Impaired Intestinal Sodium Transport in Inflammatory Bowel Disease: From the Passenger to the Driver's Seat

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center

(2020) Eileen Crowley et al.   GASTROENTEROLOGY

Pathway paradigms revealed from the genetics of inflammatory bowel disease

(2020) Daniel B. Graham et al.   NATURE

An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea

(2020) Jianxiang Xue et al.   CLINICAL SCIENCE

Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease‐related mutations

(2020) Avipsa Bose et al.   IUBMB LIFE

Altered Gut Archaea Composition and Interaction with Bacteria are Associated with Colorectal Cancer

(2020) Olabisi Oluwabukola Coker et al.   GASTROENTEROLOGY

Enteroendocrine cells couple nutrient sensing to nutrient absorption by regulating ion transport

(2020) Heather A. McCauley et al.   Nature Communications

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene

(2019) Georges Dimitrov et al.   European Journal of Medical Genetics

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis

(2019) Ashish Gupta et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Inflammation-induced Occludin Downregulation Limits Epithelial Apoptosis by Suppressing Caspase 3 Expression

(2019) Wei-Ting Kuo et al.   GASTROENTEROLOGY

The SLC9A-C Mammalian Na+/H+ Exchanger Family: Molecules, Mechanisms, and Physiology

(2019) S. F. Pedersen et al.   PHYSIOLOGICAL REVIEWS

Cyclic nucleotides, gut physiology and inflammation

(2019) Hari Prasad et al.   FEBS Journal

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

(2018) Kristin E. Hirabayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Advances in Evaluation of Chronic Diarrhea in Infants

(2018) Jay R. Thiagarajah et al.   GASTROENTEROLOGY

Absence of Receptor Guanylyl Cyclase C Enhances Ileal Damage and Reduces Cytokine and Antimicrobial Peptide Production during Oral Salmonella enterica Serovar Typhimurium Infection

(2018) Shamik Majumdar et al.   INFECTION AND IMMUNITY

Microbial dysbiosis associated with impaired intestinal Na+/H+ exchange accelerates and exacerbates colitis in ex-germ free mice

(2018) Christy A. Harrison et al.   Mucosal Immunology

Salt in stools is associated with obesity, gut halophilic microbiota and Akkermansia muciniphila depletion in humans

(2018) E. H. Seck et al.   INTERNATIONAL JOURNAL OF OBESITY

Microbial tryptophan catabolites in health and disease

(2018) Henrik M. Roager et al.   Nature Communications

The regulatory role of the kinase-homology domain in receptor guanylyl cyclases: nothing ‘pseudo’ about it!

(2018) Vishwas Mishra et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase

(2018) Lasse Holt-Danborg et al.   HUMAN MOLECULAR GENETICS

Guanylate Cyclase C Activation Shapes the Intestinal Microbiota in Patients with Familial Diarrhea and Increased Susceptibility for Crohnʼs Disease

(2017) Rune R. Tronstad et al.   INFLAMMATORY BOWEL DISEASES

Inflammatory cytokines down-regulate the barrier-protective prostasin-matriptase proteolytic cascade early in experimental colitis

(2017) Marguerite S. Buzza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Salt-responsive gut commensal modulates TH17 axis and disease

(2017) Nicola Wilck et al.   NATURE

Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation

(2017) Irene Vercellino et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ENaC Dysregulation Through Activation of MEK1/2 Contributes to Impaired Na+ Absorption in Lymphocytic Colitis

(2016) Christian Barmeyer et al.   INFLAMMATORY BOWEL DISEASES

Sodium chloride–enriched Diet Enhanced Inflammatory Cytokine Production and Exacerbated Experimental Colitis in Mice

(2016) Ivan Monteleone et al.   Journal of Crohns & Colitis

Congenital Sodium Diarrhea

(2016) Andreas R. Janecke et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Altered cGMP Dynamics at the Plasma Membrane Contribute to Diarrhea in Ulcerative Colitis

(2015) Kavisha Arora et al.   AMERICAN JOURNAL OF PATHOLOGY

Human Clostridium difficile infection: inhibition of NHE3 and microbiota profile

(2015) Melinda A. Engevik et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Congenital secretory diarrhoea caused by activating germline mutations inGUCY2C

