Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
|
27872184 |
2018 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
|
27749612 |
2017 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.
|
27749612 |
2017 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
This novel concept and the existence of mild consequences in a number of SI mutants strongly propose that CSID is an underdiagnosed and a more common intestinal disease than currently known.
|
28062276 |
2017 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The multiple roles of sucrase-isomaltase in the intestinal physiology.
|
26812950 |
2016 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.
|
27579322 |
2016 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
|
23103650 |
2012 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
|
23103650 |
2012 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy.
|
19680155 |
2009 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
Biomarker
|
disease |
BEFREE |
Congenital sucrase-isomaltase deficiency (CSID) is characterized by absence or deficiency of the mucosal sucrase-isomaltase enzyme.
|
19330928 |
2009 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
|
19121318 |
2009 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
|
19121318 |
2009 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Immunoelectron microscopy of duodenal biopsies showed an isolated SI deficiency in a mosaic pattern [e.g., 42% (14%) crypt enterocytes and 64% (59%) villus enterocytes with decreased amounts of SI on microvilli], whereas lactase and aminopeptidase n (ApN) were present at the apical membrane of all cells in a normal range.
|
18043509 |
2008 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein.
|
16329100 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency.
|
16329100 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein.
|
16329100 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein.
|
16329100 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein.
|
16329100 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The cDNA encoding SI from a patient with CSID reveals a mutation in the isomaltase subunit of SI that results in the substitution of a cysteine by an arginine at amino acid residue 635 (C635R).
|
16543230 |
2006 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Biosynthetic labeling and immunoelectron microscopy reveal a predominant localization of SI in the endoplasmic reticulum (ER) similar to phenotype I of CSID.
|
14724820 |
2003 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency.
|
11340066 |
2001 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
Biomarker
|
disease |
BEFREE |
The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency.
|
11340066 |
2001 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain.
|
10903344 |
2000 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
Biomarker
|
disease |
BEFREE |
We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain.
|
10903344 |
2000 |
Sucrase-isomaltase deficiency, congenital
|
0.790 |
Biomarker
|
disease |
BEFREE |
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
|
8609217 |
1996 |