez-Millan

J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone defici...

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ey0019.1-6 | Genetics | ESPEYB19

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics , C Smith , H Bando , AAL Jorge , D Rockstroh-Lippold , SA Vishnopolska , F Castinetti , M Maksutova , LRS Carvalho , J Hoppmann , Mayer J Martinez , F Albarel , D Braslavsky , A Keselman , I Bergada , MA Marti , A Saveanu , A Barlier , Jamra R Abou , MH Guo , A Dauber , M Nakaguma , BB Mendonca , SN Jayakody , AB Ozel , Q Fang , Q Ma , JZ Li , T Brue , Millan MI Perez , IJP Arnhold , R Pfaeffle , JO Kitzman , SA Camper

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

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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

14.11. Increased weight loading reduces body weight and body fat in obese subjects - A proof of concept randomized clinical trial

15.18. The gravitostat regulates fat mass in obese male mice while leptin regulates fat mass in lean male mice

1.2 Activation of temperature-sensitive TRPV1-like receptors in ARC POMC neurons reduces food intake

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

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

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