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Science, ISSN 0036-8075, 12/2005, Volume 310, Issue 5755, pp. 1782 - 1786
Lighter variations of pigmentation in humans are associated with diminished number, size, and density of melanosomes, the pigmented organelles of melanocytes.... 
Larvae | Melanophores | Calcium | Melanosomes | Humans | Alleles | Pigmentation | Embryos | Genetic mutation | Melanin | Research Article | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | SKIN COLOR | AFRICAN-AMERICANS | MUTATIONS | INDUCTION | HUMAN MELANOCYTES | MAP | HERMANSKY-PUDLAK-SYNDROME | MELANOSOMES | Haplotypes | Melanosomes - ultrastructure | Calcium - metabolism | Antiporters - chemistry | Genes | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Zebrafish - embryology | Melanosomes - chemistry | Multifactorial Inheritance | Skin Pigmentation - genetics | Genetic Variation | Melanins - analysis | Alanine - genetics | Pigment Epithelium of Eye - chemistry | Threonine - genetics | Antiporters - genetics | Pigment Epithelium of Eye - ultrastructure | Ion Transport | African Continental Ancestry Group - genetics | Amino Acid Sequence | European Continental Ancestry Group - genetics | Zebrafish Proteins - chemistry | Gene Frequency | Selection, Genetic | African Americans - genetics | Zebrafish - genetics | Zebrafish Proteins - physiology | Biological Evolution | Animals | Zebrafish - metabolism | Heterozygote | Mice | Polymorphism, Single Nucleotide | Mutation | Zebrafish Proteins - genetics | Antiporters - physiology | Genetic research | Color of animals | Research | Analysis | Pigments | Fish | Polymorphism
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, p. e87250
Background: As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until... 
ZEBRAFISH | TRANSPORTER | MELANOSOME | MAPS | MULTIDISCIPLINARY SCIENCES | MUTATIONS | IDENTIFICATION | LOCUS | Immunohistochemistry | Skin - metabolism | Humans | Molecular Sequence Data | Family Health | Male | Melanocytes - metabolism | Pigmentation Disorders - metabolism | Mutation, Missense | Zebrafish - embryology | Lod Score | Skin Diseases, Genetic - genetics | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Base Sequence | ATP-Binding Cassette Transporters - metabolism | Female | Skin - pathology | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Chromosome Mapping | Reverse Transcriptase Polymerase Chain Reaction | Sequence Homology, Nucleic Acid | Skin Diseases, Genetic - metabolism | Pigmentation Disorders - genetics | Zebrafish - genetics | Sequence Homology, Amino Acid | Exome - genetics | Animals | Pedigree | Zebrafish - metabolism | Genome-Wide Association Study - methods | Pigmentation Disorders - congenital | Analysis | Genes | Genomics | Family | Animal genetic engineering | Eye diseases | Genomes | Skin | Genetic aspects | Nucleotide sequencing | DNA sequencing | Multiplexing | Pathogenesis | Science | Melanocytes | Alliances | Gene sequencing | Interrogation | Genetics | Skin diseases | Bioinformatics | Kits | Dermatology | Abnormalities | Zebrafish | Heredity | Metabolism | Gene expression | Pigmentation | Polymerase chain reaction | Hospitals | Mutagenesis | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, p. e0162273
Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal... 
RNA-BINDING PROTEINS | CELLS | ELEMENTS | HETEROTRIMERIC G-PROTEIN | OA1 GENE | MULTIDISCIPLINARY SCIENCES | SEQUENCE | REGIONS | MISSENSE MUTATION | TYPE-1 | REVEALS | Albinism, Ocular - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Introns - genetics | Genetic Association Studies | Humans | 3' Untranslated Regions - genetics | Albinism, Ocular - diagnosis | Models, Molecular | Exons - genetics | 5' Untranslated Regions - genetics | Genetic Loci | Mutation - genetics | Sequence Analysis, DNA | GTP-Binding Protein alpha Subunits, Gi-Go - chemistry | Homozygote | Base Pairing - genetics | Base Sequence | Polymorphism, Single Nucleotide - genetics | Heterozygote | Genetic aspects | Nucleotide sequencing | Albinism | Genes | DNA sequencing | Brain | Membranes | G protein-coupled receptors | Control methods | Laboratories | Melanosomes | Computational neuroscience | Optic chiasm | Exons | Frameshift mutation | Retina | Ocular albinism | Genomes | Retinal pigment epithelium | Gene sequencing | Proteins | Coding | Evolution | Deoxyribonucleic acid--DNA | Filtration | Introns | Epithelium | Patients | Medicine | Axons | Computer applications | Sampling methods | Mutation | Genetic testing | Molecular biology | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e72027
Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing... 
