Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma
Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Ariani, Francesca [verfasserIn] Longo, Ilaria [verfasserIn] Frezzotti, Paolo [verfasserIn] Pescucci, Chiara [verfasserIn] Mari, Francesca [verfasserIn] Caporossi, Aldo [verfasserIn] Frezzotti, Renato [verfasserIn] Renieri, Alessandra [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2006 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Graefe's archive for clinical and experimental ophthalmology - Berlin : Springer, 1854, 244(2006), 9 vom: 27. Jan., Seite 1077-1082 |
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| Übergeordnetes Werk: |
volume:244 ; year:2006 ; number:9 ; day:27 ; month:01 ; pages:1077-1082 |
| Links: |
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| DOI / URN: |
10.1007/s00417-005-0079-3 |
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| Katalog-ID: |
SPR005400759 |
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| 100 | 1 | |a Ariani, Francesca |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
| 264 | 1 | |c 2006 | |
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| 337 | |a Computermedien |b c |2 rdamedia | ||
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| 520 | |a Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. | ||
| 650 | 4 | |a Primary open-angle glaucoma |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a OPTN |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Normotensive glaucoma |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a High-tension glaucoma |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Longo, Ilaria |e verfasserin |4 aut | |
| 700 | 1 | |a Frezzotti, Paolo |e verfasserin |4 aut | |
| 700 | 1 | |a Pescucci, Chiara |e verfasserin |4 aut | |
| 700 | 1 | |a Mari, Francesca |e verfasserin |4 aut | |
| 700 | 1 | |a Caporossi, Aldo |e verfasserin |4 aut | |
| 700 | 1 | |a Frezzotti, Renato |e verfasserin |4 aut | |
| 700 | 1 | |a Renieri, Alessandra |e verfasserin |4 aut | |
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| 912 | |a GBV_ILN_2050 | ||
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| 912 | |a GBV_ILN_2107 | ||
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| 912 | |a GBV_ILN_2116 | ||
| 912 | |a GBV_ILN_2118 | ||
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| allfields |
10.1007/s00417-005-0079-3 doi (DE-627)SPR005400759 (SPR)s00417-005-0079-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Ariani, Francesca verfasserin aut Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 Longo, Ilaria verfasserin aut Frezzotti, Paolo verfasserin aut Pescucci, Chiara verfasserin aut Mari, Francesca verfasserin aut Caporossi, Aldo verfasserin aut Frezzotti, Renato verfasserin aut Renieri, Alessandra verfasserin aut Enthalten in Graefe's archive for clinical and experimental ophthalmology Berlin : Springer, 1854 244(2006), 9 vom: 27. Jan., Seite 1077-1082 (DE-627)253723728 (DE-600)1459159-5 1435-702X nnns volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 https://dx.doi.org/10.1007/s00417-005-0079-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 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_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 244 2006 9 27 01 1077-1082 |
| spelling |
10.1007/s00417-005-0079-3 doi (DE-627)SPR005400759 (SPR)s00417-005-0079-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Ariani, Francesca verfasserin aut Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 Longo, Ilaria verfasserin aut Frezzotti, Paolo verfasserin aut Pescucci, Chiara verfasserin aut Mari, Francesca verfasserin aut Caporossi, Aldo verfasserin aut Frezzotti, Renato verfasserin aut Renieri, Alessandra verfasserin aut Enthalten in Graefe's archive for clinical and experimental ophthalmology Berlin : Springer, 1854 244(2006), 9 vom: 27. Jan., Seite 1077-1082 (DE-627)253723728 (DE-600)1459159-5 1435-702X nnns volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 https://dx.doi.org/10.1007/s00417-005-0079-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 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_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 244 2006 9 27 01 1077-1082 |
| allfields_unstemmed |
10.1007/s00417-005-0079-3 doi (DE-627)SPR005400759 (SPR)s00417-005-0079-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Ariani, Francesca verfasserin aut Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 Longo, Ilaria verfasserin aut Frezzotti, Paolo verfasserin aut Pescucci, Chiara verfasserin aut Mari, Francesca verfasserin aut Caporossi, Aldo verfasserin aut Frezzotti, Renato verfasserin aut Renieri, Alessandra verfasserin aut Enthalten in Graefe's archive for clinical and experimental ophthalmology Berlin : Springer, 1854 244(2006), 9 vom: 27. Jan., Seite 1077-1082 (DE-627)253723728 (DE-600)1459159-5 1435-702X nnns volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 https://dx.doi.org/10.1007/s00417-005-0079-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 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_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 244 2006 9 27 01 1077-1082 |
