For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
4
views
132
references
 Top references
cited by
13
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      379
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Etiopathogenetic Mechanisms in Diverticular Disease of the Colon

      review-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          This article reviews epidemiological evidence of heritability and putative mechanisms in diverticular disease, with greatest attention to 3 recent studies of genetic associations with diverticular disease based on genome-wide or whole-genome sequencing studies in large patient cohorts. We provide an analysis of the biological plausibility of the significant associations with gene variants reported and highlight the relevance of ANO1, CPI-17 (aka PPP1R14A), COLQ6, COL6A1, CALCB or CALCA, COL6A1, ARHGAP15, and S100A10 to colonic neuromuscular function and tissue properties that may result in altered compliance and predispose to the development of diverticular disease. Such studies also identify candidate genes for future studies.

          Related collections

          Most cited references132

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          Gpr158 mediates osteocalcin’s regulation of cognition

          Lori Khrimian, Arnaud Obri, Mariana Ramos-Brossier … (2017)
          This study by Khrimian et al. demonstrates that the bone-derived hormone osteocalcin is necessary and sufficient to correct age-related cognitive decline in the mouse. It also provides genetic, molecular, and neurophysiological evidence that Gpr158 is the receptor mediating osteocalcin’s regulation of cognition.
          Article 0 comments Cited 107 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease

            James Lee, Daniele Biasci, Rebecca Roberts … (2017)
            James Lee, Kenneth Smith and colleagues report a within-cases genome-wide association analysis for Crohn's disease to identify genetic loci specifically associated with disease severity and outcome. They find four loci associated with prognosis, none of which is associated with susceptibility to Crohn's disease.
            Article 0 comments Cited 107 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              The collagen VI-related myopathies: muscle meets its matrix.

              Carsten Bönnemann (2011)
              The collagen VI-related myopathy known as Ullrich congenital muscular dystrophy is an early-onset disease that combines substantial muscle weakness with striking joint laxity and progressive contractures. Patients might learn to walk in early childhood; however, this ability is subsequently lost, concomitant with the development of frequent nocturnal respiratory failure. Patients with intermediate phenotypes of collagen VI-related myopathy display a lesser degree of weakness and a longer period of ambulation than do individuals with Ullrich congenital muscular dystrophy, and the spectrum of disease finally encompasses mild Bethlem myopathy, in which ambulation persists into adulthood. Dominant and recessive autosomal mutations in the three major collagen VI genes-COL6A1, COL6A2, and COL6A3-can underlie this entire clinical spectrum, and result in deficient or dysfunctional microfibrillar collagen VI in the extracellular matrix of muscle and other connective tissues, such as skin and tendons. The potential effects on muscle include progressive dystrophic changes, fibrosis and evidence for increased apoptosis, which potentially open avenues for pharmacological intervention. Optimized respiratory management, including noninvasive nocturnal ventilation together with careful orthopedic management, are the current mainstays of treatment and have already led to a considerable improvement in life expectancy for children with Ullrich congenital muscular dystrophy.
              Article 0 comments Cited 105 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Anne F. Peery
                Journal
                Journal ID (nlm-ta): Cell Mol Gastroenterol Hepatol
                Journal ID (iso-abbrev): Cell Mol Gastroenterol Hepatol
                Title: Cellular and Molecular Gastroenterology and Hepatology
                Publisher: Elsevier
                ISSN (Electronic): 2352-345X
                Publication date Collection: 2020
                Publication date (Electronic): 25 July 2019
                Volume: 9
                Issue: 1
                Pages: 15-32
                Affiliations
                [1 ]Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota
                [2 ]Center for Gastrointestinal Biology and Disease, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
                Author notes
                [∗ ] Correspondence Address correspondence to: Anne F. Peery, MD, Center for Gastrointestinal Biology and Disease, School of Medicine, University of North Carolina School of Medicine Chapel Hill, 130 Mason Farm Road, CB#7080, Chapel Hill, North Carolina 27599-7080. fax: (919) 966–8929. anne_peery@ 123456med.unc.edu
                Article
                Publisher ID: S2352-345X(19)30095-5
                DOI: 10.1016/j.jcmgh.2019.07.007
                PMC ID: 6881605
                PubMed ID: 31351939
                SO-VID: 7bdd1b13-d76e-4104-9092-80b7940d8e96
                Copyright © © 2019 The Authors
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 25 April 2019
                Date accepted : 18 July 2019
                Categories
                Subject: Review

                Keywords: diverticulum,diverticulitis,diverticular hemorrhage
                Data availability:
                Keywords: diverticulum, diverticulitis, diverticular hemorrhage

                Comments

                Comment on this article

                scite_

                Similar content379

                See all similar

                Cited by13

                See all cited by

                Most referenced authors2,883

                See all reference authors