New genes

3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

RM Yang , M Zhan , QY Zhou , XP Ye , FY Wu , M Dong , F Sun , Y Fang , RJ Zhang , CR Zhang , L Yang , MM Guo , JX Zhang , J Liang , F Cheng , W Liu , B Han , Y Zhou , SX Zhao , HD Song

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

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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 ...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2022

3. Thyroid

3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

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

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