MC1R gene variants involvement in human OCA phenotype
Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and se...
Ausführliche Beschreibung
Autor*in: |
Saleha Shamim [verfasserIn] Khan Taj Ali [verfasserIn] Zafar Shaista [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
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2016 |
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Übergeordnetes Werk: |
In: Open Life Sciences - De Gruyter, 2015, 11(2016), 1, Seite 142-150 |
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Übergeordnetes Werk: |
volume:11 ; year:2016 ; number:1 ; pages:142-150 |
Links: |
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DOI / URN: |
10.1515/biol-2016-0020 |
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Katalog-ID: |
DOAJ055103871 |
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10.1515/biol-2016-0020 doi (DE-627)DOAJ055103871 (DE-599)DOAJdc2a06ec7b7b40da94495e42b50c91cb DE-627 ger DE-627 rakwb eng QH301-705.5 Saleha Shamim verfasserin aut MC1R gene variants involvement in human OCA phenotype 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. oculocutaneous albinism mc1r variants oca phenotype hpopigmentation melanin synthesis Biology (General) Khan Taj Ali verfasserin aut Zafar Shaista verfasserin aut In Open Life Sciences De Gruyter, 2015 11(2016), 1, Seite 142-150 (DE-627)823089169 (DE-600)2817958-4 23915412 nnns volume:11 year:2016 number:1 pages:142-150 https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/article/dc2a06ec7b7b40da94495e42b50c91cb kostenfrei https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/toc/2391-5412 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_603 GBV_ILN_2014 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 11 2016 1 142-150 |
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10.1515/biol-2016-0020 doi (DE-627)DOAJ055103871 (DE-599)DOAJdc2a06ec7b7b40da94495e42b50c91cb DE-627 ger DE-627 rakwb eng QH301-705.5 Saleha Shamim verfasserin aut MC1R gene variants involvement in human OCA phenotype 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. oculocutaneous albinism mc1r variants oca phenotype hpopigmentation melanin synthesis Biology (General) Khan Taj Ali verfasserin aut Zafar Shaista verfasserin aut In Open Life Sciences De Gruyter, 2015 11(2016), 1, Seite 142-150 (DE-627)823089169 (DE-600)2817958-4 23915412 nnns volume:11 year:2016 number:1 pages:142-150 https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/article/dc2a06ec7b7b40da94495e42b50c91cb kostenfrei https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/toc/2391-5412 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_603 GBV_ILN_2014 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 11 2016 1 142-150 |
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10.1515/biol-2016-0020 doi (DE-627)DOAJ055103871 (DE-599)DOAJdc2a06ec7b7b40da94495e42b50c91cb DE-627 ger DE-627 rakwb eng QH301-705.5 Saleha Shamim verfasserin aut MC1R gene variants involvement in human OCA phenotype 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. oculocutaneous albinism mc1r variants oca phenotype hpopigmentation melanin synthesis Biology (General) Khan Taj Ali verfasserin aut Zafar Shaista verfasserin aut In Open Life Sciences De Gruyter, 2015 11(2016), 1, Seite 142-150 (DE-627)823089169 (DE-600)2817958-4 23915412 nnns volume:11 year:2016 number:1 pages:142-150 https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/article/dc2a06ec7b7b40da94495e42b50c91cb kostenfrei https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/toc/2391-5412 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_603 GBV_ILN_2014 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 11 2016 1 142-150 |
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10.1515/biol-2016-0020 doi (DE-627)DOAJ055103871 (DE-599)DOAJdc2a06ec7b7b40da94495e42b50c91cb DE-627 ger DE-627 rakwb eng QH301-705.5 Saleha Shamim verfasserin aut MC1R gene variants involvement in human OCA phenotype 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. oculocutaneous albinism mc1r variants oca phenotype hpopigmentation melanin synthesis Biology (General) Khan Taj Ali verfasserin aut Zafar Shaista verfasserin aut In Open Life Sciences De Gruyter, 2015 11(2016), 1, Seite 142-150 (DE-627)823089169 (DE-600)2817958-4 23915412 nnns volume:11 year:2016 number:1 pages:142-150 https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/article/dc2a06ec7b7b40da94495e42b50c91cb kostenfrei https://doi.org/10.1515/biol-2016-0020 kostenfrei https://doaj.org/toc/2391-5412 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_603 GBV_ILN_2014 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 11 2016 1 142-150 |
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Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. |
abstractGer |
Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. |
abstract_unstemmed |
Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype. |
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MC1R gene variants involvement in human OCA phenotype |
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