Yixuan Cao

State Key Laboratory Of Complex, Peking Union Medical College Hospital
Beijing, China

Last Updated: 09/26/2026

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Found 16 publications

K9 Hotspot Variant Disrupts Keratin Organization and Impairs NRF2-Mediated Oxidative Stress Regulation.

K9 Hotspot Variant Disrupts Keratin Organization and Impairs NRF2-Mediated Oxidative Stress Regulation.

Journal: The Journal of investigative dermatology

Published: June 27, 2025

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.

Journal: Genes

Published: February 21, 2025

A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene Therapy.

A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene Therapy.

Journal: Human mutation

Published: November 18, 2024

Genetic analysis of two families with Short-rib thoracic dysplasia type 3

Genetic analysis of two families with Short-rib thoracic dysplasia type 3

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

Published: October 31, 2023

New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.

New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.

Journal: BMC medical genomics

Published: September 04, 2023

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Journal: Pain

Published: September 04, 2023

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Journal: Bone research

Published: April 24, 2023

Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract.

Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract.

Journal: Frontiers in genetics

Published: November 22, 2022

CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells.

CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells.

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

Published: August 09, 2022

Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.

Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.

Journal: Molecular genetics & genomic medicine

Published: November 16, 2021

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

Journal: BMC medical genomics

Published: May 21, 2021

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Journal: Frontiers in genetics

Published: October 31, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026