ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

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 ...

ey0019.4-12 | New Paradigms | ESPEYB19

4.12. Crk haploinsufficiency is associated with intrauterine growth retardation and severe postnatal growth failure

A Deodati , E Inzaghi , D Germani , F Fausti , S Cianfarani

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...