albinism

Summary

Summary: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

Top Publications

  1. ncbi Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism
    Meredith E Protas
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:107-11. 2006
  2. ncbi The Tyr (albino) locus of the laboratory mouse
    Friedrich Beermann
    ISREC, National Center of Competence in Research NCCR Molecular Oncology, Chemin des Boveresses 155, 1066 Epalinges, Switzerland
    Mamm Genome 15:749-58. 2004
  3. pmc Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina
    Rivka A Rachel
    Center for Neurobiology and Behavior, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Neurosci 22:4249-63. 2002
  4. ncbi A Tyrosinase missense mutation causes albinism in the Wistar rat
    Wanda M Blaszczyk
    General Zoology and Neurobiology, Ruhr University, 44780 Bochum, Germany
    Pigment Cell Res 18:144-5. 2005
  5. pmc Retinal ganglion cell axonal compression by retinal vessels in light-induced retinal degeneration
    Diego García-Ayuso
    Laboratorio de Oftalmologia Experimental, Facultad de Medicina, Universidad de Murcia, Campus de Espinardo, 30100 Espinardo, Murcia, Spain
    Mol Vis 17:1716-33. 2011
  6. ncbi Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)
    L A Lyons
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616, USA
    Anim Genet 36:119-26. 2005
  7. ncbi Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin
    Alfonso Lavado
    Centro Nacional de Biotecnologia CNB CSIC, Department of Molecular and Cellular Biology, Campus de Cantoblanco, Madrid, Spain
    J Neurochem 96:1201-11. 2006
  8. ncbi Serendipity and the Siamese cat: the discovery that genes for coat and eye pigment affect the brain
    Jon H Kaas
    Department of Psychology, Vanderbilt University, Nashville, TN, USA
    ILAR J 46:357-63. 2005
  9. pmc Eye-specific projections of retinogeniculate axons are altered in albino mice
    Alexandra Rebsam
    Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Neurosci 32:4821-6. 2012
  10. pmc Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation
    D L Imes
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis 95616, USA
    Anim Genet 37:175-8. 2006

Detail Information

Publications189 found, 100 shown here

  1. ncbi Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism
    Meredith E Protas
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:107-11. 2006
    ..We focused on the trait of albinism and discovered that it is linked to Oca2, a known pigmentation gene, in two cave populations...
  2. ncbi The Tyr (albino) locus of the laboratory mouse
    Friedrich Beermann
    ISREC, National Center of Competence in Research NCCR Molecular Oncology, Chemin des Boveresses 155, 1066 Epalinges, Switzerland
    Mamm Genome 15:749-58. 2004
    ..We compare eye and skin pigmentation phenotypes and the genetic lesions that cause each. We suggest that this panel of congenic mutants contains rich, untapped resources for the study of many questions of basic cell biological interest...
  3. pmc Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina
    Rivka A Rachel
    Center for Neurobiology and Behavior, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Neurosci 22:4249-63. 2002
    ..These results point to spatiotemporal defects in neuronal production in the albino retina, which could perturb expression of genes that specify cell fate, number, and/or projection phenotype...
  4. ncbi A Tyrosinase missense mutation causes albinism in the Wistar rat
    Wanda M Blaszczyk
    General Zoology and Neurobiology, Ruhr University, 44780 Bochum, Germany
    Pigment Cell Res 18:144-5. 2005
    ..In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye...
  5. pmc Retinal ganglion cell axonal compression by retinal vessels in light-induced retinal degeneration
    Diego García-Ayuso
    Laboratorio de Oftalmologia Experimental, Facultad de Medicina, Universidad de Murcia, Campus de Espinardo, 30100 Espinardo, Murcia, Spain
    Mol Vis 17:1716-33. 2011
    ..To analyze the damage produced by light in mydriatic and miotic albino retinas under two different sources of light...
  6. ncbi Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)
    L A Lyons
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616, USA
    Anim Genet 36:119-26. 2005
    ..Because the same mutations were identified in different breeds with similar phenotypes, the mutations are likely to be identical by descent rather than multiple mutation events occurring at the same site...
  7. ncbi Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin
    Alfonso Lavado
    Centro Nacional de Biotecnologia CNB CSIC, Department of Molecular and Cellular Biology, Campus de Cantoblanco, Madrid, Spain
    J Neurochem 96:1201-11. 2006
    ..Tyrosinase, the primary enzyme in melanin synthesis commonly mutated in albinism, oxidizes l-tyrosine to l-dopaquinone using l-3,4-dihydroxyphenylalanine (L-DOPA) as an intermediate product...
  8. ncbi Serendipity and the Siamese cat: the discovery that genes for coat and eye pigment affect the brain
    Jon H Kaas
    Department of Psychology, Vanderbilt University, Nashville, TN, USA
    ILAR J 46:357-63. 2005
    ..As a result, we have a better understanding of how the brain forms proper connections and of the neural basis of visual problems in albino humans...
  9. pmc Eye-specific projections of retinogeniculate axons are altered in albino mice
    Alexandra Rebsam
    Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Neurosci 32:4821-6. 2012
    ..In albinism, affected individuals exhibit a lack or reduction of pigmentation in the eye and skin, a concomitant reduced ..
  10. pmc Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation
    D L Imes
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis 95616, USA
    Anim Genet 37:175-8. 2006
    ..in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats...
  11. doi ERG changes in albino and pigmented mice after optic nerve transection
    Luis Alarcón-Martínez
    Departamento de Oftalmologia, Facultad de Medicina, Universidad de Murcia, 30100 Murcia, Spain
    Vision Res 50:2176-87. 2010
    ..These changes were maintained up to 12 weeks post-ONT, demonstrating that the ERG-STR is a useful parameter to monitor RGC functionality in adult mice...
  12. ncbi Albinism: classification, clinical characteristics, and recent findings
    C Gail Summers
    Department of Ophthalmology and Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Optom Vis Sci 86:659-62. 2009
    To describe the clinical characteristics and recent findings in the heterogeneous group of inherited disorders of melanin biosynthesis grouped as "albinism."
  13. ncbi Pigmentation predicts the shift in the line of decussation in humans with albinism
    Elisabeth A H von dem Hagen
    Department of Psychology, Royal Holloway, University of London, UK
    Eur J Neurosci 25:503-11. 2007
    In albinism a large proportion of nerve fibres originating in temporal retina cross the midline at the chiasm and project to the contralateral hemisphere...