| allfieldsGer |
10.1007/s00417-005-0079-3 doi (DE-627)SPR005400759 (SPR)s00417-005-0079-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Ariani, Francesca verfasserin aut Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 Longo, Ilaria verfasserin aut Frezzotti, Paolo verfasserin aut Pescucci, Chiara verfasserin aut Mari, Francesca verfasserin aut Caporossi, Aldo verfasserin aut Frezzotti, Renato verfasserin aut Renieri, Alessandra verfasserin aut Enthalten in Graefe's archive for clinical and experimental ophthalmology Berlin : Springer, 1854 244(2006), 9 vom: 27. Jan., Seite 1077-1082 (DE-627)253723728 (DE-600)1459159-5 1435-702X nnns volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 https://dx.doi.org/10.1007/s00417-005-0079-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 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_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 244 2006 9 27 01 1077-1082 |
| allfieldsSound |
10.1007/s00417-005-0079-3 doi (DE-627)SPR005400759 (SPR)s00417-005-0079-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Ariani, Francesca verfasserin aut Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 Longo, Ilaria verfasserin aut Frezzotti, Paolo verfasserin aut Pescucci, Chiara verfasserin aut Mari, Francesca verfasserin aut Caporossi, Aldo verfasserin aut Frezzotti, Renato verfasserin aut Renieri, Alessandra verfasserin aut Enthalten in Graefe's archive for clinical and experimental ophthalmology Berlin : Springer, 1854 244(2006), 9 vom: 27. Jan., Seite 1077-1082 (DE-627)253723728 (DE-600)1459159-5 1435-702X nnns volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 https://dx.doi.org/10.1007/s00417-005-0079-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 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_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 244 2006 9 27 01 1077-1082 |
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Enthalten in Graefe's archive for clinical and experimental ophthalmology 244(2006), 9 vom: 27. Jan., Seite 1077-1082 volume:244 year:2006 number:9 day:27 month:01 pages:1077-1082 |
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Primary open-angle glaucoma OPTN Normotensive glaucoma High-tension glaucoma |
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Ariani, Francesca @@aut@@ Longo, Ilaria @@aut@@ Frezzotti, Paolo @@aut@@ Pescucci, Chiara @@aut@@ Mari, Francesca @@aut@@ Caporossi, Aldo @@aut@@ Frezzotti, Renato @@aut@@ Renieri, Alessandra @@aut@@ |
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Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. 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Ariani, Francesca |
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Ariani, Francesca ddc 610 bkl 44.95 misc Primary open-angle glaucoma misc OPTN misc Normotensive glaucoma misc High-tension glaucoma Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
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610 ASE 44.95 bkl Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma Primary open-angle glaucoma (dpeaa)DE-He213 OPTN (dpeaa)DE-He213 Normotensive glaucoma (dpeaa)DE-He213 High-tension glaucoma (dpeaa)DE-He213 |
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ddc 610 bkl 44.95 misc Primary open-angle glaucoma misc OPTN misc Normotensive glaucoma misc High-tension glaucoma |
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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
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Ariani, Francesca Longo, Ilaria Frezzotti, Paolo Pescucci, Chiara Mari, Francesca Caporossi, Aldo Frezzotti, Renato Renieri, Alessandra |
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Ariani, Francesca |
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optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
| title_auth |
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
| abstract |
Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. |
| abstractGer |
Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. |
| abstract_unstemmed |
Purpose To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). Methods Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. Results We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. Conclusions In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG. |
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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma |
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https://dx.doi.org/10.1007/s00417-005-0079-3 |
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Longo, Ilaria Frezzotti, Paolo Pescucci, Chiara Mari, Francesca Caporossi, Aldo Frezzotti, Renato Renieri, Alessandra |
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| score |
7.400326 |