Rare Diseases

Current bibliography for experts

"Gla Gene" search results...

FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

2025-01-22

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

2023-04-01

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

FABRY

Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept

2022-10-11

The methylation state of specific genes can potentially identify Fabry patients and possibly predict organ involvement and disease evolution.

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

2022-09-01

This paper presents four novel variants found in patients with suspicion of Fabry disease (FD).

FABRY

Pitfalls of X-chromosome inactivation testing in females with Fabry disease

2022-07-01

In this study, it is aimed to determine pitfalls of XCI testing in a cohort of 35 female Fabry disease (FD) patients.

FABRY

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

2022-05-01

Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to Fabry disease.

FABRY

Multidisciplinary Management of Fabry Disease: Current Perspectives

2022-03-10

This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

FABRY

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective

2022-03-01

This consensus statement aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD.

FABRY

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

2021-11-16

Long-read Oxford Nanopore sequencing technology can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.

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