  14. doi Albinism in Africa: stigma, slaughter and awareness campaigns
    Andres E Cruz-Inigo
    Scripps Mercy Hospital, San Diego, CA 92103, USA
    Dermatol Clin 29:79-87. 2011
    Oculocutaneous albinism is an autosomal recessive disorder characterized by a lack of pigment in the hair, skin, and eyes. Albinism is caused by defective or absent tyrosinase, an enzyme necessary for melanogenesis...
  15. pmc Molecular basis of dark-eyed albinism in the mouse
    A Schmidt
    Swiss Institute for Experimental Cancer Research ISREC, Epalinges
    Proc Natl Acad Sci U S A 91:4756-60. 1994
    ..14.18.1), the key enzyme in melanin synthesis. Similar to type IB oculocutaneous albinism in humans, overall production of pigment is greatly reduced in dark-eyed albino mice and obvious only in the eyes...
  16. ncbi The tyrosinase gene in gorillas and the albinism of 'Snowflake'
    R Martinez-Arias
    Unitat de Biologia Evolutiva, Facultat de Ciencies de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain
    Pigment Cell Res 13:467-70. 2000
    ..One of the gorillas included in the study is the only known case of albinism in a gorilla ('Snowflake')...
  17. ncbi Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism
    R A Spritz
    Department of Medical Genetics, University of Wisconsin, Madison 53706
    N Engl J Med 322:1724-8. 1990
  18. ncbi Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Hum Mutat 13:99-115. 1999
    b>Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin ..
  19. ncbi Fitness loss and germline mutations in barn swallows breeding in Chernobyl
    H Ellegren
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala
    Nature 389:593-6. 1997
    ..Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding ..
  20. ncbi Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance
    M Del Campo
    Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California 92103 8446, USA
    Am J Med Genet 85:479-85. 1999
    We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy...
  21. ncbi Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections
    Tomohiro Chiyonobu
    Department of Pediatrics, Matsushita Memorial Hospital, Osaka, Japan
    Am J Med Genet 109:61-6. 2002
    A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy...
  22. ncbi Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
    S T Lee
    Department of Medical Genetics, University of Wisconsin, Madison 53706
    N Engl J Med 330:529-34. 1994
    Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13...
  23. ncbi Retinal abnormalities in human albinism translate into a reduction of grey matter in the occipital cortex
    Elisabeth A H von dem Hagen
    Department of Psychology Royal Holloway, University of London, Egham, Surrey TW20 0EX, UK
    Eur J Neurosci 22:2475-80. 2005
    b>Albinism is a genetic condition associated with abnormalities of the visual system...
  24. ncbi Initiation codon mutation of the tyrosinase gene as a cause of human albinism
    L H Breimer
    Department of Chemical Pathology and Human Metabolism, Royal Free Hospital School of Medicine, London, UK
    Clin Chim Acta 227:17-22. 1994
    ..exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the ..
  25. ncbi High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
    Shiro Ito
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 125:715-20. 2005
    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal accumulation of ceroid-like material...
  26. pmc A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
    W Tietz
    Am J Hum Genet 15:259-64. 1963
  27. pmc A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism
    L B Giebel
    Department of Medical Genetics, University of Wisconsin, Madison 53706
    Proc Natl Acad Sci U S A 87:3255-8. 1990
    ..a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC ..
  28. doi Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation
    R Anistoroaei
    Division of Animal Genetics and Bioinformatics, Department of Basic Animal and Veterinary Sciences, The Faculty of Life Sciences, University of Copenhagen, Groennegaardsvej 3, DK 1870 Frederiksberg C, Denmark
    Anim Genet 39:645-8. 2008
    ..are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the predicted region of the TYR gene...
  29. ncbi Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
    Y Tomita
    Department of Applied Physiology, Tohoku University School of Medicine, Miyagi, Japan
    Biochem Biophys Res Commun 164:990-6. 1989
    Tyrosinase-negative oculocutaneous albinism (OCA) is an inborn error of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin. We have isolated and characterized the tyrosinase gene of one affected child (S...
  30. ncbi Molecular characterization of the mouse tyrosinase gene: pigment cell-specific expression in transgenic mice
    F Beermann
    Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg
    Pigment Cell Res 5:295-9. 1992
    ..Our results suggest that sequences in the immediate vicinity of the mouse tyrosinase gene are sufficient to provide cell type-specificity and developmental regulation in melanocytes and the pigment epithelium...
  31. doi A developmental analysis of periodic albinism in the amphibian Xenopus laevis
    Gerald W Eagleson
    Dept Cellular Animal Physiology, Donders Institute for Brain, Cognition and Behaviour, European Graduate School of Neuroscience, Radboud University Nijmegen, Faculty of Science, Heyendaalseweg 135, 6525 AJ Nijmegen, The Netherlands
    Gen Comp Endocrinol 168:302-6. 2010
    ..The purpose of the present study was to determine to which degree the albinism is intrinsic to the melanophore or involves neuroendocrine malfunction...
  32. ncbi Current understanding on the role of retinal pigment epithelium and its pigmentation
    U Schraermeyer
    Department of Vitreoretinal Surgery, University of Cologne, Germany
    Pigment Cell Res 12:219-36. 1999
    ..Most of these functions are not yet understood. Deficit of melanin pigment is associated with age-related macula degeneration, the leading cause of blindness...
  33. ncbi Linking albinism and immunity: the secrets of secretory lysosomes
    Jane Stinchcombe
    Sir William Dunn School of Pathology, South Parks Road, Oxford OX1 3RE, UK
    Science 305:55-9. 2004
    ..Melanosomes also use a lysosome-related organelle to secrete melanin for pigmentation. Links between albinism and immunity in patients have uncovered a number of key proteins required for lysosomal secretion and have ..
  34. ncbi Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)
    J Amiel
    Unité de Recherces sur les Handicaps Génétiques de l Enfant INSERM U 393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hopital des Enfants Malades, Paris, France
    Clin Dysmorphol 7:17-20. 1998
    A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported...
  35. ncbi Basal cell carcinoma in five albino Africans from the south-eastern equatorial rain forest of Nigeria
    Maurice E Asuquo
    Department of Surgery, University of Calabar Teaching Hospital, Calabar, Nigeria
    Int J Dermatol 46:754-6. 2007
    Basal cell carcinoma (BCC) is the most common cutaneous malignancy in the white population and occurs infrequently in dark-pigmented individuals. Albinism is an established risk factor for skin cancer in black Africans.
