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The IgSF cell adhesion protein CLMP and congenital short bowel syndrome (CSBS)

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Item Type:Review
Title:The IgSF cell adhesion protein CLMP and congenital short bowel syndrome (CSBS)
Creators Name:Rathjen, F.G. and Jüttner, R.
Abstract:The immunoglobulin-like cell adhesion molecule CLMP is a member of the CAR family of cell adhesion proteins and is implicated in human congenital short-bowel syndrome (CSBS). CSBS is a rare but very severe disease for which no cure is currently available. In this review, we compare data from human CSBS patients and a mouse knockout model. These data indicate that CSBS is characterized by a defect in intestinal elongation during embryonic development and impaired peristalsis. The latter is driven by uncoordinated calcium signaling via gap junctions, which is linked to a reduction in connexin43 and 45 levels in the circumferential smooth muscle layer of the intestine. Furthermore, we discuss how mutations in the CLMP gene affect other organs and tissues, including the ureter. Here, the absence of CLMP produces a severe bilateral hydronephrosis—also caused by a reduced level of connexin43 and associated uncoordinated calcium signaling via gap junctions.
Keywords:CSBS, CLMP, Intestine, Malrotation, Smooth Muscle Cells, Cell Adhesion, Filamin A, Animals, Mice
Source:International Journal of Molecular Sciences
ISSN:1422-0067
Publisher:MDPI
Volume:24
Number:6
Page Range:5719
Date:16 March 2023
Official Publication:https://doi.org/10.3390/ijms24065719
PubMed:View item in PubMed

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