Abstract Search

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

ey0015.8-8 | Important for Clinical Practice | ESPEYB15

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

D Ma , Y Yuan , C Luo , Y Wang , T Jiang , F Guo , J Zhang , C Chen , Y Sun , J Cheng , P Hu , J Wang , H Yang , X Yi , W Wang , Asan , Z Xu

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

BiosciAbstracts