  36. ncbi A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85
    S Shibahara
    Department of Applied Physiology, Tohoku University School of Medicine, Sendai, Japan
    Eur J Biochem 189:455-61. 1990
    Murine albinism is characterized by complete lack of melanin pigments in skin and retina. In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c)...
  37. ncbi Health and education of children with albinism in Zimbabwe
    P M Lund
    School of Natural and Environmental Sciences, Coventry University, Priory Street, Coventry CV1 5FB, UK
    Health Educ Res 16:1-7. 2001
    b>Albinism is a relatively common genetic condition in Zimbabwe, a tropical country in southern Africa. Those affected have little pigment in their hair, skin or eyes, in sharp contrast to the normal dark pigmentation...
  38. pmc Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter
    Shoji Fukamachi
    Department of Integrated Biosciences, University of Tokyo, Chiba, Japan
    Genetics 178:761-9. 2008
    Patients and vertebrate mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene-phenotype relationship...
  39. ncbi Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism
    N Le Fur
    Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Genomics 37:245-8. 1996
    ..Although the tyrosinase mRNA levels are similar in c2j and wildtype, the protein is virtually absent in c2j, as in c, possibly due to proteolytic degradation...
  40. ncbi Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paper
    Julie S Taylor
    School of Nursing and Midwifery, University of Dundee, Dundee, DD1 4HJ, UK
    Int J Nurs Stud 45:1247-56. 2008
    ..b>Albinism, a genetic condition of reduced melanin synthesis, is a major public health issue in southern Africa...
  41. ncbi Albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Curr Opin Pediatr 11:565-71. 1999
    b>Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis...
  42. ncbi Architecture of the optic chiasm and the mechanisms that sculpt its development
    G Jeffery
    University College London, Institute of Ophthalmology, London, United Kingdom
    Physiol Rev 81:1393-414. 2001
    ..Furthermore, in albinos, where many cells do not exit the cell cycle at normal times, there are systematic chiasmatic abnormalities in ganglion cell projections...
  43. ncbi A form of albinism in cattle is caused by a tyrosinase frameshift mutation
    Sheila M Schmutz
    Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Saskatchewan, Canada S7N 5A8
    Mamm Genome 15:62-7. 2004
    ..Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle...
  44. ncbi A health intervention programme for children with albinism at a special school in South Africa
    Patricia M Lund
    Biosciences, Coventry University, UK
    Health Educ Res 17:365-72. 2002
    The genetic condition albinism has a high frequency among the Sotho people of northern South Africa. Affected children have pale hair, eyes and skin-a dramatic contrast to the normal dark pigmentation...
  45. ncbi Albinism and phenotype of barn swallows (Hirundo rustica) from Chernobyl
    A P Møller
    Laboratoire d Ecologie Evolutive Parasitaire, Centre National de la Recherche Scientifique, Formation en Recherche de la Evolution 2365, Universite Pierre et Marie Curie, Case, Paris, France
    Evolution 55:2097-104. 2001
    ..Barn swallows from Chernobyl had a temporally constant, elevated frequency of partial albinism compared to the situation before radioactive contamination and compared to birds from a control area...
  46. ncbi The molecular genetics of albinism and piebaldism
    Y Tomita
    Department of Dermatology, Akita University School of Medicine, Japan
    Arch Dermatol 130:355-8. 1994
    Oculocutaneous albinism (OCA) is an autosomal-recessive genetic disorder defined by hypomelanosis in the eyes, hair, and skin. Piebaldism is an autosomal-dominant congenital leukoderma associated with a white forelock...
  47. ncbi Syndromic albinism: a review of genetics and phenotypes
    Noah S Scheinfeld
    Department of Dermatology, St Luke s Roosevelt Hospital Center, New York, USA
    Dermatol Online J 9:5. 2003
    There are several syndromes of albinism associated with systemic pathology...
  48. ncbi Skin cancer in African albinos
    A Yakubu
    Department of Surgery, Ahmadu Bello University Hospital, Zaria, Nigeria
    Acta Oncol 32:621-2. 1993
    ..No cases of cutaneous melanoma or Kaposi sarcoma were found in the albino group...
  49. pmc Short and long term axotomy-induced ERG changes in albino and pigmented rats
    Luis Alarcón-Martínez
    Departamento de Oftalmologia, Facultad de Medicina, Universidad de Murcia, 30100 Murcia, Spain
    Mol Vis 15:2373-83. 2009
    ..To investigate the different components of full-field flash electroretinogram (ERG) responses in adult albino and pigmented rats at various time intervals following optic nerve transection (ONT)...
  50. pmc Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I
    Y Shiloh
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel
    Am J Hum Genet 47:20-7. 1990
    X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness...
  51. pmc Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice
    T Yokoyama
    Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030
    Nucleic Acids Res 18:7293-8. 1990
    b>Albinism, due to a lack of melanin pigment, is one of the oldest known mutations in mice. Tyrosinase (monophenol oxygenase, EC 1.14.18...
  52. pmc Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity
    R Halaban
    Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510
    Proc Natl Acad Sci U S A 87:4809-13. 1990
    ..14.18.1), and defective tyrosinase leads to albinism. The mechanisms for other pigmentation determinants (e.g...
  53. ncbi Mutation analysis of the tyrosinase gene in oculocutaneous albinism
    O Camand
    Centre Hospitalier Régional et Universitaire Ponchaillou, Rennes, France
    Hum Mutat 17:352. 2001
    Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by the reduction or the absence of tyrosinase (TYR) activity in melanocytes of the skin, hair and eyes. Here we report an analysis of 45 patients with OCA...
  54. ncbi Horizontal cell density and mosaic regularity in pigmented and albino mouse retina
    Mary A Raven
    Neuroscience Research Institute and Department of Psychology, University of California at Santa Barbara, Santa Barbara, California 93106 5060, USA
    J Comp Neurol 454:168-76. 2002
    ....
  55. ncbi [Anatomical differences in optic nerve, chiasma and tractus opticus in human albinism as demonstrated by standardised clinical and MRI evaluation]
    Barbara Käsmann-Kellner
    Universitats Augenklinik, Homburg Saar
    Klin Monbl Augenheilkd 220:334-44. 2003
    There has been long-standing clinical and electrophysiological evidence that in patients with albinism the visual pathways cross atypically: most fibres from one eye cross to the contralateral visual cortex...