(2015) Thomas Müller et al.   GUT

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

(2015) Andreas R. Janecke et al.   HUMAN MOLECULAR GENETICS

Human Enteroids/Colonoids and Intestinal Organoids Functionally Recapitulate Normal Intestinal Physiology and Pathophysiology

(2015) Nicholas C. Zachos et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Secretory diarrhoea: mechanisms and emerging therapies

(2015) Jay R. Thiagarajah et al.   Nature Reviews Gastroenterology & Hepatology

The guanylate cyclase-C signaling pathway is down-regulated in inflammatory bowel disease

(2015) Øystein Brenna et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

Functional Analysis of a Missense Mutation in the Serine Protease Inhibitor SPINT2 Associated with Congenital Sodium Diarrhea

(2014) Nicolas Faller et al.   PLoS One

Intestinal Inhibition of the Na+/H+ Exchanger 3 Prevents Cardiorenal Damage in Rats and Inhibits Na+ Uptake in Humans

(2014) A. G. Spencer et al.   Science Translational Medicine

Reduced colonic microbial diversity is associated with colitis in NHE3-deficient mice

(2013) Claire B. Larmonier et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Loss of NHE3 alters gut microbiota composition and influences Bacteroides thetaiotaomicron growth

(2013) Melinda A. Engevik et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings

(2013) Mordechai A. Slae et al.   CLINICAL DYSMORPHOLOGY

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

(2013) Julie Salomon et al.   HUMAN GENETICS

Intestinal Cell Proliferation and Senescence Are Regulated by Receptor Guanylyl Cyclase C and p21

(2013) Nirmalya Basu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SLC9/NHE gene family, a plasma membrane and organellar family of Na+/H+ exchangers

(2013) Mark Donowitz et al.   MOLECULAR ASPECTS OF MEDICINE

A two-domain elevator mechanism for sodium/proton antiport

(2013) Chiara Lee et al.   NATURE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Traditional and emerging roles for the SLC9 Na+/H+ exchangers

(2013) Daniel G. Fuster et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Functional evaluation of autism-associated mutations in NHE9

(2013) Kalyan C. Kondapalli et al.   Nature Communications

The multiple and enigmatic roles of guanylyl cyclase C in intestinal homeostasis

(2012) Najla Arshad et al.   FEBS LETTERS

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

(2012) Torunn Fiskerstrand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Interactions Between the Microbiota and the Immune System

(2012) L. V. Hooper et al.   SCIENCE

Commensal Bacteroides Species Induce Colitis in Host-Genotype-Specific Fashion in a Mouse Model of Inflammatory Bowel Disease

(2011) Seth M. Bloom et al.   Cell Host & Microbe

Murine Guanylate Cyclase C Regulates Colonic Injury and Inflammation

(2011) K. A. Steinbrecher et al.   JOURNAL OF IMMUNOLOGY

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

(2009) Peter Heinz-Erian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

(2009) Mamata Sivagnanam et al.   CLINICAL DYSMORPHOLOGY

The role of pH in determining the species composition of the human colonic microbiota

(2009) Sylvia H. Duncan et al.   ENVIRONMENTAL MICROBIOLOGY

Changes in Mucosal Homeostasis Predispose NHE3 Knockout Mice to Increased Susceptibility to DSS-Induced Epithelial Injury

(2009) Pawel R. Kiela et al.   GASTROENTEROLOGY

Low counts of Faecalibacterium prausnitzii in colitis microbiota

(2009) H. Sokol et al.   INFLAMMATORY BOWEL DISEASES

Preserved Na+/H+ exchanger isoform 3 expression and localization, but decreased NHE3 function indicate regulatory sodium transport defect in ulcerative colitis†

(2009) Sunil Yeruva et al.   INFLAMMATORY BOWEL DISEASES

The Linker Region in Receptor Guanylyl Cyclases Is a Key Regulatory Module

(2009) Sayanti Saha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Colonic gene expression profile in NHE3-deficient mice: evidence for spontaneous distal colitis

(2008) Daniel Laubitz et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Downregulation of sodium transporters and NHERF proteins in IBD patients and mouse colitis models: Potential contributors to IBD-associated diarrhea

(2008) Sean Sullivan et al.   INFLAMMATORY BOWEL DISEASES