DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient
Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross d...
Gespeichert in:
| Veröffentlicht in: | Molecular and cellular probes 2011-10, Vol.25 (5-6), p.195-198 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 198 |
|---|---|
| container_issue | 5-6 |
| container_start_page | 195 |
| container_title | Molecular and cellular probes |
| container_volume | 25 |
| creator | Incollu, Simona Lepori, Maria Barbara Zappu, Antonietta Dessì, Valentina Noli, Maria Cristina Mameli, Eva Iorio, Raffaele Ranucci, Giusy Cao, Antonio Loudianos, Georgios |
| description | Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease. |
| doi_str_mv | 10.1016/j.mcp.2011.07.003 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_902331741</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>902331741</sourcerecordid><originalsourceid>FETCH-LOGICAL-c300t-d56eb39a162a132496fcd73c20fb26f4dcfc40d51706bbe57d8c26d55b28f6493</originalsourceid><addsrcrecordid>eNo9kcFu1DAQhi0EotvCA3BBvnFKGNuJEx-XAi1SVRAq4mg59mTXqyRebOewfSIek4QunEYz_ucbyR8hbxiUDJh8fyhHeyw5MFZCUwKIZ2TDQMmCMVU9JxtoFRRtDe0FuUzpAACqgvYlueBM8ZrLekN-f7zfUjM5-n2pKc_OY6J9iHQMA9p5MJHavYnGZoz-0WQfJhp6auguhpSowwH_zhxmXDKO-onuwxgeT7uQfD6tfd4jvb_lxYIY_WQGGnF35qxP24dvzQe6wwnXsKE__ZBWok9oEtLjchSn_Iq86M2Q8PW5XpEfnz89XN8Wd19vvlxv7worAHLhaomdUIZJbpjglZK9dY2wHPqOy75ytrcVuJo1ILsO68a1lktX1x1ve1kpcUXePXGPMfyaMWU9-mRxGMyEYU5aAReCNRVbkuwpadeviNjrY_SjiSfNQK9-9EEvfvTqR0OjFz_Lztszfe5GdP83_gkRfwAS4Y48</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>902331741</pqid></control><display><type>article</type><title>DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Incollu, Simona ; Lepori, Maria Barbara ; Zappu, Antonietta ; Dessì, Valentina ; Noli, Maria Cristina ; Mameli, Eva ; Iorio, Raffaele ; Ranucci, Giusy ; Cao, Antonio ; Loudianos, Georgios</creator><creatorcontrib>Incollu, Simona ; Lepori, Maria Barbara ; Zappu, Antonietta ; Dessì, Valentina ; Noli, Maria Cristina ; Mameli, Eva ; Iorio, Raffaele ; Ranucci, Giusy ; Cao, Antonio ; Loudianos, Georgios</creatorcontrib><description>Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.</description><identifier>ISSN: 0890-8508</identifier><identifier>EISSN: 1096-1194</identifier><identifier>DOI: 10.1016/j.mcp.2011.07.003</identifier><identifier>PMID: 21925265</identifier><language>eng</language><publisher>England</publisher><subject>Adenosine Triphosphatases - genetics ; Adolescent ; Base Sequence ; Cation Transport Proteins - genetics ; Consanguinity ; Copper-transporting ATPases ; DNA - analysis ; DNA - chemistry ; Exons ; Genes, Recessive ; Genetic Counseling ; Hepatolenticular Degeneration - genetics ; Homozygote ; Humans ; Introns ; Italy ; Male ; Molecular Sequence Data ; Multiplex Polymerase Chain Reaction ; RNA - analysis ; RNA - chemistry ; Sequence Analysis, DNA - methods ; Sequence Analysis, RNA - methods ; Sequence Deletion</subject><ispartof>Molecular and cellular probes, 2011-10, Vol.25 (5-6), p.195-198</ispartof><rights>Published by Elsevier Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c300t-d56eb39a162a132496fcd73c20fb26f4dcfc40d51706bbe57d8c26d55b28f6493</citedby><cites>FETCH-LOGICAL-c300t-d56eb39a162a132496fcd73c20fb26f4dcfc40d51706bbe57d8c26d55b28f6493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21925265$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Incollu, Simona</creatorcontrib><creatorcontrib>Lepori, Maria