ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 20 of about 550 results

ey0018.1-2 | Development/Ontogeny | ESPEYB18

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

F Ruf-Zamojski , Z Zhang , M Zamojski , GR Smith , N Mendelev , H Liu , G Nudelman , M Moriwaki , H Pincas , RG Castanon , VD Nair , N Seenarine , MAS Amper , X Zhou , L Ongaro , C Toufaily , G Schang , JR Nery , A Bartlett , A Aldridge , N Jain , GV Childs , OG Troyanskaya , JR Ecker , JL Turgeon , CK Welt , DJ Bernard , SC Sealfon

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...
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ey0018.8-8 | Clinical Trials – New Treatments | ESPEYB18

8.8. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

K Clement , E van den Akker , J Argente , A Bahm , WK Chung , H Connors , K De Waele , IS Farooqi , J Gonneau-Lejeune , G Gordon , K Kohlsdorf , C Poitou , L Puder , J Swain , M Stewart , G Yuan , M Wabitsch , P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators Kuhnen

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...
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ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...
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ey0019.7-8 | Basic Science | ESPEYB19

7.8. GnRH neurons recruit astrocytes in infancy to facilitate network integration and sexual maturation

G Pellegrino , M Martin , C Allet , T Lhomme , S Geller , D Franssen , V Mansuy , M Manfredi-Lozano , A Coutteau-Robles , V Delli , S Rasika , D Mazur , A Loyens , M Tena-Sempere , J Siepmann , FP Pralong , P Ciofi , G Corfas , AS Parent , SR Ojeda , A Sharif , V Prevot

Nat Neurosci. 2021 Dec;24(12):1660-1672. doi: 10.1038/s41593-021-00960-z. Epub 2021 Nov 18. PMID: 34795451. https://www.nature.com/articles/s41593-021-00960-zBrief Summary: This neuroanatomical and physiological study in mice demonstrates that GnRH neurons attract glial cells in their vicinity via cell–cell communication...
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ey0019.7-10 | Basic Science | ESPEYB19

7.10. The cryptic gonadotropin-releasing hormone neuronal system of human basal ganglia

K Skrapits , M Sarvari , I Farkas , B Gocz , S Takacs , E Rumpler , V Vaczi , C Vastagh , G Racz , A Matolcsy , N Solymosi , S Poliska , B Toth , F Erdelyi , G Szabo , MD Culler , C Allet , L Cotellessa , V Prevot , P Giacobini , E Hrabovszky

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...
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ey0017.5-12 | Advances in Skeletal Biology | ESPEYB17

5.12. Lipid availability determines fate of skeletal progenitor cells via SOX9

N van Gastel , S Stegen , G Eelen , S Schoors , A Carlier , VW Daniels , N Baryawno , D Przybylski , M Depypere , PJ Stiers , D Lambrechts , R Van Looveren , S Torrekens , A Sharda , P Agostinis , D Lambrechts , F Maes , JV Swinnen , L Geris , H Van Oosterwyck , B Thienpont , P Carmeliet , DT Scadden , G Carmeliet

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...
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ey0016.14-9 | (1) | ESPEYB16

14.9. Did our species evolve in subdivided populations across Africa, and Why does it matter?

Scerri Eleanor M.L. , Thomas Mark G. , Manica Andrea , Gunz Philipp , Stock Jay T. , Stringer Chris , Grove Matt , Groucutt Huw S. , Timmermann Axel , Rightmire G. Philip , d'Errico Francesco , Tryon Christian A. , Drake Nick A. , Brooks Alison S. , Dennell Robin W. , Durbin Richard , Henn Brenna M. , Lee-Thorp Julia , deMenocal Peter , Petraglia Michael D. , Thompson Jessica C. , Scally Aylwyn , Chikhi Lounes

To read the full abstract: Trends in Ecology & Evolution, 2018. 33 (8); 582–594.This opinion piece argues that Homo sapiens evolved within interlinked groups living across Africa, and not in a single region of East Africa. Millennia of separation gave rise to diversity of human forms, and a complex mix of archaic and modern features in different places and...
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ey0016.14-12 | (1) | ESPEYB16

14.12. Genome amplification and cellular senescence are hallmarks of human placenta development

P Velicky , G Meinhardt , K Plessl , S Vondra , T Weiss , P Haslinger , T Lendl , K Aumayr , M Mairhofer , X Zhu , B Schutz , RL Hannibal , R Lindau , B Weil , J Ernerudh , J Neesen , G Egger , M Mikula , C Rohrl , AE Urban , J Baker , M Knofler , J Pollheimer

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...
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ey0015.7-10 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

J Bouilly , A Messina , G Papadakis , D Cassatella , C Xu , JS Acierno , B Tata , G Sykiotis , S Santini , Y Sidis , E Elowe-Gruau , F Phan-Hug , M Hauschild , PM Bouloux , R Quinton , M Lang-Muritano , L Favre , L Marino , P Giacobini , AA Dwyer , NJ Niederländer , N Pitteloud

To read the full abstract: Hum Mol Genet. 2018 Jan 15;27(2):359-372See comment on 7.11...
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ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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