Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

<p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replac...
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Autor*in:	Basso Cristina [verfasserIn] Occhi Gianluca [verfasserIn] Bauce Barbara [verfasserIn] Sigalotti Luca [verfasserIn] Mancuso Luisa [verfasserIn] Zaccolo Manuela [verfasserIn] Lorenzon Alessandra [verfasserIn] Salamon Michela [verfasserIn] Nava Andrea [verfasserIn] De Bortoli Marzia [verfasserIn] Beffagna Giorgia [verfasserIn] Lanfranchi Gerolamo [verfasserIn] Towbin Jeffrey A [verfasserIn] Thiene Gaetano [verfasserIn] Danieli Gian [verfasserIn] Rampazzo Alessandra [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2007

Übergeordnetes Werk:	In: BMC Medical Genetics - BMC, 2003, 8(2007), 1, p 65
Übergeordnetes Werk:	volume:8 ; year:2007 ; number:1, p 65

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/1471-2350-8-65

Katalog-ID:	DOAJ063921529

Internformat


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245	1	0	\|a Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
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520			\|a <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p<
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allfields	10.1186/1471-2350-8-65 doi (DE-627)DOAJ063921529 (DE-599)DOAJca6fdb57af2f45e79c7d94c074c9aa97 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Basso Cristina verfasserin aut Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p< Internal medicine Genetics Occhi Gianluca verfasserin aut Bauce Barbara verfasserin aut Sigalotti Luca verfasserin aut Mancuso Luisa verfasserin aut Zaccolo Manuela verfasserin aut Lorenzon Alessandra verfasserin aut Salamon Michela verfasserin aut Nava Andrea verfasserin aut De Bortoli Marzia verfasserin aut Beffagna Giorgia verfasserin aut Lanfranchi Gerolamo verfasserin aut Towbin Jeffrey A verfasserin aut Thiene Gaetano verfasserin aut Danieli Gian verfasserin aut Rampazzo Alessandra verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 65 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 65 https://doi.org/10.1186/1471-2350-8-65 kostenfrei https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 kostenfrei http://www.biomedcentral.com/1471-2350/8/65 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 65
spelling	10.1186/1471-2350-8-65 doi (DE-627)DOAJ063921529 (DE-599)DOAJca6fdb57af2f45e79c7d94c074c9aa97 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Basso Cristina verfasserin aut Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p< Internal medicine Genetics Occhi Gianluca verfasserin aut Bauce Barbara verfasserin aut Sigalotti Luca verfasserin aut Mancuso Luisa verfasserin aut Zaccolo Manuela verfasserin aut Lorenzon Alessandra verfasserin aut Salamon Michela verfasserin aut Nava Andrea verfasserin aut De Bortoli Marzia verfasserin aut Beffagna Giorgia verfasserin aut Lanfranchi Gerolamo verfasserin aut Towbin Jeffrey A verfasserin aut Thiene Gaetano verfasserin aut Danieli Gian verfasserin aut Rampazzo Alessandra verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 65 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 65 https://doi.org/10.1186/1471-2350-8-65 kostenfrei https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 kostenfrei http://www.biomedcentral.com/1471-2350/8/65 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 65
allfields_unstemmed	10.1186/1471-2350-8-65 doi (DE-627)DOAJ063921529 (DE-599)DOAJca6fdb57af2f45e79c7d94c074c9aa97 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Basso Cristina verfasserin aut Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p< Internal medicine Genetics Occhi Gianluca verfasserin aut Bauce Barbara verfasserin aut Sigalotti Luca verfasserin aut Mancuso Luisa verfasserin aut Zaccolo Manuela verfasserin aut Lorenzon Alessandra verfasserin aut Salamon Michela verfasserin aut Nava Andrea verfasserin aut De Bortoli Marzia verfasserin aut Beffagna Giorgia verfasserin aut Lanfranchi Gerolamo verfasserin aut Towbin Jeffrey A verfasserin aut Thiene Gaetano verfasserin aut Danieli Gian verfasserin aut Rampazzo Alessandra verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 65 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 65 https://doi.org/10.1186/1471-2350-8-65 kostenfrei https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 kostenfrei http://www.biomedcentral.com/1471-2350/8/65 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 65
