Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

10.1371/journal.pone.0087250

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Main Authors:	Liu H., Li Y., Hung K.K.H., Wang N., Wang C., Chen X., Sheng D., Fu X., See K., Foo J.N., Low H., Liany H., Irwan I.D., Liu J., Yang B., Chen M., Yu Y., Yu G., Niu G., You J., Zhou Y., Ma S., Wang T., Yan X., Goh B.K., Common J.E.A., Lane B.E., Sun Y., Zhou G., Lu X., Wang Z., Tian H., Cao Y., Chen S., Liu Q., Zhang F.
Other Authors:	PATHOLOGY
Format:	Article
Published:	2019
Subjects:	ABCB6 gene animal experiment article Chinese clinical article coloboma controlled study dyschromatosis universalis hereditaria embryo exome gene gene expression regulation gene function gene mutation gene sequence genetic analysis genetic association genetic disorder genetic linkage genome analysis human human cell immunohistochemistry melanocyte mutational analysis nonhuman nucleotide sequence phenotype real time polymerase chain reaction sequence analysis single nucleotide polymorphism skin pigmentation visual system examination zebra fish amino acid sequence animal chromosome map embryology family health female genetic predisposition genetics male metabolism missense mutation molecular genetics pathology pedigree Pigmentation Disorders procedures reverse transcription polymerase chain reaction sequence homology skin skin disease ABC transporter ABCB6 protein, human Amino Acid Sequence Animals ATP-Binding Cassette Transporters Base Sequence Chromosome Mapping DNA Mutational Analysis Exome Family Health Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Immunohistochemistry Lod Score Male Melanocytes Molecular Sequence Data Mutation, Missense Pedigree Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Skin Skin Diseases, Genetic Zebrafish
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161431
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1614312024-04-03T07:38:15Z Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria Liu H. Li Y. Hung K.K.H. Wang N. Wang C. Chen X. Sheng D. Fu X. See K. Foo J.N. Low H. Liany H. Irwan I.D. Liu J. Yang B. Chen M. Yu Y. Yu G. Niu G. You J. Zhou Y. Ma S. Wang T. Yan X. Goh B.K. Common J.E.A. Lane B.E. Sun Y. Zhou G. Lu X. Wang Z. Tian H. Cao Y. Chen S. Liu Q. Liu J. Zhang F. PATHOLOGY ABCB6 gene animal experiment article Chinese clinical article coloboma controlled study dyschromatosis universalis hereditaria embryo exome gene gene expression regulation gene function gene mutation gene sequence genetic analysis genetic association genetic disorder genetic linkage genome analysis human human cell immunohistochemistry melanocyte mutational analysis nonhuman nucleotide sequence phenotype real time polymerase chain reaction sequence analysis single nucleotide polymorphism skin pigmentation visual system examination zebra fish amino acid sequence animal chromosome map embryology exome family health female genetic linkage genetic predisposition genetics male metabolism missense mutation molecular genetics pathology pedigree Pigmentation Disorders procedures reverse transcription polymerase chain reaction sequence homology skin skin disease ABC transporter ABCB6 protein, human Amino Acid Sequence Animals ATP-Binding Cassette Transporters Base Sequence Chromosome Mapping DNA Mutational Analysis Exome Family Health Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Immunohistochemistry Lod Score Male Melanocytes Molecular Sequence Data Mutation, Missense Pedigree Pigmentation Disorders Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Skin Skin Diseases, Genetic Zebrafish 10.1371/journal.pone.0087250 PLoS ONE 9 2 e87250 2019-11-05T02:04:06Z 2019-11-05T02:04:06Z 2014 Article Liu H., Li Y., Hung K.K.H., Wang N., Wang C., Chen X., Sheng D., Fu X., See K., Foo J.N., Low H., Liany H., Irwan I.D., Liu J., Yang B., Chen M., Yu Y., Yu G., Niu G., You J., Zhou Y., Ma S., Wang T., Yan X., Goh B.K., Common J.E.A., Lane B.E., Sun Y., Zhou G., Lu X., Wang Z., Tian H., Cao Y., Chen S., Liu Q., Liu J., Zhang F. (2014). Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. PLoS ONE 9 (2) : e87250. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0087250 1932-6203 https://scholarbank.nus.edu.sg/handle/10635/161431 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	ABCB6 gene animal experiment article Chinese clinical article coloboma controlled study dyschromatosis universalis hereditaria embryo exome gene gene expression regulation gene function gene mutation gene sequence genetic analysis genetic association genetic disorder genetic linkage genome analysis human human cell immunohistochemistry melanocyte mutational analysis nonhuman nucleotide sequence phenotype real time polymerase chain reaction sequence analysis single nucleotide polymorphism skin pigmentation visual system examination zebra fish amino acid sequence animal chromosome map embryology exome family health female genetic linkage genetic predisposition genetics male metabolism missense mutation molecular genetics pathology pedigree Pigmentation Disorders procedures reverse transcription polymerase chain reaction sequence homology skin skin disease ABC transporter ABCB6 protein, human Amino Acid Sequence Animals ATP-Binding Cassette Transporters Base Sequence Chromosome Mapping DNA Mutational Analysis Exome Family Health Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Immunohistochemistry Lod Score Male Melanocytes Molecular Sequence Data Mutation, Missense Pedigree Pigmentation Disorders Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Skin Skin Diseases, Genetic Zebrafish
spellingShingle	ABCB6 gene animal experiment article Chinese clinical article coloboma controlled study dyschromatosis universalis hereditaria embryo exome gene gene expression regulation gene function gene mutation gene sequence genetic analysis genetic association genetic disorder genetic linkage genome analysis human human cell immunohistochemistry melanocyte mutational analysis nonhuman nucleotide sequence phenotype real time polymerase chain reaction sequence analysis single nucleotide polymorphism skin pigmentation visual system examination zebra fish amino acid sequence animal chromosome map embryology exome family health female genetic linkage genetic predisposition genetics male metabolism missense mutation molecular genetics pathology pedigree Pigmentation Disorders procedures reverse transcription polymerase chain reaction sequence homology skin skin disease ABC transporter ABCB6 protein, human Amino Acid Sequence Animals ATP-Binding Cassette Transporters Base Sequence Chromosome Mapping DNA Mutational Analysis Exome Family Health Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Immunohistochemistry Lod Score Male Melanocytes Molecular Sequence Data Mutation, Missense Pedigree Pigmentation Disorders Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Skin Skin Diseases, Genetic Zebrafish Liu H. Li Y. Hung K.K.H. Wang N. Wang C. Chen X. Sheng D. Fu X. See K. Foo J.N. Low H. Liany H. Irwan I.D. Liu J. Yang B. Chen M. Yu Y. Yu G. Niu G. You J. Zhou Y. Ma S. Wang T. Yan X. Goh B.K. Common J.E.A. Lane B.E. Sun Y. Zhou G. Lu X. Wang Z. Tian H. Cao Y. Chen S. Liu Q. Liu J. Zhang F. Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
description	10.1371/journal.pone.0087250
author2	PATHOLOGY
author_facet	PATHOLOGY Liu H. Li Y. Hung K.K.H. Wang N. Wang C. Chen X. Sheng D. Fu X. See K. Foo J.N. Low H. Liany H. Irwan I.D. Liu J. Yang B. Chen M. Yu Y. Yu G. Niu G. You J. Zhou Y. Ma S. Wang T. Yan X. Goh B.K. Common J.E.A. Lane B.E. Sun Y. Zhou G. Lu X. Wang Z. Tian H. Cao Y. Chen S. Liu Q. Liu J. Zhang F.
format	Article
author	Liu H. Li Y. Hung K.K.H. Wang N. Wang C. Chen X. Sheng D. Fu X. See K. Foo J.N. Low H. Liany H. Irwan I.D. Liu J. Yang B. Chen M. Yu Y. Yu G. Niu G. You J. Zhou Y. Ma S. Wang T. Yan X. Goh B.K. Common J.E.A. Lane B.E. Sun Y. Zhou G. Lu X. Wang Z. Tian H. Cao Y. Chen S. Liu Q. Liu J. Zhang F.
author_sort	Liu H.
title	Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
title_short	Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
title_full	Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
title_fullStr	Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
title_full_unstemmed	Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
title_sort	genome-wide linkage, exome sequencing and functional analyses identify abcb6 as the pathogenic gene of dyschromatosis universalis hereditaria
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161431
_version_	1795374101751136256

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

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