Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying th...
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Autor*in:	Aneta Ścieżyńska [verfasserIn] Marta Soszyńska [verfasserIn] Michał Komorowski [verfasserIn] Anna Podgórska [verfasserIn] Natalia Krześniak [verfasserIn] Aleksandra Nogowska [verfasserIn] Martyna Smolińska [verfasserIn] Kamil Szulborski [verfasserIn] Jacek P. Szaflik [verfasserIn] Bartłomiej Noszczyk [verfasserIn] Monika Ołdak [verfasserIn] Jacek Malejczyk [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	hair follicles Stargardt disease molecular analysis splice-site variants

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 21(2020), 10, p 3430
Übergeordnetes Werk:	volume:21 ; year:2020 ; number:10, p 3430

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.3390/ijms21103430

Katalog-ID:	DOAJ075041510

Internformat


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520			\|a <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies.
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allfields	10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430
spelling	10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430
allfields_unstemmed	10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430
allfieldsGer	10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430
allfieldsSound	10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430
language	English
source	In International Journal of Molecular Sciences 21(2020), 10, p 3430 volume:21 year:2020 number:10, p 3430
sourceStr	In International Journal of Molecular Sciences 21(2020), 10, p 3430 volume:21 year:2020 number:10, p 3430
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry
isfreeaccess_bool	true
container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Aneta Ścieżyńska @@aut@@ Marta Soszyńska @@aut@@ Michał Komorowski @@aut@@ Anna Podgórska @@aut@@ Natalia Krześniak @@aut@@ Aleksandra Nogowska @@aut@@ Martyna Smolińska @@aut@@ Kamil Szulborski @@aut@@ Jacek P. Szaflik @@aut@@ Bartłomiej Noszczyk @@aut@@ Monika Ołdak @@aut@@ Jacek Malejczyk @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	316340715
id	DOAJ075041510
language_de	englisch
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callnumber-first	Q - Science
author	Aneta Ścieżyńska
spellingShingle	Aneta Ścieżyńska misc QH301-705.5 misc QD1-999 misc hair follicles misc <i<ABCA4</i< gene mutations misc Stargardt disease misc <i<ABCA4</i< retinopathies misc molecular analysis misc splice-site variants misc Biology (General) misc Chemistry Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
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topic_title	QH301-705.5 QD1-999 Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants
topic	misc QH301-705.5 misc QD1-999 misc hair follicles misc <i<ABCA4</i< gene mutations misc Stargardt disease misc <i<ABCA4</i< retinopathies misc molecular analysis misc splice-site variants misc Biology (General) misc Chemistry
topic_unstemmed	misc QH301-705.5 misc QD1-999 misc hair follicles misc <i<ABCA4</i< gene mutations misc Stargardt disease misc <i<ABCA4</i< retinopathies misc molecular analysis misc splice-site variants misc Biology (General) misc Chemistry
topic_browse	misc QH301-705.5 misc QD1-999 misc hair follicles misc <i<ABCA4</i< gene mutations misc Stargardt disease misc <i<ABCA4</i< retinopathies misc molecular analysis misc splice-site variants misc Biology (General) misc Chemistry
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title	Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
ctrlnum	(DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f
title_full	Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
author_sort	Aneta Ścieżyńska
journal	International Journal of Molecular Sciences
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author_browse	Aneta Ścieżyńska Marta Soszyńska Michał Komorowski Anna Podgórska Natalia Krześniak Aleksandra Nogowska Martyna Smolińska Kamil Szulborski Jacek P. Szaflik Bartłomiej Noszczyk Monika Ołdak Jacek Malejczyk
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title_sort	molecular analysis of the <i<abca4</i< gene mutations in patients with stargardt disease using human hair follicles
callnumber	QH301-705.5
title_auth	Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
abstract	<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies.
abstractGer	<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies.
abstract_unstemmed	<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies.
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title_short	Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
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Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

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