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ey0017.1-10 | Clinical Highlights | ESPEYB17

1.10. Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Marques Pedro , Caimari Francisca , Hernandez-Ramirez Laura C. , Collier David , Iacovazzo Donato , Ronaldson Amy , Magid Kesson , Lim Chung Thong , Stals Karen , Ellard Sian , Grossman Ashley B. ,

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 30. pii: dgaa040. doi: 10.1210/clinem/dgaa040. PMID: 31996917.The International FIPA Consortium recommend that aryl hydrocarbon receptor-interacting protein (AIP ) gene mutations are worth screening for prospectively in family members of AIPmut patients, and the detected carriers should be clinically followed. AI...

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ey0021.14-15 | Bone | ESPEYB21

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

Marom Ronit , Zhang Bo , Washington Megan E. , Song I-Wen , Burrage Lindsay C. , Rossi Vittoria C. , Berrier Ava S. , Lindsey Anika , Lesinski Jacob , Nonet Michael L. , Chen Jian , Baldridge Dustin , Silverman Gary A. , Sutton V. Reid , Rosenfeld Jill A. , Tran Alyssa A. , Hicks M. John , Murdock David R. , Dai Hongzheng , Weis MaryAnn , Jhangiani Shalini N. , Muzny Donna M. , Gibbs Richard A. , Caswell Richard , Pottinger Carrie , Cilliers Deirdre , Stals Karen , Undiagnosed Diseases Network , Eyre David , Krakow Deborah , Schedl Tim , Pak Stephen C. , Lee Brendan H.

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...

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ESPE Yearbook of Paediatric Endocrinology

1.10. Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

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