Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. (Q40463272)

29 June 2018

title

Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. (English)

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29 June 2018

author

Paolo Usai-Satta

20

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29 June 2018

Tenghao Zheng

Tenghao Zheng

8

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Ferdinando Bonfiglio

Ferdinando Bonfiglio

3

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Massimo Bellini

Massimo Bellini

36

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Michael Camilleri

40

Michael Camilleri

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29 June 2018

31

Anna Andreasson

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29 June 2018

13

Ottmar Distl

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29 June 2018

24

Magnus Simrén

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29 June 2018

Andre Franke

41

Andre Franke

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29 June 2018

Lars Engstrand

34

Lars Engstrand

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29 June 2018

Joseph Rafter

17

Joseph Rafter

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29 June 2018

28

Greger Lindberg

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29 June 2018

15

Meriem Belheouane

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29 June 2018

Maria Henström

1

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29 June 2018

Lena Diekmann

2

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29 June 2018

Fatemeh Hadizadeh

4

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29 June 2018

Eva-Maria Kuech

5

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29 June 2018

Maren von Köckritz-Blickwede

6

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Louise B Thingholm

7

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Ghazaleh Assadi

9

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Claudia Dierks

10

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Martin Heine

11

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Ute Philipp

12

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Mary E Money

14

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29 June 2018

Femke-Anouska Heinsen

16

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Gerardo Nardone

18

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29 June 2018

Francesca Galeazzi

21

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29 June 2018

Matteo Neri

22

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Susanna Walter

23

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29 June 2018

Pontus Karling

25

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29 June 2018

Bodil Ohlsson

26

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29 June 2018

Peter T Schmidt

27

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29 June 2018

Aldona Dlugosz

29

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29 June 2018

Lars Agreus

30

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Emeran Mayer

32

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John F Baines

33

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29 June 2018

Piero Portincasa

35

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29 June 2018

Vincenzo Stanghellini

37

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29 June 2018

Giovanni Barbara

38

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29 June 2018

Lin Chang

39

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29 June 2018

Hassan Y Naim

42

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29 June 2018

language of work or name

English

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publication date

21 November 2016

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29 June 2018

published in

Gut

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29 June 2018

volume

67

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29 June 2018

page(s)

263-270

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29 June 2018

issue

2

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29 June 2018

The global prevalence of IBS in adults remains elusive due to the heterogeneity of studies: a Rome Foundation working team literature review

cites work

1 reference

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Lessons learned--resolving the enigma of genetic factors in IBS.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

The relationship between faecal-associated and mucosal-associated microbiota in irritable bowel syndrome patients and healthy subjects

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Catecholaminergic Gene Polymorphisms Are Associated with GI Symptoms and Morphological Brain Changes in Irritable Bowel Syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Diet low in FODMAPs reduces symptoms of irritable bowel syndrome as well as traditional dietary advice: a randomized controlled trial

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Sensitivity to wheat, gluten and FODMAPs in IBS: facts or fiction?

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Food components and irritable bowel syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

A general framework for estimating the relative pathogenicity of human genetic variants

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Identification of a functional TPH1 polymorphism associated with irritable bowel syndrome bowel habit subtypes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Carbohydrates and the human gut microbiota

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Four Mutations in the SI Gene Are Responsible for the Majority of Clinical Symptoms of CSID

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Peripheral mechanisms in irritable bowel syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Pilot study: a randomised, double blind, placebo controlled trial of pancrealipase for the treatment of postprandial irritable bowel syndrome-diarrhoea

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Linking long-term dietary patterns with gut microbial enterotypes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Association of TNFSF15 polymorphism with irritable bowel syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Ulcerative colitis and irritable bowel patients exhibit distinct abnormalities of the gut microbiota.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

The functional gastrointestinal disorders and the Rome III process

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Pain is temporally related to eating but not to defaecation in the irritable bowel syndrome (IBS). Patients' description of diarrhea, constipation and symptom variation during a prospective 6-week study

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Congenital sucrase-isomaltase deficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Irritable bowel syndrome: a clinical review.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Maltase-glucoamylase modulates gluconeogenesis and sucrase-isomaltase dominates starch digestion glucogenesis

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Self-reported food-related gastrointestinal symptoms in IBS are common and associated with more severe symptoms and reduced quality of life

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Assessment of normal bowel habits in the general adult population: the Popcol study

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

What patients know about irritable bowel syndrome (IBS) and what they would like to know. National Survey on Patient Educational Needs in IBS and development and validation of the Patient Educational Needs Questionnaire (PEQ).

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Disaccharidase activities in dyspeptic children: biochemical and molecular investigations of maltase-glucoamylase activity

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Cloning and expression of human intestinal sucrase-isomaltase

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563477

Onset of sucrase-isomaltase deficiency in late adulthood

20 August 2018

1 reference

12 December 2020

A randomly selected population sample undergoing colonoscopy

1 reference

12 December 2020

Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood

1 reference

12 December 2020

Assay of intestinal disaccharidases

1 reference

12 December 2020

10.1136/GUTJNL-2016-312456

Identifiers

DOI

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29 June 2018

PMCID

5563477

1 reference

29 June 2018

PubMed ID

27872184

1 reference

29 June 2018