Abstract Search

ey0016.5-3 | New Therapies and Novel Therapeutic Strategies | ESPEYB16

5.3. ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy

T Khan , KW Sinkevicius , S Vong , A Avakian , MC Leavitt , H Malanson , A Marozsan , KL Askew

Abstract: Dis Model Mech. 2018 Oct 1; 11(10): dmm035691.In brief: Generalized arterial calcification of infancy (GACI) is a severe, rare disease characterized by excessive calcification of large and medium sized arteries caused by homozygous loss-of-function mutations in ENPP1. Here, in Enpp1 deficient mice, treatment with recombinant hu...

0 shares

ey0018.3-5 | Drug induced thyroid disease | ESPEYB18

3.5. Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade

Z Khan , C Hammer , J Carroll , F Di Nucci , SL Acosta , V Maiya , T Bhangale , J Hunkapiller , I Mellman , ML Albert , MI McCarthy , GS Chandler

Nat Commun. 2021 Jun 7;12(1):3355. doi: 10.1038/s41467-021-23661-4.This study describes the interaction of individual genetic variation for autoimmune thyroid disease with risk of thyroid immune related adverse events (irAE) during or after immune checkpoint inhibitor (ICI) treatment for advanced cancer.ICIs are monoclonal antibodies blocking T-cell exhaustion and...

0 shares

ey0016.5-17 | Basic Science - Bone | ESPEYB16

5.17. Coupling of bone resorption and formation by RANKL reverse signalling

Y Ikebuchi , S Aoki , M Honma , M Hayashi , Y Sugamori , M Khan , Y Kariya , G Kato , Y Tabata , JM Penninger , N Udagawa , K Aoki , H Suzuki

Abstract: Nature. 2018 Sep;561(7722):195200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

0 shares

ey0016.14-7 | (1) | ESPEYB16

14.7. A large impact crater beneath Hiawatha Glacier in northwest Greenland

Kjaer Kurt H. , Larsen Nicolaj K. , Binder Tobias , Bjork Anders A. , Eisen Olaf , Fahnestock Mark A. , Funder Svend , Garde Adam A. , Haack Henning , Helm Veit , Houmark-Nielsen Michael , Kjeldsen Kristian K. , Khan Shfaqat A. , Machguth Horst , McDonald Iain , Morlighem Mathieu , Mouginot Jeremie , Paden John D. , Waight Tod E. , Weikusat Christian , Willerslev Eske , MacGregor Joseph A.

To read the full abstract: Sci Adv. 2018 Nov 14;4(11):eaar8173The discovery of a 31-kilometer-wide impact crater in northwest Greenland, beneath up to a kilometer of ice, implies an instantly vaporizing rock that sent shock waves across the Arctic. Its impact must have had a powerful effect on global climate; a thousand-year global cooling event.You may be...

0 shares

ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

See comment on 11.7...

0 shares

ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

5.3. ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy

3.5. Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade

5.17. Coupling of bone resorption and formation by RANKL reverse signalling

14.7. A large impact crater beneath Hiawatha Glacier in northwest Greenland

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BiosciAbstracts