Publication

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

Overeem, A. W., Posovszky, C., Rings, E. H. M. M., Giepmans, B. N. G. & van IJzendoorn, S. C. D., 1-Jan-2016, In : Disease models & mechanisms. 9, 1, p. 1-12 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Overeem, A. W., Posovszky, C., Rings, E. H. M. M., Giepmans, B. N. G., & van IJzendoorn, S. C. D. (2016). The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. Disease models & mechanisms, 9(1), 1-12. https://doi.org/10.1242/dmm.022269

Author

Overeem, Arend W. ; Posovszky, Carsten ; Rings, Edmond H. M. M. ; Giepmans, Ben N. G. ; van IJzendoorn, Sven C. D. / The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. In: Disease models & mechanisms. 2016 ; Vol. 9, No. 1. pp. 1-12.

Harvard

Overeem, AW, Posovszky, C, Rings, EHMM, Giepmans, BNG & van IJzendoorn, SCD 2016, 'The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders', Disease models & mechanisms, vol. 9, no. 1, pp. 1-12. https://doi.org/10.1242/dmm.022269

Standard

The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. / Overeem, Arend W.; Posovszky, Carsten; Rings, Edmond H. M. M.; Giepmans, Ben N. G.; van IJzendoorn, Sven C. D.

In: Disease models & mechanisms, Vol. 9, No. 1, 01.01.2016, p. 1-12.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Overeem AW, Posovszky C, Rings EHMM, Giepmans BNG, van IJzendoorn SCD. The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. Disease models & mechanisms. 2016 Jan 1;9(1):1-12. https://doi.org/10.1242/dmm.022269


BibTeX

@article{78e8c83df7bd47fabfc475752d67d31f,
title = "The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders",
abstract = "Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.",
author = "Overeem, {Arend W.} and Carsten Posovszky and Rings, {Edmond H. M. M.} and Giepmans, {Ben N. G.} and {van IJzendoorn}, {Sven C. D.}",
note = "{\circledC} 2016. Published by The Company of Biologists Ltd.",
year = "2016",
month = "1",
day = "1",
doi = "10.1242/dmm.022269",
language = "English",
volume = "9",
pages = "1--12",
journal = "Disease models & mechanisms",
issn = "1754-8403",
publisher = "COMPANY OF BIOLOGISTS LTD",
number = "1",

}

RIS

TY - JOUR

T1 - The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders

AU - Overeem, Arend W.

AU - Posovszky, Carsten

AU - Rings, Edmond H. M. M.

AU - Giepmans, Ben N. G.

AU - van IJzendoorn, Sven C. D.

N1 - © 2016. Published by The Company of Biologists Ltd.

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.

AB - Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.

U2 - 10.1242/dmm.022269

DO - 10.1242/dmm.022269

M3 - Article

VL - 9

SP - 1

EP - 12

JO - Disease models & mechanisms

JF - Disease models & mechanisms

SN - 1754-8403

IS - 1

ER -

ID: 28475158