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14.3. Decreasing body lengths in North Atlantic right whales

Stewart Joshua D , Durban John W , Knowlton Amy R , Lynn Morgan S , Fearnbach Holly , Barbaro Jacob , Perryman Wayne L , Miller Carolyn A , Moore Michael J

Current Biology 2021 May 17;S0960-9822(21)00614-X. doi: https://doi.org/10.1016/j.cub.2021.04.067The North Atlantic right whale (Narwhale, NARW) is a medium-sized toothed whale that lives year-round in the Arctic waters around Greenland, Canada, and Russia. It possesses a large tusk from a protruding canine tooth. NARW born in recent years have experienced stunted growth, and...

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ey0015.3-13 | Thyroid stem cells | ESPEYB15

3.13 Pluripotent stem cell differentiation reveals distinct developmental pathways regulating lung- versus thyroid-lineage specification

M Serra , KD Alysandratos , F Hawkins , KB McCauley , A Jacob , J Choi , IS Caballero , M Vedaie , AA Kurmann , L Ikonomou , AN Hollenberg , JM Shannon , DN Kotton

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...

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ey0016.14-13 | (1) | ESPEYB16

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

To read the full abstract: N Engl J Med 2018;379:21312139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...

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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

5. Bone, Growth Plate and Mineral Metabolism

14.3. Decreasing body lengths in North Atlantic right whales

3.13 Pluripotent stem cell differentiation reveals distinct developmental pathways regulating lung- versus thyroid-lineage specification

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

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

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