5,494 results match your criteria Albinism


Amelanotic melanoma in a patient with oculocutaneous albinism.

Dermatol Online J 2020 May 15;26(5). Epub 2020 May 15.

Department of Dermatology, Hospital Clinico Universitario de Valladolid, Valladolid.

Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin. These patients have a greater sensitivity to UV radiation and a predisposition to skin tumors, mainly squamous cell carcinoma and basal cell carcinomas, and to a lesser extent malignant melanomas. Melanoma can be one of the most challenging cancers to diagnose in patients with albinism. Read More

View Article

Download full-text PDF

Source

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines.

Stem Cell Res 2020 Jun 22;47:101883. Epub 2020 Jun 22.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA. Electronic address:

Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocyticlymphohistiocytosis,and progressive neurological problems. The pathophysiological mechanisms underlying this disease are unknown, so developing therapeutic options remains challenging. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2020.101883DOI Listing

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jul;37(7):725-730

Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To determine the spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism (OCA).

Methods: A total of 405 OCA patients were collected. High-throughput sequencing (The panel included TYR, OCA2, TYRP1 and SLC45A2 genes), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze the genetic variants and patterns of each subtype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.07.006DOI Listing

[Unusual anisocoria].

Ophthalmologe 2020 Jun 25. Epub 2020 Jun 25.

Universitäts-Augenklinik, Leitung der Sektion Kinderaugenheilkunde, Strabologie/Orthoptik, Neuroophthalmologie, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.

A 53-year-old female patient presented with increased light sensitivity 3 weeks after oral intake of moxifloxacin tablets for an upper respiratory tract infection. The symptoms were anisocoria and the pupils did not react to light or accommodation. The examination of the anterior segment of the eye revealed extensive bilateral iris transillumination defects (ITD). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00347-020-01153-yDOI Listing

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Genet Med 2020 Jun 22. Epub 2020 Jun 22.

Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.

Purpose: Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0867-5DOI Listing

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Turk J Pediatr 2020 ;62(3):474-478

Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.

Background: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.

Case: Here we report two Turkish patients with Vici syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2020.03.015DOI Listing
January 2020

Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene.

Pigment Cell Melanoma Res 2020 Jun 18. Epub 2020 Jun 18.

Univ Lyon, VetAgro Sup, Marcy l'Etoile, France.

In the feline Donskoy breed, a phenotype that breeders call "pink-eye," with associated light-brown skin, yellow irises and red-eye effect, has been described. Genealogical data indicated an autosomal recessive inheritance pattern. A single candidate region was identified by genome-wide association study and SNP-based homozygosity mapping. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12906DOI Listing

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Curr Eye Res 2020 Jun 18:1-4. Epub 2020 Jun 18.

Graduate School of Peking Union Medical College , Beijing, China.

Purpose: To identify the mutational spectrum of 63 northwest Chinese probands with Oculocutaneous albinism (OCA), and identify correlations between phenotype and genotype.

Methods: We recruited 63 clinically diagnosed with OCA patients in Gansu Provincial Maternal and Child Health Care Hospital. Mutation screening analysis was performed by direct sequencing and NGS-target sequencing to screen the variants on genes related to OCA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/02713683.2020.1781192DOI Listing

Weaving the Strands of Life (): History of Genetic Research Involving Navajo People.

Hum Biol 2020 Jul;91(3):189-208

Division of Biomedical Informatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA,

To date, some genetic studies offer medical benefits but lack a clear pathway to benefit for people from underrepresented backgrounds. Historically, Indigenous people, including the Diné (Navajo people), have raised concerns about the lack of benefits, misuse of DNA samples, lack of consultation, and ignoring of cultural and traditional ways of knowing. Shortly after the Navajo Nation Human Research Review Board was established in 1996, the Navajo Nation recognized growing concerns about genetic research, and in 2002 they established a moratorium on human genetic research studies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.13110/humanbiology.91.3.04DOI Listing

Data on First Record of Brown Morph Banded Langur (), Leucistic Dusky Leaf Monkey () in Malaysia and Review of Morph Diversity in Langur (Colobinae).

Data Brief 2020 Aug 21;31:105727. Epub 2020 May 21.

Centre of Research for Sustainable Uses of Natural Resources, Faculty of Applied Sciences and Technology, Universiti Tun Hussein Onn Malaysia (Pagoh campus), KM 1, Jalan Panchor, 84600 Muar, Johor, Malaysia.

