Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Human Genetics

• Publication date

  2003-09-10

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-003-0998-1PMID 13680365
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A monograph on Albinism in man

  2005cited by this paper
• Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

  2003cited by this paper
• Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

  2003cited by this paper
• The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

  2001cited by this paper
• Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

  2001cited by this paper
• Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

  2001cited by this paper
• Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

  2001cited by this paper
• Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.

  2000cited by this paper
• A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.

  2000cited by this paper
• Locus control regions: coming of age at a decade plus.

  1999cited by this paper
• Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

  1999cited by this paper
• Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

  1999cited by this paper
• A Splicing Mutation of the Tyrosinase Gene Causes Yellow Oculocutaneous Albinism in a Japanese Patient with a Pigmented Phenotype

  1999cited by this paper
• Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

  1999cited by this paper
• Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

  1998influential reference
• Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

  1998cited by this paper
• Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

  1998cited by this paper
• Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

  1997cited by this paper
• Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

  1997cited by this paper
• Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

  1997cited by this paper
• A locus control region at −12 kb of the tyrosinase gene.

  1996cited by this paper
• Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.

  1996cited by this paper
• Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

  1994cited by this paper
• Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

  1994influential reference
• Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

  1994cited by this paper
• Molecular genetics of oculocutaneous albinism.

  1993cited by this paper
• A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

  1993influential reference
• A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

  1993cited by this paper
• Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

  1993cited by this paper
• Molecular genetics of oculocutaneous albinism.

  1993cited by this paper
• Mutational mapping of the catalytic activities of human tyrosinase.

  1992cited by this paper
• The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

  1992cited by this paper
• A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

  1991cited by this paper
• Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

  1991cited by this paper
• Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

  1991cited by this paper
• Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled mice.

  1991cited by this paper
• Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.

  1991cited by this paper
• Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

  1991cited by this paper
• Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

  1990cited by this paper
• Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.

  1989cited by this paper
• Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

  1988cited by this paper
• Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

  1987cited by this paper
• The Coat Colors of Mice. A Model for Mammalian Gene Action and Interaction

  1980cited by this paper
• The Coat Colors of Mice

  1979cited by this paper
• Abnormalities of Pigmentation

  1979influential reference
• The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages.

  1973cited by this paper

• First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon

  2026cites this paper
• Genetic mutations disrupt the coordinated mode of tyrosinase's intra‐melanosomal domain

  2025cites this paper
• Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q

  2025cites this paper
• Genetic mutations disrupt the coordinated mode of tyrosinase intra-melanosomal domain

  2025cites this paper
• Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation

  2025cites this paper
• Retinal Pigment Epithelium‐Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I

  2025cites this paper
• The Role of Two Tyrosinase‐Like Glycoenzymes in Defining the Final Hue of Parrot Plumage

  2025cites this paper
• A new rescue assay for genetic diagnosis of oculocutaneous albinism using MNT1 knock-out cells

  2025cites this paper
• Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report

  2024cites this paper
• Population Structure and Genomic Characterisation of the Ashanti Dwarf Pig of Ghana

  2024cites this paper
• Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L

  2024cites this paper
• A patient with albinism and retinitis pigmentosa, a case report

  2024cites this paper
• Whole exome sequencing combined with in silico protein analysis identifies rare truncating variants in the TYR gene associated with oculocutaneous albinism1A (OCA1A) in an Iranian patient

  2024cites this paper
• Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

  2024cites this paper
• Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism

  2024cites this paper
• Genotypic spectrum of albinism in Mali

  2024cites this paper
• Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation

  2023influential citation
• Species differences in hormonally mediated gene expression underlie the evolutionary loss of sexually dimorphic coloration in Sceloporus lizards.

  2023cites this paper
• Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation

  2023cites this paper
• Decoding Race and Age-Related Macular Degeneration: GPR 143 Activity Is the Key.

  2023cites this paper
• Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

  2023cites this paper
• Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

  2023cites this paper
• Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population

  2023cites this paper
• Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

  2023cites this paper
• Genetic analyses of Vietnamese patients with oculocutaneous albinism

  2022cites this paper
• Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review

  2022cites this paper
• The retinal pigmentation pathway in human albinism: Not so black and white.

  2022cites this paper
• Multi-step synthesis of indole-N-ethyltriazole hybrids amalgamated with N-arylated ethanamides: structure-activity relationship and mechanistic explorations through tyrosinase inhibition, kinetics and computational ascriptions

  2022cites this paper
• Human Foveal Cone and RPE Cell Topographies and Their Correspondence With Foveal Shape

  2022cites this paper
• Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

  2022cites this paper
• Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

  2022cites this paper
• The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics

  2022cites this paper
• Pediatric Cutaneous Oncology: Genodermatoses and Cancer Syndromes.

