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    4042 results match your criteria Albinism

    1 OF 81

    Molecular characterization of a series of 990 index patients with albinism.
    Pigment Cell Melanoma Res 2018 Jan 18. Epub 2018 Jan 18.
    Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
    Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. In order to obtain a precise diagnosis we screened the 19 known albinism genes in 990 index patients using targeted next generation sequencing (NGS) and high resolution comparative genomic hybridization. Read More

    Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.
    Genetics 2018 Jan 16. Epub 2018 Jan 16.
    Institute of Hydrobiology, Chinese Academy of Sciences
    Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs). To date, ten HPS genes have been identified, three of which belong to the octamer complex BLOC-1 (biogenesis of lysosome-related organelles complex 1). One subunit of the BLOC-1 complex, BLOS1, also participates in the BLOC-1-related complex (BORC). Read More

    Children with albinism in African regions: their rights to 'being' and 'doing'.
    BMC Int Health Hum Rights 2018 Jan 12;18(1). Epub 2018 Jan 12.
    Institute of Clinical Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, England.
    Background: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. Read More

    Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
    Birth Defects Res 2018 Jan 8. Epub 2018 Jan 8.
    GMGF, Aix Marseille University, INSERM, UMR_S910, Marseille, France.
    Background: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight. Read More

    Proteome and Acetyl-Proteome Profiling of Camellia sinensis cv. 'Anjin Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways.
    Front Plant Sci 2017 11;8:2104. Epub 2017 Dec 11.
    Key Laboratory of Tea Biology and Resources Utilization, Ministry of Agriculture, National Center for Tea Improvement, Tea Research Institute of the Chinese Academy of Agricultural Sciences, Hangzhou, China.
    Tea leaf color is not only important from an aesthetics standpoint but is also related to tea quality. To investigate the molecular mechanisms that determine tea leaf color, we examined Camellia sinensis cv. 'Anjin Baicha' (an albino tea cultivar) by tandem mass tag isobaric labeling to generate a high-resolution proteome and acetyl-proteome atlas of three leaf developmental stages. Read More

    Lower lip squamous cell carcinoma in patients with photosensitive disorders: Analysis of cases treated at the Brazilian National Cancer Institute (INCA) from 1999 to 2012.
    Med Oral Patol Oral Cir Bucal 2018 Jan 1;23(1):e7-e12. Epub 2018 Jan 1.
    Av. das Acacias, 150, bl.01, ap. 104 Barra da Tijuca, RJ, Brazil 22776000,
    Background: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC.

    Material And Methods: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16). Read More

    Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.
    Ophthalmic Surg Lasers Imaging Retina 2017 Dec;48(12):1016-1020
    The authors report the first case, to their knowledge, of failed pneumatic retinopexy (PR) for rhegmatogenous retinal detachment (RRD) repair in a patient with ocular albinism (OA). The failure of PR to spontaneously resolve the subretinal fluid and reattach the retina in this case is suggestive of a deficiency in subretinal fluid reabsorption by the retinal pigment epithelium (RPE). These findings suggest that in cases of RRD in OA, primary PR should be avoided since this procedure relies on an adequately functioning RPE pump to reabsorb subretinal fluid prior to laser retinopexy. Read More

    The outcome of cochlear implantation among children with genetic syndromes.
    Eur Arch Otorhinolaryngol 2017 Dec 4. Epub 2017 Dec 4.
    King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University, PO Box 245, Riyadh, 11411, Saudi Arabia.
    Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.

    Method: Study design: case-control study.

