Rare Diseases

Current bibliography for experts

"Irritabl Bağırsak Sendromu" search results...

CSID

Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking

2022-11-01

This study provides novel insights into the potential role of heterozygosity in the pathophysiology of congenital sucrase-isomaltase deficiency and irritable bowel syndrome.

CSID

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome

2020-12-22

In genetic screening of IBS patients, it is discovered that rare sucrase-isomaltase (SI) gene variants are associated with IBS. The findings of this article emphasize the importance of screening for SI mutations in IBS patients and considering enzyme replacement therapy as an appropriate treatment option, similar to CSID.

CSID

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients

2018-10-01

This study aims to determine if (dys-)functional SI variants which causes CSID, are associated with IBS risk. The results provide further evidence about the association of rare functionally deleterious SI variations and IBS susceptibility. Further study is needed on the SI rare pathogenic variant (SI-RPV) prevalence in IBS patients.

CSID

Functional variants in the sucrase isomaltase gene associate with increased risk of irritable bowel syndrome

2018-02-01

In this study, sucrase–isomaltase (SI) gene variants were investigated for their potential role in IBS. It has been found that SI gene variants encoding disaccharidases with reduced enzymatic activity predispose to IBS.

News and Events

ASHG 2025

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Gene2info provides genetic diagnoce service for 23 of rare diseases

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