Rui-jia Zhang

State Key Laboratory Of Medical Genomics
Shanghai, 200011, China

Last Updated: 09/26/2026

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Found 19 publications

Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 06, 2023

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Journal: Hormone research in paediatrics

Published: March 15, 2023

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Journal: Journal of medical genetics

Published: August 06, 2022

The isl2a transcription factor regulates pituitary development in zebrafish.

The isl2a transcription factor regulates pituitary development in zebrafish.

Journal: Frontiers in endocrinology

Published: April 19, 2022

Tpo knockout in zebrafish partially recapitulates clinical manifestations of congenital hypothyroidism and reveals the involvement of TH in proper development of glucose homeostasis.

Tpo knockout in zebrafish partially recapitulates clinical manifestations of congenital hypothyroidism and reveals the involvement of TH in proper development of glucose homeostasis.

Journal: General and comparative endocrinology

Published: January 27, 2022

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Journal: Journal of clinical research in pediatric endocrinology

Published: September 21, 2021

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

Journal: Clinical genetics

Published: July 21, 2021

Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism.

Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism.

Journal: Endocrinology

Published: February 26, 2021

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 05, 2021

Three-dimensional microscopy and image fusion reconstruction analysis of the thyroid gland during morphogenesis.

Three-dimensional microscopy and image fusion reconstruction analysis of the thyroid gland during morphogenesis.

Journal: FEBS open bio

Published: December 17, 2020

Molecular and clinical genetics of the transcription factor GLIS3 in Chinese congenital hypothyroidism.

Molecular and clinical genetics of the transcription factor GLIS3 in Chinese congenital hypothyroidism.

Journal: Molecular and cellular endocrinology

Published: December 09, 2020

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Journal: Clinical endocrinology

Published: November 27, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026