A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss
According to this view, accumulation of deposits in vestibular and cochlear nerve channels leads to strangulation and progressive degeneration of the dendrites, and loss of cochlear and vestibular neurones. [...]we amplified exon 4 and 5 of the mutant COCH gene separately by using 5[variant prime]-G...
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| Veröffentlicht in: | Journal of medical genetics 2004-01, Vol.41 (1), p.e9-9 |
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| creator | Nagy, I Horváth, M Trexler, M Répássy, G Patthy, L |
| description | According to this view, accumulation of deposits in vestibular and cochlear nerve channels leads to strangulation and progressive degeneration of the dendrites, and loss of cochlear and vestibular neurones. [...]we amplified exon 4 and 5 of the mutant COCH gene separately by using 5[variant prime]-GCGGGATCCGTCGACCGCTCCCATTGCTATCACATG-3[variant prime] (sense) and 5[variant prime]-GAGTTGCTGATTACTCCCCTGTGGACAGCAGCCCCA-3[variant prime] (antisense) primers for exon 4, and 5[variant prime]-TGGGGCTGCTGTCCACAGGGGAGTAATCAGCAACTC-3[variant prime](sense) and 5[variant prime]-GCGAAGCTTACTCGAGAGTTACTGTGAAAGAAGCAG-3[variant prime] (antisense) primers for exon 5. |
| doi_str_mv | 10.1136/jmg.2003.012286 |
| format | Article |
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[...]we amplified exon 4 and 5 of the mutant COCH gene separately by using 5[variant prime]-GCGGGATCCGTCGACCGCTCCCATTGCTATCACATG-3[variant prime] (sense) and 5[variant prime]-GAGTTGCTGATTACTCCCCTGTGGACAGCAGCCCCA-3[variant prime] (antisense) primers for exon 4, and 5[variant prime]-TGGGGCTGCTGTCCACAGGGGAGTAATCAGCAACTC-3[variant prime](sense) and 5[variant prime]-GCGAAGCTTACTCGAGAGTTACTGTGAAAGAAGCAG-3[variant prime] (antisense) primers for exon 5.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2003.012286</identifier><identifier>PMID: 14729849</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adult ; Age ; Age of Onset ; Aged ; Aged, 80 and over ; Amino Acid Sequence - genetics ; COCH ; cochlin ; Deoxyribonucleic acid ; DFNA9 ; DNA ; E coli ; Ears & hearing ; Extracellular matrix ; Extracellular Matrix Proteins ; Female ; Genes ; Genes, Dominant - genetics ; Genetic testing ; Hearing loss ; Hearing Loss, Sensorineural - genetics ; Humans ; LCCL domain ; Male ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Mutation ; Online Mutation Report ; Otolaryngology ; Patients ; Peptides - genetics ; Point Mutation - genetics ; Protein Folding ; Protein Structure, Tertiary - genetics ; Proteins ; Proteins - chemistry ; Proteins - genetics ; Sequence Deletion - genetics ; Studies ; Valine - genetics ; Vertigo</subject><ispartof>Journal of medical genetics, 2004-01, Vol.41 (1), p.e9-9</ispartof><rights>Copyright 2004 Journal of Medical Genetics</rights><rights>Copyright: 2004 Copyright 2004 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b556t-6f19f1880b402d2f9704a91baf40bf52d1e06da1358785b766b6cec239cb0e333</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1757273/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1757273/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14729849$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nagy, I</creatorcontrib><creatorcontrib>Horváth, M</creatorcontrib><creatorcontrib>Trexler, M</creatorcontrib><creatorcontrib>Répássy, G</creatorcontrib><creatorcontrib>Patthy, L</creatorcontrib><title>A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>According to this view, accumulation of deposits in vestibular and cochlear nerve channels leads to strangulation and progressive degeneration of the dendrites, and loss of cochlear and vestibular neurones. [...]we amplified exon 4 and 5 of the mutant COCH gene separately by using 5[variant prime]-GCGGGATCCGTCGACCGCTCCCATTGCTATCACATG-3[variant prime] (sense) and 5[variant prime]-GAGTTGCTGATTACTCCCCTGTGGACAGCAGCCCCA-3[variant prime] (antisense) primers for exon 4, and 5[variant prime]-TGGGGCTGCTGTCCACAGGGGAGTAATCAGCAACTC-3[variant prime](sense) and 5[variant prime]-GCGAAGCTTACTCGAGAGTTACTGTGAAAGAAGCAG-3[variant prime] (antisense) primers for exon 5.</description><subject>Adult</subject><subject>Age</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amino Acid Sequence - genetics</subject><subject>COCH</subject><subject>cochlin</subject><subject>Deoxyribonucleic acid</subject><subject>DFNA9</subject><subject>DNA</subject><subject>E coli</subject><subject>Ears & hearing</subject><subject>Extracellular matrix</subject><subject>Extracellular Matrix Proteins</subject><subject>Female</subject><subject>Genes</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic testing</subject><subject>Hearing loss</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>LCCL domain</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Models, Molecular</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Online Mutation Report</subject><subject>Otolaryngology</subject><subject>Patients</subject><subject>Peptides - genetics</subject><subject>Point Mutation - genetics</subject><subject>Protein Folding</subject><subject>Protein Structure, Tertiary - genetics</subject><subject>Proteins</subject><subject>Proteins - chemistry</subject><subject>Proteins - genetics</subject><subject>Sequence Deletion - genetics</subject><subject>Studies</subject><subject>Valine - genetics</subject><subject>Vertigo</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1v1DAQhi0EokvLmRuyhMQBNVuPndjOpVJJaRcpbS-l4mY5ibPrJYm3drIq_55EWZWPCydbnmdee_wg9A7IEoDxs227XlJC2JIApZK_QAuIuYw4jeOXaEEIpRFNUnaE3oSwJQSYAP4aHUEsaCrjdIEeL3Dn9qbB2V22wu3Q69667hQ_AIkr05xi2-609QHXrqlst8auxv3G4DzLcly5VttuOipduWnGre4qXOohmIB33q29CcHuDd4Y7afmxoVwgl7Vugnm7WE9Rt-uvtxnqyi_u_6aXeRRkSS8j3gNaQ1SkiImtKJ1KkisUyh0HZOiTmgFhvBKA0ukkEkhOC94aUrK0rIghjF2jM7n3N1QtKYqTdd73aidt632P5XTVv1d6exGrd1egUgEFVPAx0OAd4-DCb1qbShN0-jOuCEoSYAwmU7gh3_ArRt8Nw43ZkmAhFOSjtTZTJV-_AVv6uenAFGTTDXKVJNMNcscO97_OcFv_mBvBKIZsKE3T8917X8oLphI1O1DpmR-c_356vulWo38p5kv2u1_b_8FZVC2WA</recordid><startdate>200401</startdate><enddate>200401</enddate><creator>Nagy, I</creator><creator>Horváth, M</creator><creator>Trexler, M</creator><creator>Répássy, G</creator><creator>Patthy, L</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</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><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>200401</creationdate><title>A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss</title><author>Nagy, I ; Horváth, M ; Trexler, M ; Répássy, G ; Patthy, L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b556t-6f19f1880b402d2f9704a91baf40bf52d1e06da1358785b766b6cec239cb0e333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Age</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amino Acid Sequence - genetics</topic><topic>COCH</topic><topic>cochlin</topic><topic>Deoxyribonucleic acid</topic><topic>DFNA9</topic><topic>DNA</topic><topic>E coli</topic><topic>Ears & hearing</topic><topic>Extracellular matrix</topic><topic>Extracellular Matrix Proteins</topic><topic>Female</topic><topic>Genes</topic><topic>Genes, Dominant - genetics</topic><topic>Genetic testing</topic><topic>Hearing loss</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Humans</topic><topic>LCCL domain</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Models, Molecular</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Online Mutation Report</topic><topic>Otolaryngology</topic><topic>Patients</topic><topic>Peptides - genetics</topic><topic>Point Mutation - genetics</topic><topic>Protein Folding</topic><topic>Protein Structure, Tertiary - genetics</topic><topic>Proteins</topic><topic>Proteins - chemistry</topic><topic>Proteins - genetics</topic><topic>Sequence Deletion - genetics</topic><topic>Studies</topic><topic>Valine - genetics</topic><topic>Vertigo</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nagy, I</creatorcontrib><creatorcontrib>Horváth, M</creatorcontrib><creatorcontrib>Trexler, M</creatorcontrib><creatorcontrib>Répássy, G</creatorcontrib><creatorcontrib>Patthy, L</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><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nagy, I</au><au>Horváth, M</au><au>Trexler, M</au><au>Répássy, G</au><au>Patthy, L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2004-01</date><risdate>2004</risdate><volume>41</volume><issue>1</issue><spage>e9</spage><epage>9</epage><pages>e9-9</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>According to this view, accumulation of deposits in vestibular and cochlear nerve channels leads to strangulation and progressive degeneration of the dendrites, and loss of cochlear and vestibular neurones. [...]we amplified exon 4 and 5 of the mutant COCH gene separately by using 5[variant prime]-GCGGGATCCGTCGACCGCTCCCATTGCTATCACATG-3[variant prime] (sense) and 5[variant prime]-GAGTTGCTGATTACTCCCCTGTGGACAGCAGCCCCA-3[variant prime] (antisense) primers for exon 4, and 5[variant prime]-TGGGGCTGCTGTCCACAGGGGAGTAATCAGCAACTC-3[variant prime](sense) and 5[variant prime]-GCGAAGCTTACTCGAGAGTTACTGTGAAAGAAGCAG-3[variant prime] (antisense) primers for exon 5.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>14729849</pmid><doi>10.1136/jmg.2003.012286</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Age Age of Onset Aged Aged, 80 and over Amino Acid Sequence - genetics COCH cochlin Deoxyribonucleic acid DFNA9 DNA E coli Ears & hearing Extracellular matrix Extracellular Matrix Proteins Female Genes Genes, Dominant - genetics Genetic testing Hearing loss Hearing Loss, Sensorineural - genetics Humans LCCL domain Male Middle Aged Models, Molecular Molecular Sequence Data Mutation Online Mutation Report Otolaryngology Patients Peptides - genetics Point Mutation - genetics Protein Folding Protein Structure, Tertiary - genetics Proteins Proteins - chemistry Proteins - genetics Sequence Deletion - genetics Studies Valine - genetics Vertigo |
| title | A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss |
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