Rui-meng Yang

160 Pujian Road
Shanghai, 200127, China

Last Updated: 09/26/2026

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Found 15 publications

First large-scale screening of Notch biallelic variants implicates novel candidate genes in congenital hypothyroidism.

First large-scale screening of Notch biallelic variants implicates novel candidate genes in congenital hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 05, 2026

Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.

Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.

Journal: Thyroid : official journal of the American Thyroid Association

Published: September 08, 2025

Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.

Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.

Journal: Thyroid : official journal of the American Thyroid Association

Published: January 06, 2024

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

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

Journal: Annals of laboratory medicine

Published: August 29, 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

Myeloid cells interact with a subset of thyrocytes to promote their migration and follicle formation through NF-κB.

Myeloid cells interact with a subset of thyrocytes to promote their migration and follicle formation through NF-κB.

Journal: Nature communications

Published: June 15, 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

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

Showing 1-12 of 15

Last Updated: 09/26/2026