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3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

S Narumi , R Opitz , K Nagasaki , K Muroya , Y Asakura , M Adachi , K Abe , C Sugisawa , P Kuhnen , T Ishii , MM Nothen , H Krude , T Hasegawa

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

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ey0016.5-8 | Clinical Advances in Treatment | ESPEYB16

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel , FH Glorieux , MP Whyte , CF Munns , LM Ward , O Nilsson , JH Simmons , R Padidela , N Namba , HI Cheong , P Pitukcheewanont , E Sochett , W Hogler , K Muroya , H Tanaka , GS Gottesman , A Biggin , F Perwad , M Mao , CY Chen , A Skrinar , J San Martin , AA Portale

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...

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ESPE Yearbook of Paediatric Endocrinology

3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

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