Zongrui Shen

Guangdong Provincial Key Laboratory Of Single Cell And Extracellular Vesicles
Guangzhou, 510515, China

Last Updated: 09/26/2026

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Found 11 publications

Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.

Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.

Journal: Global medical genetics

Published: January 20, 2026

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

Journal: Cellular signalling

Published: November 26, 2025

TEAD4 Drives SKCM Progression Through COL1A2 Transcriptional Activation and Modulation of AKT/mTOR Signalling and Necroptosis-Related Phenotypes.

TEAD4 Drives SKCM Progression Through COL1A2 Transcriptional Activation and Modulation of AKT/mTOR Signalling and Necroptosis-Related Phenotypes.

Journal: Experimental dermatology

Published: April 30, 2025

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.

Journal: Journal of human genetics

Published: April 19, 2025

HLA-A drives diabetic retinopathy pathogenesis: multi-omics integration reveals resveratrol's therapeutic potential via immunomodulation.

HLA-A drives diabetic retinopathy pathogenesis: multi-omics integration reveals resveratrol's therapeutic potential via immunomodulation.

Journal: Journal of translational medicine

Published: February 25, 2025

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.

Journal: Renal failure

Published: June 07, 2024

Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure.

Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure.

Journal: Human genetics

Published: September 28, 2023

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice.

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: August 19, 2023

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.

Journal: International journal of oral science

Published: March 21, 2023

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene.

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene.

Journal: Frontiers in pediatrics

Published: November 08, 2022

Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.

Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.

Journal: International journal of laboratory hematology

Published: March 24, 2021

Showing 1-11 of 11

Last Updated: 09/26/2026