  56. ncbi Antigens derived from melanocyte differentiation proteins: self-tolerance, autoimmunity, and use for cancer immunotherapy
    Victor H Engelhard
    Carter Immunology Center and Department of Microbiology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA
    Immunol Rev 188:136-46. 2002
    ..This model also allows the rapid and systematic examination of parameters for the effective use of synthetic peptide vaccines...
  57. ncbi Absorption, distribution and excretion of 14C-levofloxacin after single oral administration in albino and pigmented rats: binding characteristics of levofloxacin-related radioactivity to melanin in vivo
    Makoto Tanaka
    Drug Metabolism and Physicochemical Property Research Laboratory, Daiichi Pharmaceutical Co Ltd, 16 13, Kita Kasai 1 Chome, Edogawa ku, Tokyo 134 8630, Japan
    J Pharm Pharmacol 56:463-9. 2004
    ..It is unlikely that levofloxacin causes toxicity because of its much lower affinity to melanin-containing ocular tissues and shorter duration of therapy compared to chloroquine...
  58. ncbi Melanocytes: the new Black
    Colin R Goding
    Signalling and Development Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 0TL, United Kingdom
    Int J Biochem Cell Biol 39:275-9. 2007
    ..to produce pigment, or transport or transfer melanosomes is associated with several diseases such as vitiligo, albinism and Hermansky-Pudlak syndrome...
  59. ncbi FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis
    V Errijgers
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Genes Brain Behav 6:552-7. 2007
    ..synthesis in skin and eye and of cyclic guanosine monophosphate phosphodiesterase gene defects, which results in albinism (Tyr(c/c)) and retinal degeneration (Pde6b(rd1/rd1)), respectively...
  60. pmc Retinal projections to the subcortical visual system in congenic albino and pigmented rats
    M D Fleming
    Department of Comparative Biosciences, University of Wisconsin, 2015 Linden Drive, Madison, WI 53706 1102, USA
    Neuroscience 143:895-904. 2006
    ..We used a congenic strain of albino and pigmented rats with a mutation at the c locus for albinism (Fischer 344-c/+; LaVail MM, Lawson NR (1986) Development of a congenic strain of pigmented and albino rats for ..
  61. ncbi Early midline interactions are important in mouse optic chiasm formation but are not critical in man: a significant distinction between man and mouse
    Magella M Neveu
    Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Eur J Neurosci 23:3034-42. 2006
    ..We suggest that mouse models of the organization and development of the optic chiasm are not common to placental mammals in general...
  62. ncbi Color reversion of the albino medaka fish associated with spontaneous somatic excision of the Tol-1 transposable element from the tyrosinase gene
    Makiko Tsutsumi
    Division of Biological Sciences, Graduate School of Science, Nagoya University, Japan
    Pigment Cell Res 19:243-7. 2006
    ..The pattern of pigmentation in mosaic revertants indicates frequencies of melanin pigments to be consistent with the numbers of melanophores per unit area of body sites, such as the eyes, head and dorsal trunk...
  63. ncbi Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice
    G Jeffery
    Institute of Ophthalmology, London University, United Kingdom
    Dev Biol 166:460-4. 1994
    ..The establishment of the transgenic model provides a unique tool with which to investigate the way in which melanin shapes this region of the developing mammalian visual system...
  64. ncbi Light-induced alterations of retinal pigment epithelium in black, albino, and beige mice
    W G Robison
    Exp Eye Res 22:549-57. 1976
  65. ncbi Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
    V Alexeev
    Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University and Jefferson Medical College, Philadelphia PA 19107, USA
    Nat Biotechnol 18:43-7. 2000
    ..Localized gene correction was maintained three months after the last application of the chimeric oligonucleotides. These results demonstrated correction of the tyrosinase gene point mutation by chimeric oligonucleotides in vivo...
  66. pmc Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus
    B S Kwon
    Molecular Genetics Laboratory, Guthrie Research Institute, Sayre, PA 18840
    Proc Natl Acad Sci U S A 84:7473-7. 1987
    ..Southern blot analysis of DNA derived from newborn mice carrying lethal albino deletion mutations revealed that Pmel34 maps near or at the c-albino locus, the position of the structural gene for tyrosinase...
  67. ncbi Molecular basis of mouse Himalayan mutation
    B S Kwon
    Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis 46223
    Biochem Biophys Res Commun 161:252-60. 1989
    ..These results indicate the possibility that the altered residue at amino acid 420 of mouse tyrosinase may be important in stabilization of the tyrosinase molecule, or in interaction with other molecules, such as tyrosinase inhibitors...
  68. ncbi New animal models to study the role of tyrosinase in normal retinal development
    Alfonso Lavado
    Department of Molecular and Cellular Biology, Centro Nacional de Biotecnologia CNB CSIC, Campus de Cantoblanco, C Darwin 3, 28049 Madrid, Spain
    Front Biosci 11:743-52. 2006
    ..Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene...
  69. ncbi A critical review of the function of neuromelanin and an attempt to provide a unified theory
    Bruno J R Nicolaus
    International College of Neuropsychopharmacology, Via Crescitelli, 6, I 20052 Monza, Italy
    Med Hypotheses 65:791-6. 2005
    ..b>Albinism often leads to deafness in animals, indicating a genetic correlation...
  70. ncbi Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene
    B S Kwon
    Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis 46202 5120
    J Invest Dermatol 93:589-94. 1989
    ..Mouse tyrosinase mRNA is approximately 2.4 Kb in size. The amount of tyrosinase mRNA reflects the levels of tyrosinase activity in normal melanocytes and Cloudman S-91 melanoma cell line...
  71. ncbi Protein kinase C immunoreactivity in the pigmented and albino rat retina
    Gary E Baker
    Department of Optometry and Visual Science, City University, Northampton Square, London EC1V 0HB, UK
    Eur J Neurosci 22:2481-8. 2005
    ....
  72. ncbi Elevated free calcium levels in the subretinal space elevate the absolute dark-adapted threshold in hypopigmented mice
    C R Lavallee
    Biology Department, Boston College, Chestnut Hill, Massachusetts 02467, USA
    J Neurophysiol 90:3654-62. 2003
    ..The results of these experiments are consistent with the hypothesis that ocular hypopigmentation causes elevated calcium levels in the subretinal space that in turn mimic light adaptation in hypopigmented mice...
  73. ncbi [High myopia and retinal ultrastructure of albino guinea-pigs]
    Jie Yue Wang
    Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 32:282-7. 2007
    ..To explore the relationship between melanin synthesis and the congenital high myopia of albino guinea-pigs...