  2022cites this paper
• Effects of Hypopigmentation Alleles and Ancestry on Skin Color in a Caribbean Native American Population

  2021cites this paper
• In silico analysis of missense Single Nucleotide Variants (SNVs) in HBB gene associated with the β-thalassemia

  2021cites this paper
• Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

  2021influential citation
• Affinity Proteomics and Deglycoproteomics Uncover Novel EDEM2 Endogenous Substrates and an Integrative ERAD Network

  2021cites this paper
• Spectrophotometric Assays for Sensing Tyrosinase Activity and Their Applications

  2021cites this paper
• The critical role of ROS in Ermanin-induced melanogenesis.

  2021cites this paper
• Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse

  2021cites this paper
• Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

  2021cites this paper
• A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

  2021cites this paper
• The structure and function of the mouse tyrosinase locus

  2020cites this paper
• Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

  2020cites this paper
• Human Tyrosinase: Temperature-Dependent Kinetics of Oxidase Activity

  2020cites this paper
• Molecular and biochemical mechanisms of human iris color: A comprehensive review

  2020cites this paper
• TYR Gene

  2020cites this paper
• Clinical and genetic variability in children with partial albinism

  2019cites this paper
• Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

  2019cites this paper
• Analyses démographiques, phénotypiques et génétiques d’une cohorte de 692 patients atteints d'albinisme

  2019influential citation
• ALBINISM

  2019cites this paper
• Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

  2019cites this paper
• Comparative transcriptome analysis reveals the genetic basis of coat color variation in Pashmina goat

  2019cites this paper
• Estudo das causas genéticas do albinismo em humanos e a relação com o diagnóstico dermatológico e alterações oftalmológicas

  2019cites this paper
• Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

  2019influential citation
• Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1

  2018cites this paper
• Albinism: Genetics

  2018cites this paper
• Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing

  2018cites this paper
• Genetic investigations in rare genodermatoses with pigmentaional abnormalities

  2018influential citation
• The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density

  2018cites this paper
• Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

  2018cites this paper
• Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses

  2017cites this paper
• [Oculocutaneous and ocular albinism].

  2017cites this paper
• Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

  2017cites this paper
• Okulokutaner und okulärer Albinismus

  2017cites this paper
• Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity

  2017cites this paper
• The effect of oxaloacetic acid on tyrosinase activity and structure: Integration of inhibition kinetics with docking simulation.

  2017cites this paper
• Delineating the genetic heterogeneity of OCA in Hungarian patients

  2017influential citation
• Structure and activity studies of tyrosinases and related proteins

  2017cites this paper
• Disorders of Pigmentation

  2017cites this paper
• Development of cloning-free protocols for generation of gene knockouts using CRISPR-Cas9 technology in the model organisms Danio rerio Drosophila melanogaster and Mus Musculus

  2017cites this paper
• Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran

  2017influential citation
• A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

  2016cites this paper
• Transcriptome expression profiling of fur color formation in domestic rabbits using Solexa sequencing.

  2016cites this paper
• Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies

  2016cites this paper
• Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype‐to‐phenotype correlation

  2016cites this paper
• Mutation analysis of a Chinese family with oculocutaneous albinism

  2016cites this paper
• Cutaneous metabolic pathway of tyrosine as a precursor to melanin in Asinara's white donkey, Equus asinus L., 1758

  2015cites this paper
• Caracterización molecular en individuos colombianos con albinismo Oculocutáneo (OCA)

  2015cites this paper
• Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

  2015influential citation
• STAP-2 Protein Expression in B16F10 Melanoma Cells Positively Regulates Protein Levels of Tyrosinase, Which Determines Organs to Infiltrate in the Body*

  2015cites this paper
• Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

  2015cites this paper
• Transcriptome analysis reveals the potential mechanism of the albino skin development in pufferfish Takifugu obscurus

  2015cites this paper
• Functional validation of mouse tyrosinase non-coding regulatory DNA elements by CRISPR–Cas9-mediated mutagenesis

  2015cites this paper
• Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase

  2015cites this paper
• Tyrosinase Gene Analysis and Phenotypic Comparison in Wookiees with Oculocutaneous Albinism Type 1

  2014cites this paper
• Hipomelanozy przekazywane z pokolenia na pokolenie Hypomelanoses transmitted from generation to generation

  2014cites this paper
• [Hypomelanoses transmitted from generation to generation].

  2014cites this paper
• Relationship between foveal cone specialization and pit morphology in albinism.

  2014cites this paper
• Tyrosinase gene mutations in the Chinese Han population with OCA1.

  2014cites this paper
• In Silico Analysis of miRNA-Mediated Gene Regulation in OCA and OA Genes

  2014cites this paper
• Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits

  2014cites this paper
• Molecular and Genetic Insights on Oculocutaneous Albinism

  2014cites this paper
• Increasing the complexity: new genes and new types of albinism

  2014cites this paper
• Molecular Genetic Testing for Carrier-Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1

  2014cites this paper
• Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

  2013influential citation
• The tiger genome and comparative analysis with lion and snow leopard genomes

  2013cites this paper
• [Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].

  2013cites this paper
• Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant

  2013cites this paper
• Mutational analysis of TYR gene and its structural consequences in OCA1A.

  2013cites this paper