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Article

Integrative Genomic and Transcriptomic Analysis Reveals Hypothesis-Generating Candidate Genes for Nephrolithiasis Susceptibility in Primary Hyperoxaluria.

Nephrology (Carlton, Vic.) - 1 Oct 2026

Li Yan, Li Yang, Zhang Jing, Lin Xueyan, Lv Jing, Yang Xinyu, Han Jing, Lu Wanhong, Wang Tingzhong

Abstract excerpt

AIM: Primary hyperoxaluria (PH) represents a rare genetic disorder characterised by incompletely elucidated causative genes and limited therapeutic options. This study aims to identify PH-associated genetic variants and potential drug targets. METHODS: We performed exon sequencing of eight PH patients to find PH-related mutant genes, and used the PH rat model to explore differentially expressed genes related to...

Read the complete abstract on PubMed

Topics

Humans
Hyperoxaluria, Primary
Animals
Genetic Predisposition to Disease
Female
Nephrolithiasis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Exome Sequencing

Mutation

Phenotype

Gene Expression Profiling

Rats

Disease Models, Animal

Child

Child, Preschool

Transcriptome

DNA Mutational Analysis

Genomics

Source

Identifiers

PMID: 42775502
DOI: 10.1111/nep.70279

Genes

AGXT
PEX1
GRHPR
HOGA1
MAF
PTH
SON

Provenance

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