    Setting: A cochlear implantation tertiary referral center. Read More

    Tissue-specific Gene Inactivation in Xenopus laevis: Knockout of lhx1 in the Kidney with CRISPR/Cas9.
    Genetics 2017 Nov 29. Epub 2017 Nov 29.
    University of Texas Health Science Center
    Studying genes involved in organogenesis is often difficult because many of these genes are also essential for early development. The allotetraploid frog, Xenopus laevis, is commonly used to study developmental processes, but because of the presence of two homeologs for many genes, it has been difficult to use as a genetic model. Few studies have successfully used CRISPR in amphibians, and currently there is no tissue-targeted knockout strategy described in Xenopus The goal of this study is to determine whether CRISPR/Cas9-mediated gene knockout can be targeted to the Xenopus kidney without perturbing essential early gene function. Read More

    Targeted Base Editing via RNA-Guided Cytidine Deaminases in Xenopus laevis Embryos.
    Mol Cells 2017 Nov 20;40(11):823-827. Epub 2017 Nov 20.
    Department of Biomedical Sciences, University of Ulsan College of Medicine, Seoul 05505, Korea.
    Genome editing using programmable nucleases such as CRISPR/Cas9 or Cpf1 has emerged as powerful tools for gene knock-out or knock-in in various organisms. While most genetic diseases are caused by point mutations, these genome-editing approaches are inefficient in inducing single-nucleotide substitutions. Recently, Cas9-linked cytidine deaminases, named base editors (BEs), have been shown to convert cytidine to uridine efficiently, leading to targeted single-base pair substitutions in human cells and organisms. Read More

    [Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].
    Zhonghua Er Ke Za Zhi 2017 Nov;55(11):824-829
    Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.
    Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed. The physiological function of 13 disease genes and the molecular signaling pathways were also comparatively studied. Read More

    Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
    Platelets 2017 Nov 1:1-4. Epub 2017 Nov 1.
    a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.
    Hermansky-Pudlak syndrome (HPS) - characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis-is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lamellar bodies, and cytotoxic T-cell lymphocyte granules). Immunodeficiency, pulmonary fibrosis and granulomatous colitis are associated with some, but not all subtypes of HPS, with varying degrees of clinical severity. We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. Read More

    Impact of healthcare strategies on patterns of paediatric sight impairment in a developed population: 1984-2011.
    Eye (Lond) 2017 Nov 27;31(11):1537-1545. Epub 2017 Oct 27.
    Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, UK.
    PurposeThe aim of our study was to analyse paediatric sight-impairment trends in Northern Ireland (NI) over a 28-year period to better understand the impact which changes in health-care provision may be having on childhood blindness and to enable us to assess our progress towards achieving the World Health Organisation (WHO) aims.MethodsA database of Certificates of Visual Impairment completed for NI children aged <16 years was used to determine the cause of sight impairment from 1984 to 2011. Causes were classified into preventable or treatable conditions and analysed for trends. Read More

    Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.
    Pigment Cell Melanoma Res 2017 Oct 20. Epub 2017 Oct 20.
    Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Read More

    Structure and Function of Human Tyrosinase and Tyrosinase-Related Proteins.
    Chemistry 2018 Jan 28;24(1):47-55. Epub 2017 Nov 28.
    Laboratory of Biophysical Chemistry, University of Groningen, Nijenborgh 7, 9747 AG, Groningen, The Netherlands.
    Melanin is the main pigment responsible for the color of human skin, hair and eye. Its biosynthesis requires three melanogenic enzymes, tyrosinase (TYR), and the tyrosinase-related proteins TYRP1 and TYRP2. The difficulty of isolating pure and homogeneous proteins from endogenous sources has hampered their study, and resulted in many contradictory findings regarding their physiological functions. Read More

    Mutational analysis of a Chinese family with oculocutaneous albinism type 2.
    Oncotarget 2017 Sep 31;8(41):70345-70355. Epub 2017 Jul 31.
    Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Read More

    Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
    Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.
    Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More

    Rare germline variants in known melanoma susceptibility genes in familial melanoma.
    Hum Mol Genet 2017 Dec;26(24):4886-4895
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA.
    Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers. The goal of this study was to systematically characterize rare germline variants in 42 established melanoma genes among 144 CMM patients in 76 American CMM families without known mutations using data from whole-exome sequencing. We identified 68 rare (<0. Read More

    New trends in childhood vision impairment in a developed country.
    J AAPOS 2017 Dec 13;21(6):496-498. Epub 2017 Oct 13.
    The Royal Victorian Eye and Ear Hospital, Melbourne; Department of Ophthalmology, The Royal Children's Hospital, Melbourne; Department of Paediatrics, University of Melbourne, Melbourne. Electronic address:
    Background: The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was to identify causes of vision impairment in students in Victoria using data from the EVAC.

