Rare Diseases

Current bibliography for experts

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FABRY

Dysregulated DNA methylation in the pathogenesis of Fabry disease

2022-09-26

This study provides evidence that α-galactosidase A deficiency and glycosphingolipid storage may affect DNA methylation homeostasis and highlights the importance of epigenetics in the pathogenesis of Fabry disease.

FABRY

Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis

2022-08-30

This study analyses 110 single nucleotide polymorphisms (SNPs) in the proximal promoter of 14 genes that could modify the phenotype of Fabry disease (FD).

FABRY

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant

2022-06-24

According to the data obtained in this study, the DNA methylation of GLA-HNRNPH2 BDP may serve a role in diagnosing and treating Fabry disease (FD).

XLH

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

2022-06-02

This study verified the pathogenicity of the two variants and revealed the possible regulatory mechanism between PHEX and FGF23.

FABRY

DNA methylation impact on Fabry disease

2021-02-02

Methylation analyses of GLA gene may provide epigenetic signatures to predict whether pre-symptomatic female carriers will develop symptoms thus helping timely interventions.

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