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12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

Y-Y Zhang , Z-Y Fu , J Wei , W Qi , G Baituola , J Luo , Y-J Meng , S-Y Guo , H Yin , S-Y Jiang , Y-F Li , H-H Miao , Y Liu , Y Wang , B-L Li , Y-T Ma , B-L Song

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

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ey0020.3-12 | Translational Highlights | ESPEYB20

3.12. Impaired bone strength and bone microstructure in a novel early-onset osteoporotic rat model with a clinically relevant PLS3 mutation

J Hu , B Zhou , X Lin , Q Zhang , F Guan , L Sun , J Liu , O Wang , Y Jiang , WB Xia , X Xing , M Li

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

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ey0016.15-13 | (1) | ESPEYB16

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang , J Li , JB Saucier , Y Feng , Y Jiang , J Sinson , AK McCombs , ES Schmitt , S Peacock , S Chen , H Dai , X Ge , G Wang , CA Shaw , H Mei , A Breman , F Xia , Y Yang , A Purgason , A Pourpak , Z Chen , X Wang , Y Wang , S Kulkarni , KW Choy , RJ Wapner , IB Van den Veyver , A Beaudet , S Parmar , LJ Wong , CM Eng

To read the full abstract: Nat Med. 2019 Mar;25(3):439447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...

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ey0020.3-16 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.16. A saturated map of common genetic variants associated with human height

L Yengo , S Vedantam , E Marouli , J Sidorenko , E Bartell , S Sakaue , M Graff , AU Eliasen , Y Jiang , S Raghavan , J Miao , JD Arias , SE Graham , RE Mukamel , CN Spracklen , X Yin , SH Chen , T Ferreira , HH Highland , Y Ji , T Karaderi , K Lin , K Lull , DE Malden , C Medina-Gomez , M …(See abstract for full author list) Machado

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...

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ey0020.10-8 | New Drugs for Children with T2DM | ESPEYB20

10.8. Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial

DS Feig , JJ Sanchez , KE Murphy , E Asztalos , B Zinman , D Simmons , AM Haqq , IG Fantus , L Lipscombe , A Armson , J Barrett , L Donovan , P Karanicolas , S Tobin , K Mangoff , G Klein , Y Jiang , G Tomlinson , J Hamilton , MiTy Kids Collaborative Group Hamilton

Brief summary: MiTy Kids is a prospective cohort study of children who were exposed to metformin during pregnancy. At 24 months, no difference was observed between those exposed to metformin and a placebo group, in BMI trajectories, mean BMI Z-score, or mean sum of skinfolds. Among those exposed to metformin, the BMI was higher among males than females.Comment: Metformin is increasingly used during pregnancy in women with T2D, but data on its lo...

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ESPE Yearbook of Paediatric Endocrinology

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

3.12. Impaired bone strength and bone microstructure in a novel early-onset osteoporotic rat model with a clinically relevant PLS3 mutation

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

3.16. A saturated map of common genetic variants associated with human height

10.8. Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial

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