allfieldsGer	10.1186/1471-2350-8-65 doi (DE-627)DOAJ063921529 (DE-599)DOAJca6fdb57af2f45e79c7d94c074c9aa97 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Basso Cristina verfasserin aut Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p< Internal medicine Genetics Occhi Gianluca verfasserin aut Bauce Barbara verfasserin aut Sigalotti Luca verfasserin aut Mancuso Luisa verfasserin aut Zaccolo Manuela verfasserin aut Lorenzon Alessandra verfasserin aut Salamon Michela verfasserin aut Nava Andrea verfasserin aut De Bortoli Marzia verfasserin aut Beffagna Giorgia verfasserin aut Lanfranchi Gerolamo verfasserin aut Towbin Jeffrey A verfasserin aut Thiene Gaetano verfasserin aut Danieli Gian verfasserin aut Rampazzo Alessandra verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 65 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 65 https://doi.org/10.1186/1471-2350-8-65 kostenfrei https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 kostenfrei http://www.biomedcentral.com/1471-2350/8/65 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 65
allfieldsSound	10.1186/1471-2350-8-65 doi (DE-627)DOAJ063921529 (DE-599)DOAJca6fdb57af2f45e79c7d94c074c9aa97 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Basso Cristina verfasserin aut Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p< Internal medicine Genetics Occhi Gianluca verfasserin aut Bauce Barbara verfasserin aut Sigalotti Luca verfasserin aut Mancuso Luisa verfasserin aut Zaccolo Manuela verfasserin aut Lorenzon Alessandra verfasserin aut Salamon Michela verfasserin aut Nava Andrea verfasserin aut De Bortoli Marzia verfasserin aut Beffagna Giorgia verfasserin aut Lanfranchi Gerolamo verfasserin aut Towbin Jeffrey A verfasserin aut Thiene Gaetano verfasserin aut Danieli Gian verfasserin aut Rampazzo Alessandra verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 65 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 65 https://doi.org/10.1186/1471-2350-8-65 kostenfrei https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 kostenfrei http://www.biomedcentral.com/1471-2350/8/65 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 65
language	English
source	In BMC Medical Genetics 8(2007), 1, p 65 volume:8 year:2007 number:1, p 65
sourceStr	In BMC Medical Genetics 8(2007), 1, p 65 volume:8 year:2007 number:1, p 65
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Internal medicine Genetics
isfreeaccess_bool	true
container_title	BMC Medical Genetics
authorswithroles_txt_mv	Basso Cristina @@aut@@ Occhi Gianluca @@aut@@ Bauce Barbara @@aut@@ Sigalotti Luca @@aut@@ Mancuso Luisa @@aut@@ Zaccolo Manuela @@aut@@ Lorenzon Alessandra @@aut@@ Salamon Michela @@aut@@ Nava Andrea @@aut@@ De Bortoli Marzia @@aut@@ Beffagna Giorgia @@aut@@ Lanfranchi Gerolamo @@aut@@ Towbin Jeffrey A @@aut@@ Thiene Gaetano @@aut@@ Danieli Gian @@aut@@ Rampazzo Alessandra @@aut@@
publishDateDaySort_date	2007-01-01T00:00:00Z
hierarchy_top_id	326643788
id	DOAJ063921529
language_de	englisch
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callnumber-first	R - Medicine
author	Basso Cristina
spellingShingle	Basso Cristina misc RC31-1245 misc QH426-470 misc Internal medicine misc Genetics Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
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topic_title	RC31-1245 QH426-470 Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
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title	Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
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title_full	Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
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author_browse	Basso Cristina Occhi Gianluca Bauce Barbara Sigalotti Luca Mancuso Luisa Zaccolo Manuela Lorenzon Alessandra Salamon Michela Nava Andrea De Bortoli Marzia Beffagna Giorgia Lanfranchi Gerolamo Towbin Jeffrey A Thiene Gaetano Danieli Gian Rampazzo Alessandra
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title_sort	missense mutations in desmocollin-2 n-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
callnumber	RC31-1245
title_auth	Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
abstract	<p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p< <p<We screened 54 ARVC probands for mutations in desmocollin-2 (<it<DSC2</it<), the only desmocollin isoform expressed in cardiac tissue.</p< <p<Methods</p< <p<Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p< <p<To evaluate the pathogenic potentials of the <it<DSC2 </it<mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p< <p<Results</p< <p<We identified two heterozygous mutations (c.304G<A (p.E102K) and c.1034T<C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p<
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title_short	Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
url	https://doi.org/10.1186/1471-2350-8-65 https://doaj.org/article/ca6fdb57af2f45e79c7d94c074c9aa97 http://www.biomedcentral.com/1471-2350/8/65 https://doaj.org/toc/1471-2350
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The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p< <p<In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p< <p<Conclusion</p< <p<The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. 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Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

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