    Methods: Data collected from students who attended the EVAC at the Royal Victorian Eye and Ear Hospital, Melbourne, between the years 2003 and 2012 inclusive, were analyzed retrospectively. Read More

    [Oculocutaneous and ocular albinism].
    Hautarzt 2017 Nov;68(11):867-875
    Stiftung Hochschulmedizin Dresden, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
    Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Read More

    Managing actinic keratosis in primary care.
    Practitioner 2016 10;260(1797):25-9
    Actinic, or solar, keratosis is caused by chronic ultraviolet-induced damage to the epidermis. In the UK, 15-23% of individuals have actinic keratosis lesions. Risk factors include: advanced age; male gender; cumulative sun exposure or phototherapy; Fitzpatrick skin phototypes I-II; long-term immuno-suppression and genetic syndromes e. Read More

    Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.
    Genet Sel Evol 2017 Oct 5;49(1):73. Epub 2017 Oct 5.
    Chair of Animal Genetics and Husbandry, LMU Munich, Veterinaerstr. 13, 80539, Munich, Germany.
    Background: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. Read More

    Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
    Pigment Cell Melanoma Res 2017 Oct 4. Epub 2017 Oct 4.
    Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.
    Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35. Read More

    Regulatory pathway analysis of coat color genes in Mongolian horses.
    Hereditas 2018 29;155:13. Epub 2017 Sep 29.
    College of Animal Science, Inner Mongolia Agricultural University, Huhhot, 010018 People's Republic of China.
    Background: Studies on the molecular genetics of horse skin pigmentation have typically focused on very few genes and proteins. In this study, we used Illumina sequencing to determine the global gene expression profiles in horses with white-colored coats and those with black-colored coats, with the goal of identifying novel genes that could regulate horse coat color.

    Results: Genes encoding ribosomal-associated proteins were highly expressed in horse skin. Read More

    OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
    PLoS One 2017 3;12(10):e0185944. Epub 2017 Oct 3.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
    We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Read More

    The consequences of deglycosylation of recombinant intra-melanosomal domain of human tyrosinase.
    Biol Chem 2017 Dec;399(1):73-77
    .
    Tyrosinase, a melanosomal glycoenzyme, catalyzes initial steps of the melanin biosynthesis. While glycosylation was previously studied in vivo, we present three recombinant mutant variants of human tyrosinase, which were obtained using multiple site-directed mutagenesis, expressed in insect larvae, purified and characterized biochemically. The mutagenesis demonstrated the reduced protein expression and enzymatic activity due to possible loss of protein stability and protein degradation. Read More


    Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
    Int J Trichology 2017 Apr-Jun;9(2):79-81
    Department of Dermatology, Venereology and Leprology, SHKM GMC, Nalhar, Haryana, India.
    An increase in length, curling, pigmentation, or thickness of eyelashes is termed eyelash trichomegaly. It may be inherited as an isolated trait or as a feature of a congenital syndrome such as Oliver-McFarlane syndrome or oculocutaneous albinism. Acquired conditions associated with eyelash trichomegaly include HIV infection, connective tissue disorders, and the administration of drugs such as cyclosporine and topical latanoprost. Read More

    Analogs of human genetic skin disease in domesticated animals.
    Int J Womens Dermatol 2017 Sep 3;3(3):170-175. Epub 2017 Mar 3.
    Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
    Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. Read More

    Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus.
    Invest Ophthalmol Vis Sci 2017 Aug;58(10):4162-4172
    Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Cognitive Neuroscience Department, Nijmegen, The Netherlands.
    Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18).

