Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization
Gespeichert in:
| Veröffentlicht in: | Human mutation 1998, Vol.11 (S1), p.S114-S116 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | S116 |
|---|---|
| container_issue | S1 |
| container_start_page | S114 |
| container_title | Human mutation |
| container_volume | 11 |
| creator | Goji, Katsumi Nishijima, Eüi Tsugawa, Chikara Nishio, Hisahide Pokharel, Rohit Kumar Matsuo, Masafumi |
| description | |
| doi_str_mv | 10.1002/humu.1380110138 |
| format | Article |
| fullrecord | <record><control><sourceid>istex_cross</sourceid><recordid>TN_cdi_crossref_primary_10_1002_humu_1380110138</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>ark_67375_WNG_JNC4S6NB_5</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3928-5e1e06cc18fe5a02bbe60beae4ca23db24678e443fc4d2feb961c3209d18394c3</originalsourceid><addsrcrecordid>eNqFkMtOwzAQRS0E4r1mheQfSLFj52GxggpaEJRFqYCV5TgTaoiTKE5Ky0_wyyQUgVixmpHOnDvSReiIkgElxD-Zt7YdUBYTSkk3NtAuJSL2OsY3-z0QXhQJvoP2nHshhMRBwLbRtuCB37Fd9DEpF5Bja5yDwgG2baMaUxbYFLiZAx7fjnBSLnGZ4endo8DPUEDPFL5WlSqgUx6fsFU54BpcmzeQ9lgrW5UWcqNxunJVrpxRWBUpdrCAGnAKGeimv7TK6TY3hXn_-nuAtjKVOzj8nvtodnlxPxx7N3ejq-HZjaeZ8GMvAAok1JrGGQSK-EkCIUlAAdfKZ2ni8zCKgXOWaZ76GSQipJr5RKQ0ZoJrto9O1rm6Lp2rIZNVbayqV5IS2Tcr-2blb7Odcbw2qjaxkP7cf1fZ8dM1fzM5rP6Lk-PZ7exPure2jWtg-WOr-lWGEYsC-TAZyevJkE_DybkM2Cf4fJdZ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Goji, Katsumi ; Nishijima, Eüi ; Tsugawa, Chikara ; Nishio, Hisahide ; Pokharel, Rohit Kumar ; Matsuo, Masafumi</creator><creatorcontrib>Goji, Katsumi ; Nishijima, Eüi ; Tsugawa, Chikara ; Nishio, Hisahide ; Pokharel, Rohit Kumar ; Matsuo, Masafumi</creatorcontrib><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.1380110138</identifier><identifier>PMID: 9452059</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Amino Acid Substitution ; Base Sequence ; Binding Sites ; Child ; Disorders of Sex Development - genetics ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Exons - genetics ; High Mobility Group Proteins - genetics ; High Mobility Group Proteins - metabolism ; Humans ; Japan ; Male ; Mutation, Missense ; Osteochondrodysplasias - genetics ; Point Mutation ; SOX9 Transcription Factor ; Transcription Factors - genetics ; Transcription Factors - metabolism</subject><ispartof>Human mutation, 1998, Vol.11 (S1), p.S114-S116</ispartof><rights>Copyright © 1998 Wiley‐Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3928-5e1e06cc18fe5a02bbe60beae4ca23db24678e443fc4d2feb961c3209d18394c3</citedby><cites>FETCH-LOGICAL-c3928-5e1e06cc18fe5a02bbe60beae4ca23db24678e443fc4d2feb961c3209d18394c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.1380110138$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.1380110138$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,4022,27921,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9452059$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goji, Katsumi</creatorcontrib><creatorcontrib>Nishijima, Eüi</creatorcontrib><creatorcontrib>Tsugawa, Chikara</creatorcontrib><creatorcontrib>Nishio, Hisahide</creatorcontrib><creatorcontrib>Pokharel, Rohit Kumar</creatorcontrib><creatorcontrib>Matsuo, Masafumi</creatorcontrib><title>Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><subject>Amino Acid Substitution</subject><subject>Base Sequence</subject><subject>Binding Sites</subject><subject>Child</subject><subject>Disorders of Sex Development - genetics</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Exons - genetics</subject><subject>High Mobility Group Proteins - genetics</subject><subject>High Mobility Group Proteins - metabolism</subject><subject>Humans</subject><subject>Japan</subject><subject>Male</subject><subject>Mutation, Missense</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Point Mutation</subject><subject>SOX9 Transcription Factor</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors - metabolism</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtOwzAQRS0E4r1mheQfSLFj52GxggpaEJRFqYCV5TgTaoiTKE5Ky0_wyyQUgVixmpHOnDvSReiIkgElxD-Zt7YdUBYTSkk3NtAuJSL2OsY3-z0QXhQJvoP2nHshhMRBwLbRtuCB37Fd9DEpF5Bja5yDwgG2baMaUxbYFLiZAx7fjnBSLnGZ4endo8DPUEDPFL5WlSqgUx6fsFU54BpcmzeQ9lgrW5UWcqNxunJVrpxRWBUpdrCAGnAKGeimv7TK6TY3hXn_-nuAtjKVOzj8nvtodnlxPxx7N3ejq-HZjaeZ8GMvAAok1JrGGQSK-EkCIUlAAdfKZ2ni8zCKgXOWaZ76GSQipJr5RKQ0ZoJrto9O1rm6Lp2rIZNVbayqV5IS2Tcr-2blb7Odcbw2qjaxkP7cf1fZ8dM1fzM5rP6Lk-PZ7exPure2jWtg-WOr-lWGEYsC-TAZyevJkE_DybkM2Cf4fJdZ</recordid><startdate>1998</startdate><enddate>1998</enddate><creator>Goji, Katsumi</creator><creator>Nishijima, Eüi</creator><creator>Tsugawa, Chikara</creator><creator>Nishio, Hisahide</creator><creator>Pokharel, Rohit Kumar</creator><creator>Matsuo, Masafumi</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>1998</creationdate><title>Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization</title><author>Goji, Katsumi ; Nishijima, Eüi ; Tsugawa, Chikara ; Nishio, Hisahide ; Pokharel, Rohit Kumar ; Matsuo, Masafumi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3928-5e1e06cc18fe5a02bbe60beae4ca23db24678e443fc4d2feb961c3209d18394c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Amino Acid Substitution</topic><topic>Base Sequence</topic><topic>Binding Sites</topic><topic>Child</topic><topic>Disorders of Sex Development - genetics</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Exons - genetics</topic><topic>High Mobility Group Proteins - genetics</topic><topic>High Mobility Group Proteins - metabolism</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Mutation, Missense</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Point Mutation</topic><topic>SOX9 Transcription Factor</topic><topic>Transcription Factors - genetics</topic><topic>Transcription Factors - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goji, Katsumi</creatorcontrib><creatorcontrib>Nishijima, Eüi</creatorcontrib><creatorcontrib>Tsugawa, Chikara</creatorcontrib><creatorcontrib>Nishio, Hisahide</creatorcontrib><creatorcontrib>Pokharel, Rohit Kumar</creatorcontrib><creatorcontrib>Matsuo, Masafumi</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goji, Katsumi</au><au>Nishijima, Eüi</au><au>Tsugawa, Chikara</au><au>Nishio, Hisahide</au><au>Pokharel, Rohit Kumar</au><au>Matsuo, Masafumi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1998</date><risdate>1998</risdate><volume>11</volume><issue>S1</issue><spage>S114</spage><epage>S116</epage><pages>S114-S116</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9452059</pmid><doi>10.1002/humu.1380110138</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 1998, Vol.11 (S1), p.S114-S116 |
| issn | 1059-7794 1098-1004 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_humu_1380110138 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Amino Acid Substitution Base Sequence Binding Sites Child Disorders of Sex Development - genetics DNA - chemistry DNA - genetics DNA Mutational Analysis Exons - genetics High Mobility Group Proteins - genetics High Mobility Group Proteins - metabolism Humans Japan Male Mutation, Missense Osteochondrodysplasias - genetics Point Mutation SOX9 Transcription Factor Transcription Factors - genetics Transcription Factors - metabolism |
| title | Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T20%3A10%3A37IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-istex_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Novel%20missense%20mutation%20in%20the%20HMG%20box%20of%20SOX9%20gene%20in%20a%20Japanese%20XY%20male%20resulted%20in%20campomelic%20dysplasia%20and%20severe%20defect%20in%20masculinization&rft.jtitle=Human%20mutation&rft.au=Goji,%20Katsumi&rft.date=1998&rft.volume=11&rft.issue=S1&rft.spage=S114&rft.epage=S116&rft.pages=S114-S116&rft.issn=1059-7794&rft.eissn=1098-1004&rft_id=info:doi/10.1002/humu.1380110138&rft_dat=%3Cistex_cross%3Eark_67375_WNG_JNC4S6NB_5%3C/istex_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/9452059&rfr_iscdi=true |