Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies (Q38381588)

2 September 2017

1 reference

title

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies (English)

1 reference

2 September 2017

0 references

Giuseppe Castaldo

0 references

Roberto Berni Canani

0 references

Rosa Bacchetta

1 reference

2 September 2017

Martín G Martín

series ordinal

1 reference

2 September 2017

Olivier Goulet

series ordinal

1 reference

2 September 2017

language of work or name

English

0 references

publication date

17 March 2015

1 reference

Nature Reviews Gastroenterology & Hepatology

2 September 2017

published in

1 reference

2 September 2017

1 reference

2 September 2017

1 reference

2 September 2017

page(s)

293-302

1 reference

Recent progress in congenital diarrheal disorders

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Diarrhea in neonatal intensive care unit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Investigation of chronic diarrhoea in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Loss of syntaxin 3 causes variant microvillus inclusion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Congenital diarrheal disorders: an updated diagnostic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Receptor guanylyl cyclase C (GC-C): regulation and signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

CFTR chloride channel in the apical compartments: spatiotemporal coupling to its interacting partners

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

DGAT1 mutation is linked to a congenital diarrheal disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Absence of cell-surface EpCAM in congenital tufting enteropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Rfx6 directs islet formation and insulin production in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Arx is required for normal enteroendocrine cell development in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Mutant neurogenin-3 in congenital malabsorptive diarrhea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Pancreas and beta-cell development: from the actual to the possible

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Transcriptional regulatory factor X6 (Rfx6) increases gastric inhibitory polypeptide (GIP) expression in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

CD4⁺ T cells from IPEX patients convert into functional and stable regulatory T cells by FOXP3 gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Severe Gastritis in an Insulin-dependent Child With an IPEX Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Immunological Outcome in Haploidentical-HSC Transplanted Patients Treated with IL-10-Anergized Donor T Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Molecular diagnostics: between chips and customized medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Organogenesis in a dish: modeling development and disease using organoid technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Gene/cell therapy approaches for Immune Dysregulation Polyendocrinopathy Enteropathy X-linked syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Modularized CRISPR/dCas9 effector toolkit for target-specific gene regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Bile acid diarrhoea and FGF19: new views on diagnosis, pathogenesis and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2015.44

Human myosin-Vc is a novel class V myosin expressed in epithelial cells

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRGASTRO.2015.44

1 reference

2 September 2017

1 reference