    Methods: Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials). Read More

    Assessment of molecular and epigenetic changes in the albinism of Agave angustifolia Haw.
    Plant Sci 2017 Oct 17;263:156-167. Epub 2017 Jul 17.
    Unidad de Biotecnología, Centro de Investigación Científica de Yucatán, Calle 43 No. 130 x 32 y 34. Col. Chuburná de Hidalgo, 97205 Mérida, Yucatán, Mexico. Electronic address:
    Albinism in plants is a rare phenomenon that occurs in nature and is characterized by the total or partial loss of photosynthetic pigments. Although progress has been made in understanding the nature of this phenomenon, the precise causes and biological basis are still unexplored. Here, we study the genetic and epigenetic differences between green (G), variegated (V) and albino (A) A. Read More

    OCT Angiographic Findings in Glucose-6-Phosphate Dehydrogenase Deficiency.
    Ophthalmic Surg Lasers Imaging Retina 2017 Aug;48(8):664-667
    Fovea plana (FP) describes the abnormal absence of the foveal pit in the retina. It is a sign that is associated with prematurity, albinism, and other ophthalmic disorders. The authors present the optical coherence tomography angiographic findings in a case of a 19-year-old male with FP and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Read More

    The integrated analysis of RNA-seq and microRNA-seq depicts miRNA-mRNA networks involved in Japanese flounder (Paralichthys olivaceus) albinism.
    PLoS One 2017 4;12(8):e0181761. Epub 2017 Aug 4.
    Key Laboratory for Sustainable Development of Marine Fisheries, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao, China.
    Albinism, a phenomenon characterized by pigmentation deficiency on the ocular side of Japanese flounder (Paralichthys olivaceus), has caused significant damage. Limited mRNA and microRNA (miRNA) information is available on fish pigmentation deficiency. In this study, a high-throughput sequencing strategy was employed to identify the mRNA and miRNAs involved in P. Read More

    Purification of Recombinant Human Tyrosinase from Insect Larvae Infected with the Baculovirus Vector.
    Curr Protoc Protein Sci 2017 Aug 1;89:6.15.1-6.15.12. Epub 2017 Aug 1.
    National Eye Institute, National Institutes of Health, Bethesda, Maryland.
    The purification of an enzyme from insect larvae infected with a baculovirus vector is described. The enzyme tyrosinase is of biomedical importance and catalyzes the first rate-limiting steps in melanin production. Tyrosinase mutations can result in oculocutaneous albinism type 1 (OCA1), an inherited eye disease associated with decreased melanin pigment production and vision defects. Read More

    Identification and characterization of the tyrosinase gene (TYR) and its transcript variants (TYR_1 and TYR_2) in the crab-eating macaque (Macaca fascicularis).
    Gene 2017 Sep 26;630:21-27. Epub 2017 Jul 26.
    National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Republic of Korea; Futuristic Animal Resource & Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Republic of Korea; Department of Functional Genomics, KRIBB School of Bioscience, Korea University of Science and Technology (UST), Daejeon 34113, Republic of Korea. Electronic address:
    Tyrosinase is a copper-containing enzyme that regulates melanin biosynthesis and is encoded by the tyrosinase (TYR) gene. Previous studies demonstrated that mutations in TYR could lead to oculocutaneous albinism type 1 (OCA1) owing to the failure of melanin formation. Although a previous study found that albinism in the rhesus monkey was derived from a mutation in TYR, the identification and characterization of this gene in non-human primates has not been achieved thus far. Read More

    A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.
    Ophthalmic Genet 2018 Jan-Feb;39(1):41-45. Epub 2017 Jul 25.
    e National Eye Institute , National Institutes of Health , Bethesda , Maryland , USA.
    Purpose: To develop a sensitive scale of iris transillumination suitable for clinical and research use, with the capability of either quantitative analysis or visual matching of images.

