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cell biology of polycystic kidney disease
Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epitheli...
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Published in: | The Journal of cell biology 2010-11, Vol.191 (4), p.701-710 |
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container_title | The Journal of cell biology |
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creator | Chapin, Hannah C Caplan, Michael J |
description | Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets. |
doi_str_mv | 10.1083/jcb.201006173 |
format | article |
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The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets.</description><identifier>ISSN: 0021-9525</identifier><identifier>EISSN: 1540-8140</identifier><identifier>DOI: 10.1083/jcb.201006173</identifier><identifier>PMID: 21079243</identifier><identifier>CODEN: JCLBA3</identifier><language>eng</language><publisher>United States: The Rockefeller University Press</publisher><subject>Animals ; Autosomal dominant polycystic kidney ; Autosomal recessive polycystic kidney ; Cell growth ; Cellular biology ; Cilia ; Cystic kidney diseases ; Cysts ; Gene expression ; Genetic disorders ; GTP-Binding Proteins - metabolism ; Humans ; Kidney - pathology ; Kidney - physiopathology ; Kidney diseases ; Kidneys ; Models, Molecular ; Mutation ; Pathogenesis ; Polycystic kidney diseases ; Polycystic Kidney, Autosomal Dominant - genetics ; Polycystic Kidney, Autosomal Dominant - pathology ; Polycystic Kidney, Autosomal Dominant - physiopathology ; Proteins ; Review ; Reviews ; Signal Transduction - physiology ; TRPP cation channels ; TRPP Cation Channels - chemistry ; TRPP Cation Channels - genetics ; TRPP Cation Channels - metabolism ; Wnt Proteins - metabolism</subject><ispartof>The Journal of cell biology, 2010-11, Vol.191 (4), p.701-710</ispartof><rights>Copyright Rockefeller University Press Nov 15, 2010</rights><rights>2010 Chapin and Caplan 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c525t-7b9b8efd5d85b0d6e7a7799b25e30dc91ead9b331e1677333056a51fe87b217d3</citedby><cites>FETCH-LOGICAL-c525t-7b9b8efd5d85b0d6e7a7799b25e30dc91ead9b331e1677333056a51fe87b217d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21079243$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chapin, Hannah C</creatorcontrib><creatorcontrib>Caplan, Michael J</creatorcontrib><title>cell biology of polycystic kidney disease</title><title>The Journal of cell biology</title><addtitle>J Cell Biol</addtitle><description>Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. 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Caplan, Michael J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c525t-7b9b8efd5d85b0d6e7a7799b25e30dc91ead9b331e1677333056a51fe87b217d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Animals</topic><topic>Autosomal dominant polycystic kidney</topic><topic>Autosomal recessive polycystic kidney</topic><topic>Cell growth</topic><topic>Cellular biology</topic><topic>Cilia</topic><topic>Cystic kidney diseases</topic><topic>Cysts</topic><topic>Gene expression</topic><topic>Genetic disorders</topic><topic>GTP-Binding Proteins - metabolism</topic><topic>Humans</topic><topic>Kidney - pathology</topic><topic>Kidney - physiopathology</topic><topic>Kidney diseases</topic><topic>Kidneys</topic><topic>Models, Molecular</topic><topic>Mutation</topic><topic>Pathogenesis</topic><topic>Polycystic kidney diseases</topic><topic>Polycystic Kidney, Autosomal Dominant - genetics</topic><topic>Polycystic Kidney, Autosomal Dominant - pathology</topic><topic>Polycystic Kidney, Autosomal Dominant - physiopathology</topic><topic>Proteins</topic><topic>Review</topic><topic>Reviews</topic><topic>Signal Transduction - physiology</topic><topic>TRPP cation channels</topic><topic>TRPP Cation Channels - chemistry</topic><topic>TRPP Cation Channels - genetics</topic><topic>TRPP Cation Channels - metabolism</topic><topic>Wnt Proteins - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chapin, Hannah C</creatorcontrib><creatorcontrib>Caplan, Michael J</creatorcontrib><collection>AGRIS</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of cell biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chapin, Hannah C</au><au>Caplan, Michael J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>cell biology of polycystic kidney disease</atitle><jtitle>The Journal of cell biology</jtitle><addtitle>J Cell Biol</addtitle><date>2010-11-15</date><risdate>2010</risdate><volume>191</volume><issue>4</issue><spage>701</spage><epage>710</epage><pages>701-710</pages><issn>0021-9525</issn><eissn>1540-8140</eissn><coden>JCLBA3</coden><abstract>Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets.</abstract><cop>United States</cop><pub>The Rockefeller University Press</pub><pmid>21079243</pmid><doi>10.1083/jcb.201006173</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Animals Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Cell growth Cellular biology Cilia Cystic kidney diseases Cysts Gene expression Genetic disorders GTP-Binding Proteins - metabolism Humans Kidney - pathology Kidney - physiopathology Kidney diseases Kidneys Models, Molecular Mutation Pathogenesis Polycystic kidney diseases Polycystic Kidney, Autosomal Dominant - genetics Polycystic Kidney, Autosomal Dominant - pathology Polycystic Kidney, Autosomal Dominant - physiopathology Proteins Review Reviews Signal Transduction - physiology TRPP cation channels TRPP Cation Channels - chemistry TRPP Cation Channels - genetics TRPP Cation Channels - metabolism Wnt Proteins - metabolism |
title | cell biology of polycystic kidney disease |
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