Barbara</creatorcontrib><creatorcontrib>Zappu, Antonietta</creatorcontrib><creatorcontrib>Dessì, Valentina</creatorcontrib><creatorcontrib>Noli, Maria Cristina</creatorcontrib><creatorcontrib>Mameli, Eva</creatorcontrib><creatorcontrib>Iorio, Raffaele</creatorcontrib><creatorcontrib>Ranucci, Giusy</creatorcontrib><creatorcontrib>Cao, Antonio</creatorcontrib><creatorcontrib>Loudianos, Georgios</creatorcontrib><title>DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient</title><title>Molecular and cellular probes</title><addtitle>Mol Cell Probes</addtitle><description>Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Adolescent</subject><subject>Base Sequence</subject><subject>Cation Transport Proteins - genetics</subject><subject>Consanguinity</subject><subject>Copper-transporting ATPases</subject><subject>DNA - analysis</subject><subject>DNA - chemistry</subject><subject>Exons</subject><subject>Genes, Recessive</subject><subject>Genetic Counseling</subject><subject>Hepatolenticular Degeneration - genetics</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Introns</subject><subject>Italy</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Multiplex Polymerase Chain Reaction</subject><subject>RNA - analysis</subject><subject>RNA - chemistry</subject><subject>Sequence Analysis, DNA - methods</subject><subject>Sequence Analysis, RNA - methods</subject><subject>Sequence Deletion</subject><issn>0890-8508</issn><issn>1096-1194</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kcFu1DAQhi0EotvCA3BBvnFKGNuJEx-XAi1SVRAq4mg59mTXqyRebOewfSIek4QunEYz_ucbyR8hbxiUDJh8fyhHeyw5MFZCUwKIZ2TDQMmCMVU9JxtoFRRtDe0FuUzpAACqgvYlueBM8ZrLekN-f7zfUjM5-n2pKc_OY6J9iHQMA9p5MJHavYnGZoz-0WQfJhp6auguhpSowwH_zhxmXDKO-onuwxgeT7uQfD6tfd4jvb_lxYIY_WQGGnF35qxP24dvzQe6wwnXsKE__ZBWok9oEtLjchSn_Iq86M2Q8PW5XpEfnz89XN8Wd19vvlxv7worAHLhaomdUIZJbpjglZK9dY2wHPqOy75ytrcVuJo1ILsO68a1lktX1x1ve1kpcUXePXGPMfyaMWU9-mRxGMyEYU5aAReCNRVbkuwpadeviNjrY_SjiSfNQK9-9EEvfvTqR0OjFz_Lztszfe5GdP83_gkRfwAS4Y48</recordid><startdate>201110</startdate><enddate>201110</enddate><creator>Incollu, Simona</creator><creator>Lepori, Maria Barbara</creator><creator>Zappu, Antonietta</creator><creator>Dessì, Valentina</creator><creator>Noli, Maria Cristina</creator><creator>Mameli, Eva</creator><creator>Iorio, Raffaele</creator><creator>Ranucci, Giusy</creator><creator>Cao, Antonio</creator><creator>Loudianos, Georgios</creator><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>201110</creationdate><title>DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient</title><author>Incollu, Simona ; Lepori, Maria Barbara ; Zappu, Antonietta ; Dessì, Valentina ; Noli, Maria Cristina ; Mameli, Eva ; Iorio, Raffaele ; Ranucci, Giusy ; Cao, Antonio ; Loudianos, Georgios</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c300t-d56eb39a162a132496fcd73c20fb26f4dcfc40d51706bbe57d8c26d55b28f6493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adenosine Triphosphatases - genetics</topic><topic>Adolescent</topic><topic>Base Sequence</topic><topic>Cation Transport Proteins - genetics</topic><topic>Consanguinity</topic><topic>Copper-transporting ATPases</topic><topic>DNA - analysis</topic><topic>DNA - chemistry</topic><topic>Exons</topic><topic>Genes, Recessive</topic><topic>Genetic Counseling</topic><topic>Hepatolenticular Degeneration - genetics</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Introns</topic><topic>Italy</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Multiplex Polymerase Chain Reaction</topic><topic>RNA - analysis</topic><topic>RNA - chemistry</topic><topic>Sequence Analysis, DNA - methods</topic><topic>Sequence Analysis, RNA - methods</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Incollu, Simona</creatorcontrib><creatorcontrib>Lepori, Maria Barbara</creatorcontrib><creatorcontrib>Zappu, Antonietta</creatorcontrib><creatorcontrib>Dessì, Valentina</creatorcontrib><creatorcontrib>Noli, Maria Cristina</creatorcontrib><creatorcontrib>Mameli, Eva</creatorcontrib><creatorcontrib>Iorio, Raffaele</creatorcontrib><creatorcontrib>Ranucci, Giusy</creatorcontrib><creatorcontrib>Cao, Antonio</creatorcontrib><creatorcontrib>Loudianos, Georgios</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>Molecular and cellular probes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Incollu, Simona</au><au>Lepori, Maria Barbara</au><au>Zappu, Antonietta</au><au>Dessì, Valentina</au><au>Noli, Maria Cristina</au><au>Mameli, Eva</au><au>Iorio, Raffaele</au><au>Ranucci, Giusy</au><au>Cao, Antonio</au><au>Loudianos, Georgios</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient</atitle><jtitle>Molecular and cellular probes</jtitle><addtitle>Mol Cell Probes</addtitle><date>2011-10</date><risdate>2011</risdate><volume>25</volume><issue>5-6</issue><spage>195</spage><epage>198</epage><pages>195-198</pages><issn>0890-8508</issn><eissn>1096-1194</eissn><abstract>Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.</abstract><cop>England</cop><pmid>21925265</pmid><doi>10.1016/j.mcp.2011.07.003</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0890-8508 |
| ispartof | Molecular and cellular probes, 2011-10, Vol.25 (5-6), p.195-198 |
| issn | 0890-8508 1096-1194 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_902331741 |
| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adenosine Triphosphatases - genetics Adolescent Base Sequence Cation Transport Proteins - genetics Consanguinity Copper-transporting ATPases DNA - analysis DNA - chemistry Exons Genes, Recessive Genetic Counseling Hepatolenticular Degeneration - genetics Homozygote Humans Introns Italy Male Molecular Sequence Data Multiplex Polymerase Chain Reaction RNA - analysis RNA - chemistry Sequence Analysis, DNA - methods Sequence Analysis, RNA - methods Sequence Deletion |
| title | DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-03T19%3A41%3A21IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=DNA%20and%20RNA%20studies%20for%20molecular%20characterization%20of%20a%20gross%20deletion%20detected%20in%20homozygosity%20in%20the%20NH2-terminal%20region%20of%20the%20ATP7B%20gene%20in%20a%20Wilson%20disease%20patient&rft.jtitle=Molecular%20and%20cellular%20probes&rft.au=Incollu,%20Simona&rft.date=2011-10&rft.volume=25&rft.issue=5-6&rft.spage=195&rft.epage=198&rft.pages=195-198&rft.issn=0890-8508&rft.eissn=1096-1194&rft_id=info:doi/10.1016/j.mcp.2011.07.003&rft_dat=%3Cproquest_cross%3E902331741%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=902331741&rft_id=info:pmid/21925265&rfr_iscdi=true |