Xihui Chen

Shaanxi Provincial Key Laboratory Of Clinical Genetics
Xi'an, China

Last Updated: 09/26/2026

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Found 14 publications

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

Journal: Circulation

Published: February 16, 2024

Non-invasive prenatal testing for fetal Ss, Kidd, and CTL2 blood group prediction by multiplex digital droplet PCR.

Non-invasive prenatal testing for fetal Ss, Kidd, and CTL2 blood group prediction by multiplex digital droplet PCR.

Journal: Therapeutic advances in hematology

Published: October 30, 2022

Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.

Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.

Journal: Cell & bioscience

Published: April 23, 2022

Aberrant activation of TGF-β1 induces high bone turnover via Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease.

Aberrant activation of TGF-β1 induces high bone turnover via Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease.

Journal: Frontiers in endocrinology

Published: April 06, 2022

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.

Journal: CNS neuroscience & therapeutics

Published: December 16, 2021

SLC44A2 Frequency, a New TaqMan Real-Time Polymerase Chain Reaction Method for HNA-3A/3B Genotyping, and a New Application of Droplet Digital PCR.

SLC44A2 Frequency, a New TaqMan Real-Time Polymerase Chain Reaction Method for HNA-3A/3B Genotyping, and a New Application of Droplet Digital PCR.

Journal: Frontiers in genetics

Published: October 13, 2021

A Novel Idiopathic Atrial Calcification: Pathologic Manifestations and Potential Mechanism.

A Novel Idiopathic Atrial Calcification: Pathologic Manifestations and Potential Mechanism.

Journal: Frontiers in cardiovascular medicine

Published: October 04, 2021

Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase.

Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase.

Journal: Frontiers in cardiovascular medicine

Published: June 14, 2021

Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.

Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.

Journal: Molecular genetics & genomic medicine

Published: May 06, 2020

Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease

Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 11, 2019

Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities.

Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities.

Journal: Frontiers in genetics

Published: November 12, 2018

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Journal: Molecular genetics & genomic medicine

Published: September 10, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026