ISSN 1662-4009 (online)

ey0017.6-7 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

K Hamanaka , A Takata , Y Uchiyama , S Miyatake , N Miyake , S Mitsuhashi , K Iwama , A Fujita , E Imagawa , AN Alkanaq , E Koshimizu , Y Azuma , M Nakashima , T Mizuguchi , H Saitsu , Y Wada , S Minami , Y Katoh-Fukui , Y Masunaga , M Fukami , T Hasegawa , T Ogata , N Matsumoto

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

ey0019.3-10 | New genes | ESPEYB19

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 ...

ey0017.1-6 | Hypopituitarism: Disease Modeling and New Discoveries | ESPEYB17

1.6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

R Matsumoto , H Suga , T Aoi , H Bando , H Fukuoka , G Iguchi , S Narumi , T Hasegawa , K Muguruma , W Ogawa , Y Takahashi

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

ey0016.5-19 | Basic Science - Mineral Metabolism | ESPEYB16

5.19. Eldecalcitol causes FGF23 resistance for Pi reabsorption and improves rachitic bone phenotypes in the male Hyp mouse

I Kaneko , H Segawa , K Ikuta , A Hanazaki , T Fujii , S Tatsumi , S Kido , T Hasegawa , N Amizuka , H Saito , KI Miyamoto

Abstract: Endocrinology, Volume 159, Issue 7, July 2018, Pages 2741–2758In brief: Eldecalcitol, a long acting active vitamin D3 analogue with lower affinity for vitamin D receptor and resistance to inactivation by vitamin D 24-hydroxylase, causes FGF23 resistance. This leads to complete restoration of renal phosphate transport and NaPi-2a protein levels and improves ra...