ADENOASSOCIATED VIRAL VECTORS | VIRUS SEROTYPES | VIIA | PACKAGING CAPACITY | MULTIDISCIPLINARY SCIENCES | ROD DARK-ADAPTATION | LENTIVIRAL VECTOR | MOUSE MODEL | SHAKER1 MICE | USHER-SYNDROME 1B | RETINITIS-PIGMENTOSA | Dependovirus - genetics | Usher Syndromes - therapy | Retina - metabolism | Humans | Male | Myosins - deficiency | Retina - ultrastructure | Usher Syndromes - genetics | HEK293 Cells | Mice, Inbred CBA | Adult | Female | Myosins - metabolism | Usher Syndromes - physiopathology | Disease Models, Animal | Electroretinography | Eye - metabolism | Eye - ultrastructure | Retinal Degeneration - genetics | Mice, Inbred C57BL | Retina - physiopathology | Retinal Degeneration - physiopathology | Microscopy, Electron | Myosins - genetics | Blotting, Western | Genetic Vectors - genetics | Mice, Knockout | Animals | Retinal Degeneration - therapy | Mice | Melanosomes - metabolism | Eye - physiopathology | Genetic Therapy - methods | Genetic aspects | Genetic vectors | Gene therapy | Health aspects | Analysis | Genes | Animal models | Motility | Desensitization | Retinitis pigmentosa | Therapeutic applications | Abnormalities | Retina | Genomes | Epithelium | Retinal pigment epithelium | Hearing loss | Medicine | Genotype & phenotype | Hypotheses | Neurodegeneration | Light | Photoreceptors | Genetics | Degeneration | Retinitis | Mutation | Age
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 26, pp. 10658 - 10663
Amyloids are often associated with pathologic processes such as in Alzheimer's disease (AD), but can also underlie physiological processes such as... 
Melanosomes | HeLa cells | Pigments | Antibodies | Small interfering RNA | Melanocytes | Amyloids | Solar fibrils | Alzheimers disease | Pigmentation | MORPHOGENESIS | ENDOSOMES | BIOGENESIS | EPITHELIUM | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | MAMMALIAN MELANOCYTES | MELANOGENESIS | PROTEOLYSIS | GAMMA-SECRETASE | BETA | Amyloid Precursor Protein Secretases - genetics | RNA, Small Interfering - genetics | gp100 Melanoma Antigen - metabolism | Humans | Melanocytes - metabolism | Aspartic Acid Endopeptidases - genetics | RNA, Messenger - metabolism | Melanins - biosynthesis | Skin Pigmentation - genetics | Amyloid - biosynthesis | Skin Pigmentation - physiology | Cell Line | Mice, Inbred C57BL | RNA, Messenger - genetics | Mice, Knockout | Pigment Epithelium of Eye - metabolism | Amyloid Precursor Protein Secretases - metabolism | Animals | Aspartic Acid Endopeptidases - metabolism | Amyloid Precursor Protein Secretases - deficiency | Mice | Protein Processing, Post-Translational | HeLa Cells | Aspartic Acid Endopeptidases - deficiency | Melanosomes - metabolism | Morphogenesis | Physiological aspects | Research | Health aspects | Amyloid beta-protein | Animal genetics | Biotechnology | Biochemistry, Molecular Biology | Genomics | Neurons and Cognition | Neurobiology | Cellular Biology | Virology | Life Sciences | Human health and pathology | Microbiology and Parasitology | Infectious diseases | Biomolecules | Genetics | Subcellular Processes | Molecular biology | Human genetics | Cell Behavior | Biological Sciences
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2008, Volume 283, Issue 4, pp. 2307 - 2322
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 02/2010, Volume 23, Issue 1, pp. 27 - 40
Summary Microphthalmia‐associated transcription factor (MITF) was initially shown to play a key role in melanocyte differentiation through the direct... 
melanoma | melanocytes | microphthalmia‐associated transcription factor | mast cells | targets | osteoclasts | Microphthalmia-associated transcription factor | Melanocytes | Osteoclasts | Mast cells | Targets | Melanoma