ArticleThe American journal of pathology2016
A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy.
Article in The American journal of pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of integrated stress response-related prognostic genes in high-grade serous ovarian cancer using Mendelian randomization, single-cell RNA sequencing, and bulk RNA sequencing.Frontiers in oncology · 2026Article
- Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024Review
- Ret kinase-mediated mechanical induction of colon stem cells by tumor growth pressure stimulates cancer progression in vivo.Communications biology · 2022Article
- Phenotypic switch of smooth muscle cells in paediatric chronic intestinal pseudo-obstruction syndrome.Journal of cellular and molecular medicine · 2021Article
- Article
- Nuclear pore complexes in development and tissue homeostasis.Development (Cambridge, England) · 2020Review
- Deletion of IPJournal of gastroenterology · 2019Article
- Mechanosensing at the Nuclear Envelope by Nuclear Pore Complex Stretch Activation and Its Effect in Physiology and Pathology.Frontiers in physiology · 2019Article
- Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease.Histochemistry and cell biology · 2018Review
- The roles of the nuclear pore complex in cellular dysfunction, aging and disease.Seminars in cell & developmental biology · 2017Review
- The distribution of runs of homozygosity and selection signatures in six commercial meat sheep breeds.PloS one · 2017Article
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10 authors at 2 institutions in 1 country.
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Abstract
Chronic intestinal pseudo-obstruction (CIPO) is a rare but life-threatening disease characterized by severe intestinal dysmotility. Histopathologic studies in CIPO patients have identified several different mechanisms that appear to be involved in the dysmotility, including defects in neurons, smooth muscle, or interstitial cells of Cajal. Currently there are few mouse models of the various forms of CIPO. We generated a mouse with a point mutation in the RNA recognition motif of the Nup35 gene, which encodes a component of the nuclear pore complex. Nup35 mutants developed a severe megacolon and exhibited a reduced lifespan. Histopathologic examination revealed a degenerative myopathy that developed after birth and specifically affected smooth muscle in the colon; smooth muscle in the small bowel and the bladder were not affected. Furthermore, no defects were found in enteric neurons or interstitial cells of Cajal. Nup35 mice are likely to be a valuable model for the subtype of CIPO characterized by degenerative myopathy. Our study also raises the possibility that Nup35 polymorphisms could contribute to some cases of CIPO.
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