  74. ncbi The tyrosinase gene of the i(b) albino mutant of the medaka fish carries a transposable element insertion in the promoter region
    Atsuo Iida
    Division of Biological Science, Graduate School of Science, Nagoya University, Nagoya, Japan
    Pigment Cell Res 17:158-64. 2004
    ..The i(b) allele at this locus, also denoted as i( 5), causes oculocutaneous albinism in homozygous carriers...
  75. ncbi Spotting genes and internal pigmentation patterns in the mouse
    M S Deol
    J Embryol Exp Morphol 26:123-33. 1971
  76. ncbi Three spontaneous mutations at the albino locus in SELH/Bc mice
    D M Juriloff
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Genome 37:190-7. 1994
    ..SELH/Bc mice may provide an animal model for the study of mechanisms underlying genetic instability...
  77. ncbi A multivariate analysis of repeated measures: linkage of the albinism gene (Tyr) to a QTL influencing ethanol-induced anesthesia in laboratory mice
    P D Markel
    Institute for Behavioral Genetics, University of Colorado, Boulder 80309 0447
    Psychiatr Genet 4:205-10. 1994
    ..was used to establish linkage of a quantitative trait locus influencing ethanol-induced anesthesia to the albinism gene (Tyr) in mouse...
  78. ncbi The mosaic structure of variation in the laboratory mouse genome
    Claire M Wade
    Whitehead Institute for Biomedical Research and Whitehead MIT Center for Genome Research, 9 Cambridge Center, Cambridge, Massachusetts 02139, USA
    Nature 420:574-8. 2002
    ..These observations have important implications for the design and interpretation of positional cloning experiments...
  79. ncbi Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci
    A Schmidt-Küntzel
    Basic Research Program, SAIC Frederick, NCI Frederick, Frederick, MD 21702, USA
    J Hered 96:289-301. 2005
    ....
  80. ncbi Organization of the visual cortex in human albinism
    Michael B Hoffmann
    Department of Psychology, Royal Holloway, University of London, Egham, Surrey TW20 OEX, United Kingdom
    J Neurosci 23:8921-30. 2003
    In albinism there is an abnormal projection of part of the temporal retina to the visual cortex contralateral to the eye...
  81. ncbi Variation in visual acuity within pigmented, and between pigmented and albino rat strains
    Glen T Prusky
    Department of Psychology and Neuroscience, Canadian Centre for Behavioural Neuroscience, University of Lethbridge, 4401 University Drive, Lethbridge, AB, Canada T1K 3M4
    Behav Brain Res 136:339-48. 2002
    ..domestication has negatively affected the visual function of laboratory rat strains, what the effects of strain albinism are on rat visual function, or whether there are strain differences in the visual function of laboratory rats ..
  82. ncbi Age-associated changes in the serotonergic system in rat superior colliculus and pretectum
    M J Parsons
    Department of Psychiatry, University of Wisconsin, Madison, WI, USA
    Brain Res Bull 55:435-44. 2001
    ..These data suggest that the age-related changes in the serotonergic system in the superior colliculus and pretectum may account for some of the alterations in light-mediated behaviors with aging...
  83. ncbi Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish
    S C Neuhauss
    Max Planck Institut fur Entwicklungsbiologie, Abteilung Physikalische Biologie, D 72076 Tubingen, Germany
    J Neurosci 19:8603-15. 1999
    ..The mutations uncovered by our behavioral assays provide distinct entry points for the study of visual pathways and set the stage for a genetic dissection of vertebrate vision...
  84. ncbi Abnormal retinotopic representations in human visual cortex revealed by fMRI
    A B Morland
    Psychology Department, University of London, Royal Holloway, Egham, Surrey TW20 0EX, UK
    Acta Psychol (Amst) 107:229-47. 2001
    ..This is consistent with abnormal decussation at the optic chiasm in albinism. Finally, we report a case where a lesion to white matter has resulted in a lack of measurable activity in ..
  85. ncbi An albino-like decussation error in the optic chiasm revealed by anomalous ocular dominance columns
    Lawrence C Sincich
    Beckman Vision Center, University of California San Francisco, San Francisco 94143 0730, USA
    Vis Neurosci 19:541-5. 2002
    ....
  86. ncbi Trophic factors and neuronal interactions regulate the cell cycle and Pax6 expression in Müller stem cells
    M Fernanda Insua
    Instituto de Investigaciones Bioquimicas INIBIBB, CONICET and Universidad Nacional del Sur, Bahia Blanca, Argentina
    J Neurosci Res 86:1459-71. 2008
    ....
  87. pmc Rod sensitivity of neonatal mouse and rat
    Dong Gen Luo
    Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Gen Physiol 126:263-9. 2005
    ..Overall, we were unable to confirm a previous report that a 50-fold difference in rod sensitivity existed between neonatal and adult rats...
  88. ncbi Pigmented melanocytes are protected against ultraviolet-A-induced membrane damage
    Egil Kvam
    Department of Biophysics, The Norwegian Radium Hospital, Montebello, 0310 Oslo, Norway
    J Invest Dermatol 121:564-9. 2003
    ..Thus, pigmented melanocytes apparently contain antioxidants more potent than glutathione, protecting them from ultraviolet-A-induced membrane damage...
  89. ncbi GABA content in the retina of pigmented and albino rats
    W M Blaszczyk
    Allgemeine Zoologie and Neurobiologie, Ruhr Universitat Bochum, 44780 Bochum, Germany
    Neuroreport 15:1141-4. 2004
    Reduction of the melanin precursor DOPA associated with albinism leads to spatiotemporal disturbances in retinal neurogenesis and thus seems to be responsible for numerous neuronal alterations found in albino retinae...
  90. ncbi Optokinetic deficits in albino ferrets (Mustela putorius furo): a behavioral and electrophysiological study
    Klaus Peter Hoffmann
    Allgemeine Zoologie und Neurobiologie, Ruhr Universitat Bochum, Postfach 102148, D 44780 Bochum, Germany
    J Neurosci 24:4061-9. 2004
    ..Thus, the defect rendering albino ferrets optokinetically nonresponsive is located in the visual pathway subserving the OKR, namely in or before the NOT-DTN, and not in oculomotor centers...