    Methods: Iris transillumination photographic images were used from 70 study subjects with ocular or oculocutaneous albinism. Subjects represented a broad range of ocular pigmentation. Read More

    Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype.
    G3 (Bethesda) 2017 Sep 7;7(9):3123-3131. Epub 2017 Sep 7.
    Department of Molecular and Cell Biology, University of California-Berkeley, California 94720
    Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus). In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. casper mutants display not only reduced pigmentation of melanosomes in melanophores, but also reductions in the iridescent silver color from iridophores, while the yellow pigmentation from xanthophores appears unaffected. Read More

    A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
    Anim Genet 2017 Oct 24;48(5):619-621. Epub 2017 Jul 24.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
    Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. Read More

    [Clinical and genetic aspects of albinism].
    Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.
    CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.
    Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. Read More

    Religion, culture, and discrimination against persons with disabilities in Nigeria.
    Afr J Disabil 2016 31;5(1):192. Epub 2016 Oct 31.
    Department of Educational Psychology, College of Education, Nigeria.
    Background: There is not a lot in the literature on disability in Nigeria concerning the role that religion, culture and beliefs play in sustaining discriminatory practices against persons with disabilities.

    Objectives: Many of these practices are exclusionary in nature and unfair. They are either embedded in or sustained by religion, culture and beliefs about disability and persons with disabilities. Read More

    Two skin cell lines from wild-type and albino Japanese flounder (Paralichthys olivaceus): establishment, characterization, virus susceptibility, efficient transfection, and application to albinism study.
    Fish Physiol Biochem 2017 Dec 11;43(6):1477-1486. Epub 2017 Jul 11.
    Key Laboratory for Sustainable Development of Marine Fisheries, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, 106 Nanjing Road, Qingdao, 266071, China.
    In order to provide an applicable cell platform to study fish pathology and skin pigmentation, two cell lines derived from skin tissues of wild-type and albino Japanese flounder were established and named JFSK_wt and JFSK_alb, respectively. These two cell lines were cultured for 45 passages within approximately 300 days. JFSK_wt and JFSK_alb cells were maintained in Dulbecco's Modified Eagle's Medium and Ham's F-12 Nutrient Mixture (DMEM/F12) supplemented with antibiotics, fetal bovine serum (FBS), 2-mercaptoethanol (2-Me), N-2-hydroxyethylpiperazine-N'-2-ethanesulfonic acid (HEPES), and basic fibroblast growth factor (bFGF). Read More

    Mimicking Melanosomes: Polydopamine Nanoparticles as Artificial Microparasols.
    ACS Cent Sci 2017 Jun 18;3(6):564-569. Epub 2017 May 18.
    Materials Science and Engineering Program, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92037, United States.
    A primary role of melanin in skin is the prevention of UV-induced nuclear DNA damage to human skin cells, where it serves to screen out harmful UV radiation. Melanin is delivered to keratinocytes in the skin after being excreted as melanosomes from melanocytes. Defects in melanin production in humans can cause diseases, many of which currently lack effective treatments due to their genetic origins (e. Read More

    EMB2738, which encodes a putative plastid-targeted GTP-binding protein, is essential for embryogenesis and chloroplast development in higher plants.
    Physiol Plant 2017 Nov 4;161(3):414-430. Epub 2017 Aug 4.
    College of Life and Environmental Sciences, Shanghai Normal University, Shanghai 200234, China.
    In higher plants, chloroplasts carry out many important functions, and normal chloroplast development is required for embryogenesis. Numerous chloroplast-targeted proteins involved in embryogenesis have been identified. Nevertheless, their functions remain unclear. Read More

    Disruption of a horizontally transferred phytoene desaturase abolishes carotenoid accumulation and diapause in Tetranychus urticae.
    Proc Natl Acad Sci U S A 2017 Jul 3;114(29):E5871-E5880. Epub 2017 Jul 3.
    Laboratory of Agrozoology, Department of Crop Protection, Faculty of Bioscience Engineering, Ghent University, B-9000 Ghent, Belgium;
    Carotenoids underlie many of the vibrant yellow, orange, and red colors in animals, and are involved in processes ranging from vision to protection from stresses. Most animals acquire carotenoids from their diets because de novo synthesis of carotenoids is primarily limited to plants and some bacteria and fungi. Recently, sequencing projects in aphids and adelgids, spider mites, and gall midges identified genes with homology to fungal sequences encoding de novo carotenoid biosynthetic proteins like phytoene desaturase. Read More

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