Genomes and Genes
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.
Publications173 found, 100 shown here
- Molecular characterization of the mouse tyrosinase gene: pigment cell-specific expression in transgenic miceF 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...
- Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retinaRivka 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...
- Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutationR 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...
- A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinismL 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 ..
- Initiation codon mutation of the tyrosinase gene as a cause of human albinismL 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 ..
- A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritanceW Tietz
Am J Hum Genet 15:259-64. 1963
- Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Hum Mutat 13:99-115. 1999b>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 ..
- 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. 1998A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported...
- Fitness loss and germline mutations in barn swallows breeding in ChernobylH 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 ..
- 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...
- Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinismN 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...
- The molecular genetics of albinism and piebaldismY Tomita
Department of Dermatology, Akita University School of Medicine, Japan
Arch Dermatol 130:355-8. 1994Oculocutaneous 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...
- Genetic analysis of cavefish reveals molecular convergence in the evolution of albinismMeredith 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...
- Current understanding on the role of retinal pigment epithelium and its pigmentationU 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...
- Linking albinism and immunity: the secrets of secretory lysosomesJane 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 ..
- Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paperJulie 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...
- A health intervention programme for children with albinism at a special school in South AfricaPatricia M Lund
Biosciences, Coventry University, UK
Health Educ Res 17:365-72. 2002The 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...
- Health and education of children with albinism in ZimbabweP M Lund
School of Natural and Environmental Sciences, Coventry University, Priory Street, Coventry CV1 5FB, UK
Health Educ Res 16:1-7. 2001b>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...
- A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85S Shibahara
Department of Applied Physiology, Tohoku University School of Medicine, Sendai, Japan
Eur J Biochem 189:455-61. 1990Murine 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)...
- Basal cell carcinoma in five albino Africans from the south-eastern equatorial rain forest of NigeriaMaurice E Asuquo
Department of Surgery, University of Calabar Teaching Hospital, Calabar, Nigeria
Int J Dermatol 46:754-6. 2007Basal 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.
- Albinism and phenotype of barn swallows (Hirundo rustica) from ChernobylA 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...
- A form of albinism in cattle is caused by a tyrosinase frameshift mutationSheila 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...
- Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoterShoji Fukamachi
Department of Integrated Biosciences, University of Tokyo, Chiba, Japan
Genetics 178:761-9. 2008Patients 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...
- AlbinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Curr Opin Pediatr 11:565-71. 1999b>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...
- Syndromic albinism: a review of genetics and phenotypesNoah S Scheinfeld
Department of Dermatology, St Luke s Roosevelt Hospital Center, New York, USA
Dermatol Online J 9:5. 2003There are several syndromes of albinism associated with systemic pathology...
- The Tyr (albino) locus of the laboratory mouseFriedrich 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...
- Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinismS T Lee
Department of Medical Genetics, University of Wisconsin, Madison 53706
N Engl J Med 330:529-34. 1994Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13...
- Skin cancer in African albinosA 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...
- Human oculocutaneous albinism caused by single base insertion in the tyrosinase geneY Tomita
Department of Applied Physiology, Tohoku University School of Medicine, Miyagi, Japan
Biochem Biophys Res Commun 164:990-6. 1989Tyrosinase-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...
- Retinal abnormalities in human albinism translate into a reduction of grey matter in the occipital cortexElisabeth A H von dem Hagen
Department of Psychology Royal Holloway, University of London, Egham, Surrey TW20 0EX, UK
Eur J Neurosci 22:2475-80. 2005b>Albinism is a genetic condition associated with abnormalities of the visual system...
- Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.IY Shiloh
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel
Am J Hum Genet 47:20-7. 1990X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness...
- Short and long term axotomy-induced ERG changes in albino and pigmented ratsLuis 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)...
- Molecular basis of dark-eyed albinism in the mouseA 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...
- Horizontal cell density and mosaic regularity in pigmented and albino mouse retinaMary 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....
- 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 vivoMakoto 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...
- Light-induced alterations of retinal pigment epithelium in black, albino, and beige miceW G Robison
Exp Eye Res 22:549-57. 1976
- Isolation, chromosomal mapping, and expression of the mouse tyrosinase geneB 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...
- FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysisV 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...
- Retinal projections to the subcortical visual system in congenic albino and pigmented ratsM 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 ..
- Mutation analysis of the tyrosinase gene in oculocutaneous albinismO Camand
Centre Hospitalier Régional et Universitaire Ponchaillou, Rennes, France
Hum Mutat 17:352. 2001Type 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...
- [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. 2003There 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...
- Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory miceT Yokoyama
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030
Nucleic Acids Res 18:7293-8. 1990b>Albinism, due to a lack of melanin pigment, is one of the oldest known mutations in mice. Tyrosinase (monophenol oxygenase, EC 1.14.18...
- Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activityR 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...
- Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotideV 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...
- Molecular basis of mouse Himalayan mutationB 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...
- Early midline interactions are important in mouse optic chiasm formation but are not critical in man: a significant distinction between man and mouseMagella 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...
- Protein kinase C immunoreactivity in the pigmented and albino rat retinaGary E Baker
Department of Optometry and Visual Science, City University, Northampton Square, London EC1V 0HB, UK
Eur J Neurosci 22:2481-8. 2005....
- New animal models to study the role of tyrosinase in normal retinal developmentAlfonso 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...
- Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melaninAlfonso 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...
- Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic miceG 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...
- A Tyrosinase missense mutation causes albinism in the Wistar ratWanda 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...
- Color reversion of the albino medaka fish associated with spontaneous somatic excision of the Tol-1 transposable element from the tyrosinase geneMakiko 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...
- Antigens derived from melanocyte differentiation proteins: self-tolerance, autoimmunity, and use for cancer immunotherapyVictor 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...
- Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locusB 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...
- Pigmentation predicts the shift in the line of decussation in humans with albinismElisabeth A H von dem Hagen
Department of Psychology, Royal Holloway, University of London, UK
Eur J Neurosci 25:503-11. 2007In albinism a large proportion of nerve fibres originating in temporal retina cross the midline at the chiasm and project to the contralateral hemisphere...
- A critical review of the function of neuromelanin and an attempt to provide a unified theoryBruno 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...
- Melanocytes: the new BlackColin 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...
- Elevated free calcium levels in the subretinal space elevate the absolute dark-adapted threshold in hypopigmented miceC 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...
- [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...
- The tyrosinase gene of the i(b) albino mutant of the medaka fish carries a transposable element insertion in the promoter regionAtsuo 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...
- Spotting genes and internal pigmentation patterns in the mouseM S Deol
J Embryol Exp Morphol 26:123-33. 1971
- Three spontaneous mutations at the albino locus in SELH/Bc miceD 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...
- A multivariate analysis of repeated measures: linkage of the albinism gene (Tyr) to a QTL influencing ethanol-induced anesthesia in laboratory miceP 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...
- Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutationD 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...
- The mosaic structure of variation in the laboratory mouse genomeClaire 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...
- Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown lociA Schmidt-Küntzel
Basic Research Program, SAIC Frederick, NCI Frederick, Frederick, MD 21702, USA
J Hered 96:289-301. 2005....
- Organization of the visual cortex in human albinismMichael B Hoffmann
Department of Psychology, Royal Holloway, University of London, Egham, Surrey TW20 OEX, United Kingdom
J Neurosci 23:8921-30. 2003In albinism there is an abnormal projection of part of the temporal retina to the visual cortex contralateral to the eye...
- Variation in visual acuity within pigmented, and between pigmented and albino rat strainsGlen 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 ..
- Age-associated changes in the serotonergic system in rat superior colliculus and pretectumM 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...
- Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafishS 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...
- An albino-like decussation error in the optic chiasm revealed by anomalous ocular dominance columnsLawrence C Sincich
Beckman Vision Center, University of California San Francisco, San Francisco 94143 0730, USA
Vis Neurosci 19:541-5. 2002....
- Abnormal retinotopic representations in human visual cortex revealed by fMRIA 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 ..
- Trophic factors and neuronal interactions regulate the cell cycle and Pax6 expression in Müller stem cellsM Fernanda Insua
Instituto de Investigaciones Bioquimicas INIBIBB, CONICET and Universidad Nacional del Sur, Bahia Blanca, Argentina
J Neurosci Res 86:1459-71. 2008....
- Rod sensitivity of neonatal mouse and ratDong-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...
- Pigmented melanocytes are protected against ultraviolet-A-induced membrane damageEgil 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...
- GABA content in the retina of pigmented and albino ratsW M Blaszczyk
Allgemeine Zoologie and Neurobiologie, Ruhr Universitat Bochum, 44780 Bochum, Germany
Neuroreport 15:1141-4. 2004Reduction 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...
- Optokinetic deficits in albino ferrets (Mustela putorius furo): a behavioral and electrophysiological studyKlaus 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...
- Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patientsGael 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...
- [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. 2007b>Albinism is associated with a misrouting of fibers at the optic chiasm where the majority of fibers cross to the contralateral side...
- New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalographyHisao Ohde
Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
Vision Res 44:1033-8. 2004In 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...
- Age-related changes in the dynamics of human albino visual pathwaysMagella 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...
- [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. 2007A characteristic feature of patients with albinism is the misrouting of the optic nerves, which causes the visual cortex to receive an abnormal input...
- Oculocutaneous albinismKaren 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. 2007Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes...
- Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato 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...
- An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryR E Schnur
Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104 6072
Am J Hum Genet 45:706-20. 1989Ocular 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...