  91. ncbi Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients
    Gael Menasche
    Unité de Recherche sur le Développement Normal et Pathologique du Système Immunitaire Institut National de la Santé et de la Recherche Médicale U429, Hopital Necker Enfants Malades, Paris, France
    Blood 101:2736-42. 2003
    ..in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome...
  92. ncbi [Morphology of the optic chiasm in albinism]
    B Schmitz
    Klinik für Diagnostische und Interventionelle Radiologie, Universitätskliniken Ulm, Steinhovelstrasse 9, 89075, Ulm, Deutschland
    Ophthalmologe 104:662-5. 2007
    b>Albinism is associated with a misrouting of fibers at the optic chiasm where the majority of fibers cross to the contralateral side...
  93. ncbi New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography
    Hisao Ohde
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
    Vision Res 44:1033-8. 2004
    In humans with albinism, a large percentage of the ganglion cell axons from the temporal retina decussate abnormally in the chiasm and synapse in the contralateral LGN...
  94. ncbi Age-related changes in the dynamics of human albino visual pathways
    Magella M Neveu
    Department of Electrophysiology, Moorfields Eye Hospital, City Road, London EC1V 2PD, UK
    Eur J Neurosci 18:1939-49. 2003
    ..These changes have implications for our understanding of development and plasticity of the central visual pathways...
  95. ncbi [Abnormal representations in the visual cortex of patients with albinism: diagnostic aid and model for the investigation of the self-organisation of the visual cortex]
    M B Hoffmann
    Sektion für klinische und experimentelle Sinnesphysiologie, Universitätsaugenklinik Magdeburg, Leipziger Strasse 44, 39120, Magdeburg, Deutschland
    Ophthalmologe 104:666-73. 2007
    A characteristic feature of patients with albinism is the misrouting of the optic nerves, which causes the visual cortex to receive an abnormal input...
  96. pmc Oculocutaneous albinism
    Karen Grønskov
    Kennedy Center, National Research Center for Genetics, visual Impairment and Mental Retardation, GL, Landevej 7, 2600 Glostrup, Denmark
    Orphanet J Rare Dis 2:43. 2007
    Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes...
  97. ncbi Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
    Fortunato Lonardo
    U O C di Genetica Medica, A O R N Gaetano Rummo, S S di Citogenetica Medica e Genetica Molecolare, Via dell Angelo, 1, I 82100 Benevento, Italy
    Eur J Med Genet 50:301-8. 2007
    ..manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation...
  98. pmc An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
    R E Schnur
    Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104 6072
    Am J Hum Genet 45:706-20. 1989
    Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers...
  99. ncbi Features of severe periodontal disease in a teenager with Chédiak-Higashi syndrome
    E M Delcourt-Debruyne
    Faculté d Odontologie, Departement de parodontologie, Université Lille, France
    J Periodontol 71:816-24. 2000
    ..The complete syndrome includes oculocutaneous albinism with photophobia, neurologic features, recurrent infections, and enterocolitis.
  100. pmc Deletion in the OA1 gene in a family with congenital X linked nystagmus
    M Preising
    Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, University of Regensburg, 93042 Regensburg, Germany
    Br J Ophthalmol 85:1098-103. 2001
    To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them.
  101. ncbi Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan
    Y Tomita
    Department of Dermatology, Nagoya University School of Medicine, Japan
    Pigment Cell Res 13:130-4. 2000
    ..of enzymes functional in melanogenesis such as tyrosinase, P protein and DHICA oxidase, result in oculocutaneous albinism (OCA) 1, OCA 2, and OCA 3, respectively...

Research Grants75

  1. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Albinism is a heterogeneous group of genetic disorders characterized by reduced or absent melanin pigmentation, mainly involving the eyes, skin, and hair...
  2. Hermansky Pudlak Syndrome & melanosome formation
    GRACA GRACA RAPOSO; Fiscal Year: 2010
    ..Defects in melanosome formation cause oculocutaneous albinism (OCA), a condition associated with impaired vision and enhanced cancer susceptibility in the skin and eye...
  3. A reconstructed skin model for development of treatments for albinism
    Seth Orlow; Fiscal Year: 2009
    ..Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder resulting from mutations in the OCA2 gene...
  4. A reconstructed skin model for development of treatments for albinism
    Seth J Orlow; Fiscal Year: 2010
    ..Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder resulting from mutations in the OCA2 gene...
  5. DIFFERENTIATION OF NEURAL CREST CELLS IN VITRO
    Maya Sieber Blum; Fiscal Year: 1993
    ..g. cleft lip/cleft palate), congenital defects of the cardiac outflow tract, and pigmentation disorders (e.g., albinism)...
  6. X-LINKED OCULAR ALBINISM & RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 1991
    ..to characterize the molecular basis of mutations responsible for two inherited X- linked eye diseases - Ocular Albinism (OA1) and Retinitis Pigmentosa (RP2) which are localized on the short arm of X- chromosome...
  7. BIOGENESIS OF MELANOSOMES
    Seth J Orlow; Fiscal Year: 2012
    ..Tyrosinase has also been implicated in genetic disorders such as oculocutaneous albinism (OCA), in autoimmune diseases such as vitiligo, and in melanoma, and may be a modifier locus for primary ..
  8. Hermansky Pudlak Syndrome & melanosome formation
    Michael Marks; Fiscal Year: 2009
    ..Defects in melanosome formation cause oculocutaneous albinism (OCA), a condition associated with impaired vision and enhanced cancer susceptibility in the skin and eye...
  9. MOLECULAR GENETICS OF HERMANSKY PUDLAK IN PUERTO RICO
    CARMAN CADILLA; Fiscal Year: 2000
    ..The Hermansky-Pudlak syndrome (HPS) [MIM#203300] is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding tendency, and a ceroid-lipofuscin-like lysosomal storage disease...
  10. Transgenic/Molecular Approaches for Ocular Albinism
    Debora Farber; Fiscal Year: 2004
    ..While much is known about the neural phenotype associated with ocular albinism (OA) and related hypopigmentation conditions affecting the retinal pigment epithelium (RPE), how these changes ..
  11. Transgenic/Molecular Approaches for Ocular Albinism
    Debora Farber; Fiscal Year: 2006
    ..While much is known about the neural phenotype associated with ocular albinism (OA) and related hypopigmentation conditions affecting the retinal pigment epithelium (RPE), how these changes ..
  12. Transgenic/Molecular Approaches for Ocular Albinism
    Debora Farber; Fiscal Year: 2003
    ..While much is known about the neural phenotype associated with ocular albinism (OA) and related hypopigmentation conditions affecting the retinal pigment epithelium (RPE), how these changes ..