Morphism refer to polymorphic species, in which multiple colour variants coexist within a population. Morphism in primates is common and langurs also exhibit certain characteristics of morphism, such as conspicuous natal coats. Banded langurs () and dusky leaf monkey () exhibits the same characteristics of conspicuous natal coats, but these coats are only limited to infants and changed when they reached adulthood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dib.2020.105727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284059PMC

Albinism in plants: far beyond the loss of chlorophyll. Structural and physiological aspects of wild-type and albino royal poinciana (Delonix regia) seedlings.

Plant Biol (Stuttg) 2020 Jun 16. Epub 2020 Jun 16.

Instituto de Ciências Biológicas, Universidade Federal de Jataí, 75801-615, Jataí, Goiás, Brazil.

• The partial or complete loss of chlorophylls, or albinism, is a rare phenomenon in plants. In the present study, we first report the occurrence of albino Delonix regia seedlings and describe the morpho-physiological changes associated with albinism. • Wild-type and albino seedlings were characterized. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/plb.13146DOI Listing

Bilateral atypical lamellar holes in a patient with oculocutaneous albinism.

Ophthalmic Genet 2020 Jun 16:1-3. Epub 2020 Jun 16.

Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.

Background: Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.

Materials And Methods: Case report. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2020.1765397DOI Listing

The relationship between retinal cone density and cortical magnification in human albinism.

J Vis 2020 Jun;20(6):10

,.

The human fovea lies at the center of the retina and supports high-acuity vision. In normal visual system development, the highest acuity is correlated with both a high density of cone photoreceptors in the fovea and a magnified retinotopic representation of the fovea in the visual cortex. Both cone density and the cortical area dedicated to each degree of visual space-the latter describing cortical magnification (CM)-steadily decrease with increasing eccentricity from the fovea. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/jov.20.6.10DOI Listing

Patterns of skin cancer and treatment outcomes for patients with albinism at Kisangani Clinic, Democratic Republic of Congo.

Int J Dermatol 2020 Jun 12. Epub 2020 Jun 12.

Department of Dermatology, University of Pennsylvania, Philadelphia, PA, USA.

Background: People with albinism (PWA) are at increased risk of photodamage and skin cancer. In many parts of Africa, there is a significant lack of knowledge regarding albinism which can lead to societal stigma, discrimination, and persecution from an early age. In the Democratic Republic of Congo (DRC), there is limited clinical data on PWA and skin cancer. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14988DOI Listing
June 2020
1.227 Impact Factor

Genetic Instability of a Polydactyl Hypopigmented Cat With Squamous Cell Carcinoma-A Case Report.

Front Vet Sci 2020 12;7:258. Epub 2020 May 12.

Programa Internacional de Medicina, Universidad Autónoma de Guadalajara, Zapopan, Mexico.

Polydactyly, hypopigmentation, and squamous cell carcinoma are common in cats. However, a cat exhibiting all of these conditions has not yet been reported. This study presents the case of a 14- year-old male Mexican cat, hypopigmented, with supernumerary fingers, two preaxial and one on each posterior limb, admitted to the clinic with a lesion in the left periocular region. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fvets.2020.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247834PMC

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in .

Genes (Basel) 2020 Jun 9;11(6). Epub 2020 Jun 9.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

Brown or chocolate coat color in many mammalian species is frequently due to variants at the B locus or gene. In dogs, five different loss-of-function alleles have been described, which explain the vast majority of dogs with brown coat color. Recently, breeders and genetic testing laboratories identified brown French Bulldogs that did not carry any of the known mutant alleles. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes11060636DOI Listing

Determining the Topic Evolution and Sentiment Polarity for Albinism in a Chinese Online Health Community: Machine Learning and Social Network Analysis.

JMIR Med Inform 2020 May 29;8(5):e17813. Epub 2020 May 29.

School of Medicine and Health Management, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.

Background: There are more than 6000 rare diseases in existence today, with the number of patients with these conditions rapidly increasing. Most research to date has focused on the diagnosis, treatment, and development of orphan drugs, while few studies have examined the topics and emotions expressed by patients living with rare diseases on social media platforms, especially in online health communities (OHCs).

Objective: This study aimed to determine the topic categorizations and sentiment polarity for albinism in a Chinese OHC, Baidu Tieba, using multiple methods. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2196/17813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293058PMC

Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.

Pediatr Blood Cancer 2020 Aug 27;67(8):e28312. Epub 2020 May 27.

Division of Clinical Neuroscience, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.28312DOI Listing

Genetic variants associated with Hermansky-Pudlak syndrome.

