Xianqin Zhang

Key Laboratory Of Molecular Biophysics Of The Ministry Of Education
Wuhan, China

Last Updated: 09/26/2026

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Found 15 publications

Cyclosporine Stabilized the Hemoglobin Level in Children With Novel Compound Heterozygous Mutations in the LIG1 Gene: A Single Case Report.

Cyclosporine Stabilized the Hemoglobin Level in Children With Novel Compound Heterozygous Mutations in the LIG1 Gene: A Single Case Report.

Journal: Pediatric blood & cancer

Published: May 22, 2026

tubb5 knockout in zebrafish causes neurodevelopmental defects via notch pathways.

tubb5 knockout in zebrafish causes neurodevelopmental defects via notch pathways.

Journal: Human molecular genetics

Published: July 23, 2025

Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.

Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.

Journal: Nephrology (Carlton, Vic.)

Published: January 02, 2025

ISG15 regulates auto-inflammation by modulating NF-κB signaling pathway.

ISG15 regulates auto-inflammation by modulating NF-κB signaling pathway.

Journal: Genes & diseases

Published: March 15, 2024

The splicing factor DHX38 enables retinal development through safeguarding genome integrity.

The splicing factor DHX38 enables retinal development through safeguarding genome integrity.

Journal: iScience

Published: June 15, 2023

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation.

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation.

Journal: Frontiers in oncology

Published: January 10, 2023

Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.

Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.

Journal: Neuro-degenerative diseases

Published: December 18, 2021

A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.

A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.

Journal: American journal of medical genetics. Part A

Published: December 09, 2020

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.

Journal: Frontiers in cell and developmental biology

Published: August 05, 2020

Tsga10 is essential for arrangement of mitochondrial sheath and male fertility in mice.

Tsga10 is essential for arrangement of mitochondrial sheath and male fertility in mice.

Journal: Andrology

Published: February 01, 2020

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

Journal: The journal of gene medicine

Published: November 30, 2019

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.

Journal: PloS one

Published: September 04, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026