  13. Transgenic/Molecular Approaches for Ocular Albinism
    Debora Farber; Fiscal Year: 2005
    ..While much is known about the neural phenotype associated with ocular albinism (OA) and related hypopigmentation conditions affecting the retinal pigment epithelium (RPE), how these changes ..
  14. Signal Transduction Mechanisms in Ocular Albinism
    Vinit Mahajan; Fiscal Year: 2005
    Signal Transduction Mechanisms in Ocular Albinism Patients with X-linked ocular albinism type 1 display decreased pigmentation of ocular tissues and suffer a characteristic series of traits that includes poor visual acuity, nystagmus, ..
  15. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2005
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function; 2) Definition of the coordinatively unsaturated ..
  16. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2004
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function; 2) Definition of the coordinatively unsaturated ..
  17. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2002
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function; 2) Definition of the coordinatively unsaturated ..
  18. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2009
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function;2) Definition of the coordinatively unsaturated ..
  19. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2003
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function; 2) Definition of the coordinatively unsaturated ..
  20. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward I Solomon; Fiscal Year: 2010
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function;2) Definition of the coordinatively unsaturated ..
  21. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2006
    ..coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to differences in function; 2) Definition of the coordinatively unsaturated ..
  22. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2005
    ..pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS)...
  23. BIOGENESIS OF MELANOSOMES
    Seth J Orlow; Fiscal Year: 2010
    ..mechanisms that regulate melanin synthesis and characterize the pathogenesis of pigment-related disorders such as albinism. We will focus our efforts on the OCA2 gene, which is mutated in oculocutaneous albinism type 2, the most common ..
  24. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2004
    ..pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS)...
  25. BIOGENESIS OF MELANOSOMES
    Seth Orlow; Fiscal Year: 2009
    ..mechanisms that regulate melanin synthesis and characterize the pathogenesis of pigment-related disorders such as albinism. We will focus our efforts on the OCA2 gene, which is mutated in oculocutaneous albinism type 2, the most common ..
  26. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2007
    ..pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS)...
  27. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2003
    ..pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS)...
  28. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2006
    ..pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS)...
  29. ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES
    Raymond Boissy; Fiscal Year: 1999
    ..Syndrome (HPS) is a congenital, potentially fatal, multi-system disorder presenting with oculocutaneous albinism, a mild to severe bleeding diathesis, and ceroid storage disease...
  30. ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES
    Raymond Boissy; Fiscal Year: 2001
    ..Syndrome (HPS) is a congenital, potentially fatal, multi-system disorder presenting with oculocutaneous albinism, a mild to severe bleeding diathesis, and ceroid storage disease...
  31. ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES
    Raymond Boissy; Fiscal Year: 2002
    ..Syndrome (HPS) is a congenital, potentially fatal, multi-system disorder presenting with oculocutaneous albinism, a mild to severe bleeding diathesis, and ceroid storage disease...
  32. ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES
    Raymond Boissy; Fiscal Year: 2000
    ..Syndrome (HPS) is a congenital, potentially fatal, multi-system disorder presenting with oculocutaneous albinism, a mild to severe bleeding diathesis, and ceroid storage disease...
  33. ALBINISM
    Richard King; Fiscal Year: 1992
    Human deficiencies of pigment formation, including oculocutaneous albinism are common genetic abnormalities with severe cutaneous and optic system effects...
  34. Hermansky Pudlak Syndrome & melanosome formation
    Michael Marks; Fiscal Year: 2004
    ..Among the symptoms of HPS is oculocutaneous albinism due to malformation of melanosomes, lysosome-related organelles in eye pigment epithelia and melanocytes of the ..
  35. Hermansky Pudlak Syndrome & melanosome formation
    Michael Marks; Fiscal Year: 2006
    ..Among the symptoms of HPS is oculocutaneous albinism due to malformation of melanosomes, lysosome-related organelles in eye pigment epithelia and melanocytes of the ..
  36. Hermansky Pudlak Syndrome & melanosome formation
    Michael Marks; Fiscal Year: 2005
    ..Among the symptoms of HPS is oculocutaneous albinism due to malformation of melanosomes, lysosome-related organelles in eye pigment epithelia and melanocytes of the ..
  37. Hermansky Pudlak Syndrome & melanosome formation
    Michael Marks; Fiscal Year: 2007
    ..Among the symptoms of HPS is oculocutaneous albinism due to malformation of melanosomes, lysosome-related organelles in eye pigment epithelia and melanocytes of the ..
  38. GENETIC STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 1992
    ..of two quite different human genetic disorders of pigmentation; type I (tyrosinase-deficient) oculocutaneous albinism (OCA) and piebaldism...
  39. ALBINISM
    Richard King; Fiscal Year: 1990
    ..biochemical, and molecular features of genetic defects of human pigment formation, particularly oculocutaneous albinism. These studies will provide information which we hope will lead to methods of accurate diagnosis, therapy, and ..
  40. CELLULAR PROTEIN MATURATION AND DEGRADATION
    Daniel Hebert; Fiscal Year: 2002
    ..Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of ..
  41. CELLULAR PROTEIN MATURATION AND DEGRADATION
    Daniel Hebert; Fiscal Year: 2000
    ..Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of ..
  42. CELLULAR PROTEIN MATURATION AND DEGRADATION
    Daniel Hebert; Fiscal Year: 2001
    ..Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of ..
  43. CELLULAR PROTEIN MATURATION AND DEGRADATION
    Daniel Hebert; Fiscal Year: 2003
    ..Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of ..
  44. CELLULAR PROTEIN MATURATION AND DEGRADATION
    Daniel Hebert; Fiscal Year: 1999
    ..Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of ..
  45. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2005
    b>Albinism is a heterogeneous group of genetic disorders characterized by reduced or absent melanin pigmentation, mainly involving the eyes, skin, and hair...
  46. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2004
    b>Albinism is a heterogeneous group of genetic disorders characterized by reduced or absent melanin pigmentation, mainly involving the eyes, skin, and hair...
  47. A System for Study of Pediatric Visual Pathways
    Anne Fulton; Fiscal Year: 2004
    ..Investigations of the visual system in subjects with albinism and known genotypes are also planned in collaboration with Genetics...