Platelets 2020 May 5;31(4):544-547. Epub 2019 Sep 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Bethesda, MD, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency, oculocutaneous albinism, inflammatory bowel disease, neutropenia, and pulmonary fibrosis. Ten genes associated with HPS are identified to date, and each gene encodes a protein subunit of either Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, BLOC-2, BLOC-3, or the Adaptor Protein-3 complex. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09537104.2019.1663810DOI Listing

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Front Genet 2020 28;11:397. Epub 2020 Apr 28.

Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil.

Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2020.00397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198815PMC

Transcriptomic analysis reveals mechanism of light-sensitive albinism in tea plant Camellia sinensis 'Huangjinju'.

BMC Plant Biol 2020 May 14;20(1):216. Epub 2020 May 14.

College of Horticulture and Forestry Science, Huazhong Agricultural University, 1 Shizishan Street, Hongshan District, Wuhan, 430070, Hubei, China.

Background: Camellia sinensis 'Huangjinju' is an albino tea variety developed recently in China. Young leaves of 'Huangjinju' demonstrate bright yellow when cultivated under natural sunlight, but regreens under reduced light intensity. To elucidate the physiological and molecular mechanisms of this light-sensitive albinism, we compared leaf pigmentation, metabolites, cellular ultrastructure and transcriptome between plants cultured under natural sunlight and shade. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12870-020-02425-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227349PMC

The Genetic Basis of Morphological Diversity in Domesticated Goldfish.

Curr Biol 2020 Jun 8;30(12):2260-2274.e6. Epub 2020 May 8.

Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka 565-0871, Japan.

Although domesticated goldfish strains exhibit highly diversified phenotypes in morphology, the genetic basis underlying these phenotypes is poorly understood. Here, based on analysis of transposable elements in the allotetraploid goldfish genome, we found that its two subgenomes have evolved asymmetrically since a whole-genome duplication event in the ancestor of goldfish and common carp. We conducted whole-genome sequencing of 27 domesticated goldfish strains and wild goldfish. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cub.2020.04.034DOI Listing

Domestication of aromatic medicinal plants in Mexico: Agastache (Lamiaceae)-an ethnobotanical, morpho-physiological, and phytochemical analysis.

J Ethnobiol Ethnomed 2020 May 1;16(1):22. Epub 2020 May 1.

Posgrado en Botánica, Colegio de Posgraduados, Campus Montecillo, Texcoco, Estado de México, México.

Background: Most reports of domesticated plants that involve a domestication gradient or inter-specific hybridization in Mexico have focused on those used as food. This study provides knowledge about these processes in two aromatic medicinal plants, Agastache mexicana (Lamiaceae) and A. m. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13002-020-00368-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193375PMC

A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Authors:
Samson O Oyibo

Cureus 2020 Apr 24;12(4):e7817. Epub 2020 Apr 24.

Internal Medicine, Peterborough City Hospital, Peterborough, GBR.

Oculocutaneous albinism (OCA) is a rare autosomal recessive congenital condition characterized by reduced or absent production of the pigment melanin by melanocytes. The affected individuals have increased susceptibility to sunburn and skin cancers. Osteoporosis is a disease entity characterized by the progressive loss of bone mineral density and the deterioration of bone micro-architecture, leading to an increased risk of developing low-trauma fractures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186092PMC

Altered visual population receptive fields in human albinism.

Cortex 2020 Jul 6;128:107-123. Epub 2020 Apr 6.

Institute of Child Health, University College London, London, UK.

Albinism is a congenital disorder where misrouting of the optic nerves at the chiasm gives rise to abnormal visual field representations in occipital cortex. In typical human development, the left occipital cortex receives retinal input predominantly from the right visual field, and vice-versa. In albinism, there is a more complete decussation of optic nerve fibers at the chiasm, resulting in partial representation of the temporal hemiretina (ipsilateral visual field) in the contralateral hemisphere. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cortex.2020.03.016DOI Listing

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochim Biophys Acta Biomembr 2020 Apr 22:183318. Epub 2020 Apr 22.

Department of Collaborative Research for Bio-Molecular Dynamics, Nara Medical University, 840 Shijo-cho, Kashihara, Nara 634-8521, Japan. Electronic address:

Melanosomes are unique organelles in melanocytes that produce melanin, the pigment for skin, hair, and eye color. Tyrosinase is the essential and rate-limiting enzyme for melanin production, that strictly requires neutral pH for activity. pH maintenance is a result of the combinational function of multiple ion transport proteins. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamem.2020.183318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175901PMC

Online Survey of Digital Reading by Adults with Low Vision.

