ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 8 of about 478 results

ey0019.9-7 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

Rossi G. , Kicinski M. , Suciu S. , Vandecruys E. , Plat G. , Uyttebroeck A. , Paillard C. , Barbati M. , Dresse M.F. , Simon P. , Minckes O. , Pluchart C. , Ferster A. , Freycon C. , Millot F. , van der Werfften Bosch J. , Chantrain C. , Paulus R. , de Rojas T. , de Schaetzen G. , Rohrlich P. , Benoit Y. , Piette C.

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Children’s Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 44–53. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...
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ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...
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ey0020.6-1 | Mechanism of the Year | ESPEYB20

6.1. Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice

D Dufour , T Dumontet , I Sahut-Barnola , A Carusi , M Onzon , E Pussard , JJ Wilmouth , J Olabe , C Lucas , A Levasseur , C Damon-Soubeyrand , JC Pointud , F Roucher-Boulez , I Tauveron , G Bossis , ET Yeh , DT Breault , P Val , AM Lefrancois-Martinez , A Martinez

Brief summary: This study investigates the role of SUMOylation in adrenal development and functionThe murine adrenal cortex is a constantly self-renewed endocrine organ composed of concentric zones, including the outermost zona glomerulosa (zG) producing mineralocorticoids and the innermost zona fasciculata (zF) producing glucocorticoids. According to the centripetal migration model occurring during postnatal development, progenitor cell populations loca...
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ey0018.7-1 | Clinical Guidance | ESPEYB18

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

D Helvacıoğlu , S Demircioğlu Turan , T Guran , Z Atay , A Dağcınar , D Bezen , E Karakılıc Ozturan , F Darendeliler , A Yuksel , F Dursun , S Kılınc , S Semiz , S Abalı , M Yıldız , A Onder , A Bereket

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...
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ey0018.14-11 | (1) | ESPEYB18

14.11. Ageing hallmarks exhibit organ-specific temporal signatures

Schaum Nicholas , Lehallier Benoit , Hahn Oliver , Palovics Robert , Hosseinzadeh Shayan , Lee Song E , Sit Rene , Lee Davis P , Losada Patricia Moran , Zardeneta Macy E , Fehlmann Tobias , Webber James T , McGeever Aaron , Calcuttawala Kruti , Zhang Hui , Berdnik Daniela , Mathur Vidhu , Tan Weilun , Zee Alexander , Tan Michelle , The Tabula Muris Consortium , Pisco Angela Oliveira , Karkanias Jim , Neff Norma F , Keller Andreas , Darmanis Spyros , Quake Stephen R , Wyss-Coray Tony

Nature 2020; 583: 596–602https://www.nature.com/articles/s41586-020-2499-yIn order to understand the cellular processes that underlie ageing, the authors performed plasma proteomics at 10 different ages across the lifespan of the mouse. They integrated these data with a parallel large study published alongside this paper in the same edition (1), which describes the ‘Mouse ...
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ey0019.12-13 | Hyperlipidemia | ESPEYB19

12.13. Vaccine targeting ANGPTL3 ameliorates dyslipidemia and associated diseases in mouse models of obese dyslipidemia and familial hypercholesterolemia

Y Fukami H, Morinaga J, Nakagami H, Hayashi H, Okadome Y, Matsunaga E, Kadomatsu T, Horiguchi H, Sato M, Sugizaki T, Kuwabara T, Miyata K, Mukoyama M, Morishita R, Oike

Reports Medicine 2021;2(11):100446. doi: 10.1016/j.xcrm.2021.100446Brief Summary: This mouse study validated a novel, safe treatment with ANGPTL3 peptide vaccine. It was effective to improve obesity-induced dyslipidemia and fatty liver in mice, and also improved dyslipidemia and atherosclerosis in a mouse model of familial hypercholesterolemia, with no reported toxicity.<p class="abste...
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ey0018.1-10 | Genetics | ESPEYB18

1.10. MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia

K Matsuno , S Nagashima , I Shiiba , K Taniwaka , K Takeda , T Tokuyama , N Ito , N Matsushita , T Fukuda , S Ishido , R Inatome , S Yanagi

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...
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ey0018.3-15 | Thyroid Cancer | ESPEYB18

3.15. Lymph node metastasis prediction of papillary thyroid carcinoma based on transfer learning radiomics

J Yu , Y Deng , T Liu , J Zhou , X Jia , T Xiao , S Zhou , J Li , Y Guo , Y Wang , J Zhou , C Chang

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...
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ey0019.3-10 | New genes | ESPEYB19

3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

S Narumi , R Opitz , K Nagasaki , K Muroya , Y Asakura , M Adachi , K Abe , C Sugisawa , P Kuhnen , T Ishii , MM Nothen , H Krude , T Hasegawa

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...
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ey0017.1-6 | Hypopituitarism: Disease Modeling and New Discoveries | ESPEYB17

1.6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

R Matsumoto , H Suga , T Aoi , H Bando , H Fukuoka , G Iguchi , S Narumi , T Hasegawa , K Muguruma , W Ogawa , Y Takahashi

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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