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ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

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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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ey0018.4-6 | Growth Hormone Therapy: Safety | ESPEYB18

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

L Savendahl , R Cooke , A Tidblad , D Beckers , G Butler , S Cianfarani , P Clayton , J Coste , ACS Hokken-Koelega , W Kiess , CE Kuehni , K Albertsson-Wikland , A Deodati , E Ecosse , R Gausche , C Giacomozzi , D Konrad , F Landier , R Pfaeffle , G Sommer , M Thomas , S Tollerfield , GRJ Zandwijken , JC Carel , AJ Swerdlow

Lancet Diabetes Endocrinol. 2020;8(8):683692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

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ey0018.5-9 | Translational highlights | ESPEYB18

5.9. Articular cartilage regeneration by activated skeletal stem cells

Murphy Matthew P , Koepke Lauren S , Lopez Michael T , Tong Xinming , Ambrosi Thomas H , Gulati Gunsagar S , Marecic Owen , Wang Yuting , Ransom Ryan C , Hoover Malachia Y , Steininger Holly , Zhao Liming , Walkiewicz Marcin P , Quarto Natalina , Levi Benjamin , Wan Derrick C , Weissman Irving L , Goodman Stuart B , Yang Fan , Longaker Michael T , Chan Charles K F

Nat Med. 2020 Oct;26(10):15831592 Abstract: https://pubmed.ncbi.nlm.nih.gov/32807933/In brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...

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ey0018.9-1 | Cancer treatment and the risk of second neoplasia | ESPEYB18

9.1. Risk factors of subsequent central nervous system tumors after childhood and adolescent cancers: findings from the french childhood cancer survivor study

NMY Journy , WS Zrafi , S Bolle , B Fresneau , C Alapetite , RS Allodji , D Berchery , N Haddy , I Kobayashi , M Labbe , H Pacquement , C Pluchart , B Schwartz , V Souchard , C Thomas-Teinturier , C Veres , G Vu-Bezin , I Diallo , F de Vathaire

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...

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ey0018.9-6 | Surveillance strategies of endocrine complications | ESPEYB18

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

R Roshandel , M van Dijk , A Overbeek , G Kaspers , C Lambalk , C Beerendonk , D Bresters , M van der Heiden-van der Loo , M van den Heuvel-Eibrink , L Kremer , J Loonen , H van der Pal , C Ronckers , W Tissing , B Versluys , F van Leeuwen , M van den Berg , E van Dulmen-den Broeder

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

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ey0019.1-7 | Genetics | ESPEYB19

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

L Akin , K Rizzoti , LC Gregory , B Corredor , Quesne Stabej P Le , H Williams , F Buonocore , S Mouilleron , V Capra , SM McGlacken-Byrne , GA Martos-Moreno , DN Azmanov , M Kendirci , S Kurtoglu , JP Suntharalingham , C Galichet , S Gustincich , V Tasic , JC Achermann , A Accogli , A Filipovska , A Tuilpakov , M Maghnie , Z Gucev , ZB Gonen , LA Perez-Jurado , I Robinson , R Lovell-Badge , J Argente , MT Dattani

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

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ey0019.4-11 | New Paradigms | ESPEYB19

4.11. Fine-tuning cardiac insulin-like growth factor 1 receptor signaling to promote health and longevity

M Abdellatif , V Trummer-Herbst , AM Heberle , A Humnig , T Pendl , S Durand , G Cerrato , SJ Hofer , M Islam , J Voglhuber , Pittol JM Ramos , O Kepp , G Hoefler , A Schmidt , PP Rainer , D Scherr , Lewinski D Von , E Bisping , JR McMullen , A Diwan , T Eisenberg , F Madeo , K Thedieck , G Kroemer , S Sedej

Circulation, 2022: Jun 21;145(25):1853-1866 PMID: 35616058Brief Summary: This translational study evaluated cardiac health and lifespan in two cardiomyocyte-specific transgenic mice with either enhanced or reduced IGF-1 signaling and in human cardiac biopsies from failing and nonfailing hearts. Increased IGF1R expression was related to better cardiac performance in young mice but faster decline of cardiac function with aging. Conversely reduced ...

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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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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) Childrens Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 4453. 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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ESPE Yearbook of Paediatric Endocrinology

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

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

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

5.9. Articular cartilage regeneration by activated skeletal stem cells

9.1. Risk factors of subsequent central nervous system tumors after childhood and adolescent cancers: findings from the french childhood cancer survivor study

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

4.11. Fine-tuning cardiac insulin-like growth factor 1 receptor signaling to promote health and longevity

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

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

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