Han Xiao

Key Laboratory Of Chemical Biology And Molecular Engineering Of National Ministry Of Education
Taiyuan, 030006, China

Last Updated: 09/26/2026

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Found 16 publications

Publisher Correction: TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

Publisher Correction: TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

Journal: Scientific reports

Published: June 03, 2025

TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

Journal: Scientific reports

Published: July 31, 2024

Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.

Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.

Journal: International journal of molecular sciences

Published: January 07, 2022

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.

Journal: International journal of molecular sciences

Published: December 15, 2021

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Journal: International journal of molecular sciences

Published: September 16, 2021

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott-Rallison Syndrome in a Chinese Family.

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott-Rallison Syndrome in a Chinese Family.

Journal: Frontiers in pediatrics

Published: March 12, 2021

A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 20, 2021

WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis.

WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis.

Journal: Frontiers in molecular biosciences

Published: December 24, 2020

Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome

Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome

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

Published: September 14, 2020

Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita

Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita

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

Published: July 15, 2019

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Journal: Molecular genetics & genomic medicine

Published: June 09, 2019

Functional evaluation of a novel GLA causative mutation in Fabry disease.

Functional evaluation of a novel GLA causative mutation in Fabry disease.

Journal: Molecular genetics & genomic medicine

Published: April 01, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026