  48. Spectroscopic Studies of Active Sites in Copper Proteins
    Edward Solomon; Fiscal Year: 2007
    ..with the similar coupled binuclear copper sites in hemocyanin, Ty, mutants of Ty associated with oculocutaneous albinism, and catechol oxidase related to differences in function; 2) Definition of the coordinatively unsaturated nature ..
  49. Pathfinding of Ganglion Cell Axons and Ocular Albinism
    Debora Farber; Fiscal Year: 2002
    DESCRIPTION: (Applicant's Abstract) Individuals with ocular albinism (OA) lack stereoscopic vision due to a reduction of the ipsilateral component of the optic tract and have deficient melanin levels in the retinal pigment epithelium (..
  50. Pathfinding of Ganglion Cell Axons and Ocular Albinism
    Debora Farber; Fiscal Year: 2001
    DESCRIPTION: (Applicant's Abstract) Individuals with ocular albinism (OA) lack stereoscopic vision due to a reduction of the ipsilateral component of the optic tract and have deficient melanin levels in the retinal pigment epithelium (..
  51. GROWTH AND GUIDANCE OF RETINAL AXONS
    Carol Mason; Fiscal Year: 2007
    ..chiasm also patterns binocular vision, and if RGC divergence is mis-apportioned in inherited defects such as albinism, reduced visual acuity and strabismus ensue...
  52. GROWTH AND GUIDANCE OF RETINAL AXONS
    Carol Mason; Fiscal Year: 2004
    ..chiasm also patterns binocular vision, and if RGC divergence is mis-apportioned in inherited defects such as albinism, reduced visual acuity and strabismus ensue...
  53. GROWTH AND GUIDANCE OF RETINAL AXONS
    Carol Mason; Fiscal Year: 2005
    ..chiasm also patterns binocular vision, and if RGC divergence is mis-apportioned in inherited defects such as albinism, reduced visual acuity and strabismus ensue...
  54. GROWTH AND GUIDANCE OF RETINAL AXONS
    Carol Mason; Fiscal Year: 2006
    ..chiasm also patterns binocular vision, and if RGC divergence is mis-apportioned in inherited defects such as albinism, reduced visual acuity and strabismus ensue...
  55. Adaptive Optics Imager for Study of Pediatric Retinal Disorders
    Anne Fulton; Fiscal Year: 2009
    ..Kenna) are designed to investigate the foveas in genotyped subjects with heritable conditions including albinism, Stargardt juvenile macular degeneration, and Usher syndrome which, like preterm birth and ROP, cause visual ..
  56. ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASE
    LUANNE PETERS; Fiscal Year: 2002
    ..HPS), defects in the lysosome-related organelles (melanosomes, platelet dense bodies, and lysosomes) result in albinism, prolonged bleeding, and lysosomal ceroid pigment deposition...
  57. ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASE
    LUANNE PETERS; Fiscal Year: 2005
    ..HPS), defects in the lysosome-related organelles (melanosomes, platelet dense bodies, and lysosomes) result in albinism, prolonged bleeding, and lysosomal ceroid pigment deposition...
  58. ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASE
    LUANNE PETERS; Fiscal Year: 2004
    ..HPS), defects in the lysosome-related organelles (melanosomes, platelet dense bodies, and lysosomes) result in albinism, prolonged bleeding, and lysosomal ceroid pigment deposition...
  59. ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASE
    LUANNE PETERS; Fiscal Year: 2003
    ..HPS), defects in the lysosome-related organelles (melanosomes, platelet dense bodies, and lysosomes) result in albinism, prolonged bleeding, and lysosomal ceroid pigment deposition...
  60. The platinum zebrafish is a model for studying vision defects caused by albinism
    Ryan Thummel; Fiscal Year: 2009
    b>Albinism is group of genetically inherited defects that occurs in 1 in 17,000 births and results in loss of pigmentation in the eyes, skin, and hair. All affected individuals exhibit vision problems and most are legally blind...
  61. The platinum zebrafish is a model for studying vision defects caused by albinism
    Ryan Thummel; Fiscal Year: 2009
    b>Albinism is group of genetically inherited defects that occurs in 1 in 17,000 births and results in loss of pigmentation in the eyes, skin, and hair. All affected individuals exhibit vision problems and most are legally blind...
  62. The platinum zebrafish is a model for studying vision defects caused by albinism
    Thomas S Vihtelic; Fiscal Year: 2010
    b>Albinism is group of genetically inherited defects that occurs in 1 in 17,000 births and results in loss of pigmentation in the eyes, skin, and hair. All affected individuals exhibit vision problems and most are legally blind...
  63. MELANOSOME PROTEIN SORTING, FOLDING & ANTIGEN PROCESSING
    Michael Marks; Fiscal Year: 2000
    ..sort tyrosinase or gp100 to the melanosome results in developmental and pigment defects such as oculocutaneous albinism. Melanosomal sorting may also affect immune responses to melanoma; tyrosinase and gp100 are among the few human ..
  64. STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2001
    ..The most severe of these are the oculocutaneous albinism (OCA) syndromes, characterized by greatly reduced pigmentation of the skin and eyes, major developmental defects ..
  65. STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2003
    ..The most severe of these are the oculocutaneous albinism (OCA) syndromes, characterized by greatly reduced pigmentation of the skin and eyes, major developmental defects ..
  66. Multispectral diagnostic imaging of the iris
    ANA LUKIC; Fiscal Year: 2006
    ..disorders: pigmentary dispersion syndrome and secondary glaucoma, Fuchs' heterochromic iridocyclitis, ocular albinism in infants, and iridociliary cysts...
  67. STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2004
    ..The most severe of these are the oculocutaneous albinism (OCA) syndromes, characterized by greatly reduced pigmentation of the skin and eyes, major developmental defects ..
  68. MELANOSOME PROTEIN SORTING, FOLDING & ANTIGEN PROCESSING
    Michael Marks; Fiscal Year: 2002
    ..sort tyrosinase or gp100 to the melanosome results in developmental and pigment defects such as oculocutaneous albinism. Melanosomal sorting may also affect immune responses to melanoma; tyrosinase and gp100 are among the few human ..
  69. MELANOSOME PROTEIN SORTING, FOLDING & ANTIGEN PROCESSING
    Michael Marks; Fiscal Year: 1999
    ..sort tyrosinase or gp100 to the melanosome results in developmental and pigment defects such as oculocutaneous albinism. Melanosomal sorting may also affect immune responses to melanoma; tyrosinase and gp100 are among the few human ..