- Features of severe periodontal disease in a teenager with Chédiak-Higashi syndromeE 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.
- Deletion in the OA1 gene in a family with congenital X linked nystagmusM Preising
Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, University of Regensburg, 93042 Regensburg, Germany
Br J Ophthalmol 85:1098-103. 2001To 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.
- Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in JapanY 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...
- Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:1022-32. 2001Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity...
- Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 28:376-80. 2001Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies...
- Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studiesJia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
Chang Gung Med J 28:643-50. 2005..3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene deletion related to the phenotypes of patients with Xp-CGS...
- A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patientsSaunie M Hutton
Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
Invest Ophthalmol Vis Sci 49:868-72. 2008Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is associated with decreased visual acuity, nystagmus, strabismus, and photophobia, although pigmentation of skin and hair ..
- Subnormal visual acuity (SVAS) and albinism in Mexican 12-13-year-old childrenA Sjostrom
Paediatric Eye Unit, Institute of Clinical Neuroscience, Göteborg University Queen Silvia s Hospital for Children, S 416 85 Goteborg, Sweden
Doc Ophthalmol 108:9-15. 2004..In this group, defined as children with subnormal visual acuity syndromes (SVAS), albinism was shown to be a major cause to the visual dysfunction giving a prevalence of about 1%...
- Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P geneC Fridman
Department of Biology, University of Sao Paulo, Sao Paulo, Brazil
Am J Med Genet A 119:180-3. 2003....
- Eye movement abnormalities in hermansky-pudlak syndromeLibe Gradstein
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
J AAPOS 9:369-78. 2005Hermansky-Pudlak Syndrome (HPS) is a type of oculocutaneous albinism associated with a bleeding diathesis and pulmonary fibrosis...
- [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]R Aquaron
Laboratoire de Biochimie et de Biologie Moleculaire, Faculte de Medecine, Marseille, France
Med Trop (Mars) 65:584-91. 2005The dual purpose of this study was to determine the genotype of patients with oculocutaneous albinism type 1 and 2 based on analysis of tyrosinase and P gene mutations and to attempt to establish a correlation between phenotype and ..
- Albinism (OCA2) in AmerindiansCharles M Woolf
School of Life Sciences, Arizona State University, Tempe, Arizona 85287 4501, USA
Am J Phys Anthropol . 2005..Homozygosity for a mutation in the P locus mapped to the human chromosome 15q11.2-12 results in tyrosinase-positive albinism (OCA2)...
- Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical regionM V Schiaffino
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 4:373-82. 1995Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation...
- Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomographyGabriel T Chong
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA
Arch Ophthalmol 127:37-44. 2009To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain optical coherence tomography (OCT) in ocular imaging of children with nystagmus.
- The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pHM H Brilliant
Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724, USA
Pigment Cell Res 14:86-93. 2001..The human orthologue is the P protein. Humans lacking a functional P protein have oculocutaneous albinism type 2 (OCA2)...
- A clinical variant of familial Hermansky-Pudlak syndromeSilvia Iannello
Department of Internal Medicine, University of Catania Medical School, Garibaldi Hospital, Catania, Italy
MedGenMed 5:3. 2003..syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis)..
- Missing Mutations in Oculocutaneous and Ocular AlbinismRichard Spritz; Fiscal Year: 2006b>Albinism is a heterogeneous group of genetic disorders characterized by reduced or absent melanin pigmentation, mainly involving the eyes, skin, and hair...
- Hermansky Pudlak Syndrome & melanosome formationGRACA 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...
- Transgenic/Molecular Approaches for Ocular AlbinismDebora 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 ..
- Signal Transduction Mechanisms in Ocular AlbinismVinit Mahajan; Fiscal Year: 2005Signal 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, ..
- Role of BLOC-3 in Lysosome and Melanosome BiogenesisESTEBAN 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)...
- BIOGENESIS OF MELANOSOMESSeth 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 ..
- BIOGENESIS OF MELANOSOMESSeth 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 ..
- ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTESRaymond 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...
- Hermansky Pudlak Syndrome & melanosome formationMichael 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 ..
- CELLULAR PROTEIN MATURATION AND DEGRADATIONDaniel 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 ..
- A System for Study of Pediatric Visual PathwaysAnne Fulton; Fiscal Year: 2004..Investigations of the visual system in subjects with albinism and known genotypes are also planned in collaboration with Genetics...
- Spectroscopic Studies of Active Sites in Copper ProteinsEdward 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 ..
- Pathfinding of Ganglion Cell Axons and Ocular AlbinismDebora Farber; Fiscal Year: 2002DESCRIPTION: (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 (..
- GROWTH AND GUIDANCE OF RETINAL AXONSCarol 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...
- ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASELUANNE 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...
- MELANOSOME PROTEIN SORTING, FOLDING & ANTIGEN PROCESSINGMichael 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 ..