Molecular Genetics of RB1--The Retinoblastoma Gene
Thirty-seven years ago Alfred Knudson proposed his "two-hit" theory of the molecular etiology of retinoblastoma, establishing an elegant conceptual paradigm for tumorigenesis in general. A great body of work has subsequently elucidated the structure and function of the RB1 gene and the bio...
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| Veröffentlicht in: | Seminars in ophthalmology 2007-10, Vol.22 (4), p.247-254 |
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| container_title | Seminars in ophthalmology |
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| creator | Leiderman, Yannek I. Kiss, Szilárd Mukai, Shizuo |
| description | Thirty-seven years ago Alfred Knudson proposed his "two-hit" theory of the molecular etiology of retinoblastoma, establishing an elegant conceptual paradigm for tumorigenesis in general. A great body of work has subsequently elucidated the structure and function of the RB1 gene and the biology of its protein product, pRB. Multiple categories of mutations have been characterized and correlated with phenotypic expression, including translocations, deletions, insertions, and point mutations. The purpose of this review is to provide a concise overview of the molecular genetics and genotype-phenotype correlations in retinoblastoma. |
| doi_str_mv | 10.1080/08820530701745165 |
| format | Article |
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A great body of work has subsequently elucidated the structure and function of the RB1 gene and the biology of its protein product, pRB. Multiple categories of mutations have been characterized and correlated with phenotypic expression, including translocations, deletions, insertions, and point mutations. The purpose of this review is to provide a concise overview of the molecular genetics and genotype-phenotype correlations in retinoblastoma.</description><identifier>ISSN: 0882-0538</identifier><identifier>EISSN: 1744-5205</identifier><identifier>DOI: 10.1080/08820530701745165</identifier><identifier>PMID: 18097988</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Genes, Retinoblastoma - physiology ; Humans ; Molecular Biology ; Retinal Neoplasms - genetics ; retinoblastoma ; Retinoblastoma - genetics ; retinoblastoma gene ; Retinoblastoma Protein - genetics ; tumor suppressor</subject><ispartof>Seminars in ophthalmology, 2007-10, Vol.22 (4), p.247-254</ispartof><rights>2007 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c319t-4087b7140a256fc8d4eba24882f7d0a60439896b91426753f0bec1946b3c216d3</citedby><cites>FETCH-LOGICAL-c319t-4087b7140a256fc8d4eba24882f7d0a60439896b91426753f0bec1946b3c216d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1080/08820530701745165$$EPDF$$P50$$Ginformahealthcare$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1080/08820530701745165$$EHTML$$P50$$Ginformahealthcare$$H</linktohtml><link.rule.ids>314,780,784,27915,27916,59636,59742,60425,60531,61210,61245,61391,61426</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18097988$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Leiderman, Yannek I.</creatorcontrib><creatorcontrib>Kiss, Szilárd</creatorcontrib><creatorcontrib>Mukai, Shizuo</creatorcontrib><title>Molecular Genetics of RB1--The Retinoblastoma Gene</title><title>Seminars in ophthalmology</title><addtitle>Semin Ophthalmol</addtitle><description>Thirty-seven years ago Alfred Knudson proposed his "two-hit" theory of the molecular etiology of retinoblastoma, establishing an elegant conceptual paradigm for tumorigenesis in general. A great body of work has subsequently elucidated the structure and function of the RB1 gene and the biology of its protein product, pRB. Multiple categories of mutations have been characterized and correlated with phenotypic expression, including translocations, deletions, insertions, and point mutations. The purpose of this review is to provide a concise overview of the molecular genetics and genotype-phenotype correlations in retinoblastoma.</description><subject>Genes, Retinoblastoma - physiology</subject><subject>Humans</subject><subject>Molecular Biology</subject><subject>Retinal Neoplasms - genetics</subject><subject>retinoblastoma</subject><subject>Retinoblastoma - genetics</subject><subject>retinoblastoma gene</subject><subject>Retinoblastoma Protein - genetics</subject><subject>tumor suppressor</subject><issn>0882-0538</issn><issn>1744-5205</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kFFLwzAUhYMobk5_gC-yJ9-qN23aJOiLDp3CRBjzOaRpwjrSZiYtsn9v5gYiwp7u5d7vHA4HoUsMNxgY3AJjKeQZUMCU5LjIj9AwbiTJ4_kYDbf_JAJsgM5CWAGkmKbZKRpgBpxyxoYofXNWq95KP57qVne1CmNnxvNHnCSLpR7P46l1pZWhc438Yc7RiZE26Iv9HKGP56fF5CWZvU9fJw-zRGWYdwkBRkuKCcg0L4xiFdGlTEmMZGgFsgCSccaLkmOSFjTPDJRaYU6KMlMpLqpshK53vmvvPnsdOtHUQWlrZatdH0TBgXKCeQTxDlTeheC1EWtfN9JvBAaxLUr8Kypqrvbmfdno6lexbyYC9zugbo3zjfxy3laikxvrvPGyVXUQ2SH_uz_ypZa2WyrptVi53rexuAPpvgFM6oVP</recordid><startdate>200710</startdate><enddate>200710</enddate><creator>Leiderman, Yannek I.</creator><creator>Kiss, Szilárd</creator><creator>Mukai, Shizuo</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200710</creationdate><title>Molecular Genetics of RB1--The Retinoblastoma Gene</title><author>Leiderman, Yannek I. ; Kiss, Szilárd ; Mukai, Shizuo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c319t-4087b7140a256fc8d4eba24882f7d0a60439896b91426753f0bec1946b3c216d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Genes, Retinoblastoma - physiology</topic><topic>Humans</topic><topic>Molecular Biology</topic><topic>Retinal Neoplasms - genetics</topic><topic>retinoblastoma</topic><topic>Retinoblastoma - genetics</topic><topic>retinoblastoma gene</topic><topic>Retinoblastoma Protein - genetics</topic><topic>tumor suppressor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leiderman, Yannek I.</creatorcontrib><creatorcontrib>Kiss, Szilárd</creatorcontrib><creatorcontrib>Mukai, Shizuo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Seminars in ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leiderman, Yannek I.</au><au>Kiss, Szilárd</au><au>Mukai, Shizuo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Genetics of RB1--The Retinoblastoma Gene</atitle><jtitle>Seminars in ophthalmology</jtitle><addtitle>Semin Ophthalmol</addtitle><date>2007-10</date><risdate>2007</risdate><volume>22</volume><issue>4</issue><spage>247</spage><epage>254</epage><pages>247-254</pages><issn>0882-0538</issn><eissn>1744-5205</eissn><abstract>Thirty-seven years ago Alfred Knudson proposed his "two-hit" theory of the molecular etiology of retinoblastoma, establishing an elegant conceptual paradigm for tumorigenesis in general. 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| ispartof | Seminars in ophthalmology, 2007-10, Vol.22 (4), p.247-254 |
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| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Genes, Retinoblastoma - physiology Humans Molecular Biology Retinal Neoplasms - genetics retinoblastoma Retinoblastoma - genetics retinoblastoma gene Retinoblastoma Protein - genetics tumor suppressor |
| title | Molecular Genetics of RB1--The Retinoblastoma Gene |
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