The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders

Rab11a regulates syntaxin 3 localization and microvillus assembly in enterocytes

(2015) B. C. Knowles et al.   JOURNAL OF CELL SCIENCE

Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease

(2015) Daniel S. Levic et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Correlated light and electron microscopy: ultrastructure lights up!

(2015) Pascal de Boer et al.   NATURE METHODS

Mechanisms of apical–basal axis orientation and epithelial lumen positioning

(2015) Arend W. Overeem et al.   TRENDS IN CELL BIOLOGY

Myo5b knockout mice as a model of microvillus inclusion disease

(2015) Fernando Cartón-García et al.   Scientific Reports

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

(2014) Dmitri Kravtsov et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Intravital correlated microscopy reveals differential macrophage and microglial dynamics during resolution of neuroinflammation

(2014) T. J. van Ham et al.   Disease Models & Mechanisms

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

(2014) Caroline L. Wiegerinck et al.   GASTROENTEROLOGY

Could a Swimming Creature Inform Us on Intestinal Diseases? Lessons from Zebrafish

(2014) Ye Yang et al.   INFLAMMATORY BOWEL DISEASES

Shaping the intestinal brush border

(2014) Scott W. Crawley et al.   JOURNAL OF CELL BIOLOGY

Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes

(2014) H. S. Dhekne et al.   JOURNAL OF CELL SCIENCE

Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease

(2014) Byron C. Knowles et al.   JOURNAL OF CLINICAL INVESTIGATION

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

(2014) Jochen Kammermeier et al.   JOURNAL OF MEDICAL GENETICS

An in vivo model of human small intestine using pluripotent stem cells

(2014) Carey L Watson et al.   NATURE MEDICINE

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

(2014) Nicolas Faller et al.   PLoS One

Myosin Vb Mediated Plasma Membrane Homeostasis Regulates Peridermal Cell Size and Maintains Tissue Homeostasis in the Zebrafish Epidermis

(2014) Sonal et al.   PLoS Genetics

Cdc42 Coordinates Proliferation, Polarity, Migration, and Differentiation of Small Intestinal Epithelial Cells in Mice

(2013) Jaime Melendez et al.   GASTROENTEROLOGY

Absence of cell-surface EpCAM in congenital tufting enteropathy

(2013) Ulrike Schnell et al.   HUMAN MOLECULAR GENETICS

An Overview and Online Registry of Microvillus Inclusion Disease Patients and theirMYO5BMutations

(2013) K. Joeri van der Velde et al.   HUMAN MUTATION

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

(2013) Amélie E. Bigorgne et al.   JOURNAL OF CLINICAL INVESTIGATION

Crumbs3 Is Essential for Proper Epithelial Development and Viability

(2013) E. L. Whiteman et al.   MOLECULAR AND CELLULAR BIOLOGY

Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due toSTXBP2/MUNC18-2mutations

(2013) Polina Stepensky et al.   PEDIATRIC BLOOD & CANCER

Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Traffic and Cell Polarity

(2013) Cornelia E. Thoeni et al.   TRAFFIC

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enterocyte Microvillus-Derived Vesicles Detoxify Bacterial Products and Regulate Epithelial-Microbial Interactions

(2012) David A. Shifrin et al.   CURRENT BIOLOGY

Cdc42 and Rab8a are critical for intestinal stem cell division, survival, and differentiation in mice

(2012) Ryotaro Sakamori et al.   JOURNAL OF CLINICAL INVESTIGATION

DGAT1 mutation is linked to a congenital diarrheal disorder

(2012) Joel T. Haas et al.   JOURNAL OF CLINICAL INVESTIGATION

Caenorhabditis elegans screen reveals role of PAR-5 in RAB-11-recycling endosome positioning and apicobasal cell polarity

(2012) Julia Franziska Winter et al.   NATURE CELL BIOLOGY

Functional engraftment of colon epithelium expanded in vitro from a single adult Lgr5+ stem cell

(2012) Shiro Yui et al.   NATURE MEDICINE

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

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

mTrop1/Epcam Knockout Mice Develop Congenital Tufting Enteropathy through Dysregulation of Intestinal E-cadherin/β-catenin

(2012) Emanuela Guerra et al.   PLoS One

Expression of Sar1b Enhances Chylomicron Assembly and Key Components of the Coat Protein Complex II System Driving Vesicle Budding

(2011) Emile Levy et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Update on SLC26A3 mutations in congenital chloride diarrhea

(2011) Satu Wedenoja et al.   HUMAN MUTATION

Microvillous Inclusion Disease: How to Improve the Prognosis of a Severe Congenital Enterocyte Disorder

(2011) Ugur Halac et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

(2011) Julie Lemale et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease

(2011) Agata M Szperl et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

MYO5B Mutations in Patients With Microvillus Inclusion Disease Presenting With Transient Renal Fanconi Syndrome

(2011) Magdalena R. Golachowska et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Epithelial Barriers in Homeostasis and Disease

(2010) Amanda M. Marchiando et al.   Annual Review of Pathology-Mechanisms of Disease

The Biogenesis of Chylomicrons

(2010) Charles M. Mansbach et al.   Annual Review of Physiology

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

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

(2010) Frank M. Ruemmele et al.   HUMAN MUTATION

Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro

(2010) Jason R. Spence et al.   NATURE

A molecular network for de novo generation of the apical surface and lumen

(2010) David M. Bryant et al.   NATURE CELL BIOLOGY

Membrane-anchored serine protease matriptase regulates epithelial barrier formation and permeability in the intestine

(2010) M. S. Buzza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recycling endosomes in apical plasma membrane domain formation and epithelial cell polarity

(2010) Magdalena R. Golachowska et al.   TRENDS IN CELL BIOLOGY

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

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

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of cell surface protease matriptase by HAI2 is essential for placental development, neural tube closure and embryonic survival in mice

(2009) R. Szabo et al.   DEVELOPMENT

Apical Secretion in Epithelial Tubes of the Drosophila Embryo Is Directed by the Formin-Family Protein Diaphanous

(2009) R'ada Massarwa et al.   DEVELOPMENTAL CELL

Impaired Trafficking and Subcellular Localization of a Mutant Lactase Associated With Congenital Lactase Deficiency

(2009) Marc Behrendt et al.   GASTROENTEROLOGY

Apical trafficking in epithelial cells: signals, clusters and motors

(2009) O. A. Weisz et al.   JOURNAL OF CELL SCIENCE

Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche

(2009) Toshiro Sato et al.   NATURE

The Epithelial Cell Adhesion Molecule EpCAM Is Required for Epithelial Morphogenesis and Integrity during Zebrafish Epiboly and Skin Development

(2009) Krasimir Slanchev et al.   PLoS Genetics

Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

(2008) Mamata Sivagnanam et al.   GASTROENTEROLOGY

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

(2008) Thomas Müller et al.   NATURE GENETICS

Syndromic (phenotypic) diarrhea in early infancy

(2008) Olivier Goulet et al.   Orphanet Journal of Rare Diseases