Jing-yi Xue

Yokohama, Japan

Last Updated: 09/26/2026

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Found 9 publications

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Journal: American journal of human genetics

Published: January 13, 2023

SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.

SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.

Journal: Bone

Published: August 24, 2022

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: May 28, 2021

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.

Journal: Journal of human genetics

Published: October 15, 2020

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Journal: Nature communications

Published: October 01, 2020

Genetic disorders associated with the RANKL/OPG/RANK pathway.

Genetic disorders associated with the RANKL/OPG/RANK pathway.

Journal: Journal of bone and mineral metabolism

Published: July 30, 2020

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

Journal: Journal of human genetics

Published: June 24, 2020

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.

Journal: Stem cell reports

Published: April 30, 2020

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 22, 2018

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Last Updated: 09/26/2026