ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 1 results

ey0019.3-9 | New genes | ESPEYB19

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...
0 shares

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more