Optom Vis Sci 2020 Apr;97(4):249-256

Department of Psychology, University of Minnesota, Minneapolis, Minnesota.

Significance: Access to digital text is increasingly widespread, but its impact on low-vision reading is not well understood.

Purpose: We conducted an online survey of people with low vision to determine what assistive technologies they use for visual reading, their preferred text characteristics, and the time they devote to reading digital and hard-copy text.

Methods: One hundred thirty-three low-vision participants completed an online survey. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/OPX.0000000000001503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7172011PMC

Albinism and a mitochondrial DNA deletion.

Ophthalmic Genet 2020 Jun 15;41(3):295-298. Epub 2020 Apr 15.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, The University of Auckland , Auckland, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2020.1750038DOI Listing

Hermansky-Pudlak Syndrome.

Semin Respir Crit Care Med 2020 Apr 12;41(2):238-246. Epub 2020 Apr 12.

Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0040-1708088DOI Listing

Simple embryo injection of long single-stranded donor templates with the CRISPR/Cas9 system leads to homology-directed repair in Xenopus tropicalis and Xenopus laevis.

Genesis 2020 Jun 11;58(6):e23366. Epub 2020 Apr 11.

School of Natural Sciences, University of Central Missouri, Warrensburg, Missouri.

We report model experiments in which simple microinjection of fertilized eggs has been used to effectively perform homology-directed repair (HDR)-mediated gene editing in the two Xenopus species used most frequently for research: X. tropicalis and X. laevis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvg.23366DOI Listing

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Pigment Cell Melanoma Res 2020 Jul 27;33(4):556-565. Epub 2020 Apr 27.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K -dependent Na /Ca exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in oculocutaneous albinism (OCA) type 6 in humans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269830PMC
July 2020
4.619 Impact Factor

Abnormal insertional pattern of the inferior oblique in four cases of oculocutaneous albinism and abnormal anterior insertions of horizontal rectus muscles in albinism.

J AAPOS 2020 Apr 4. Epub 2020 Apr 4.

Pediatric Ophthalmology & Ocular Genetics, C-MER (Shenzhen) Dennis Lam Eye Hospital, Shenzhen, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2020.01.011DOI Listing

Nonhuman Primate Model of Oculocutaneous Albinism with and Mutations.

Research (Wash D C) 2020 11;2020:1658678. Epub 2020 Mar 11.

Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell & Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China.

Human visual acuity is anatomically determined by the retinal fovea. The ontogenetic development of the fovea can be seriously hindered by oculocutaneous albinism (OCA), which is characterized by a disorder of melanin synthesis. Although people of all ethnic backgrounds can be affected, no efficient treatments for OCA have been developed thus far, due partly to the lack of effective animal models. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.34133/2020/1658678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086374PMC

Histopathologic patterns of cutaneous malignancies in individuals with oculocutaneous albinism in Anambra state, Nigeria: a paradigm swing?

Ecancermedicalscience 2020 20;14:1013. Epub 2020 Feb 20.

Department of Medicine, University College Hospital, Ibadan, Oyo State, Nigeria.

Background: A high proportion of skin cancers in Nigeria occur in Individuals with oculocutaneous albinism (OCA). A reduction or absence of melanin, a skin pigment with photoprotective properties, makes them susceptible to skin malignancies such as squamous cell carcinomas (SCCs), basal cell carcinomas (BCCs) and rarely melanomas. Globally, BCCs are the commonest cutaneous malignancies among Caucasians and in fair-skinned Africans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3332/ecancer.2020.1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105334PMC
February 2020

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Platelets 2020 Apr 3:1-4. Epub 2020 Apr 3.

Service Génétique Médicale, CHU Bordeaux, Bordeaux, France.

Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome-related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of . Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09537104.2020.1742315DOI Listing

First record of albinism in the lanternshark family, Etmopteridae.

Authors:
Brittany Finucci

J Fish Biol 2020 Jun 13;96(6):1512-1515. Epub 2020 Apr 13.

National Institute of Water and Atmospheric Research, Wellington, New Zealand.

A single albino specimen of the lanternshark, Lucifer's dogfish (Etmopterus lucifer), is reported here. The specimen was found among museum collections, having been captured near Cape Palliser, off the North Island of New Zealand in 1984. Morphometrics are reported, and with no retainment of pigmentation, the specimen is considered a complete albino. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jfb.14329DOI Listing

Investigating the composition and distribution of microplastics surface biofilms in coral areas.

Chemosphere 2020 Aug 19;252:126565. Epub 2020 Mar 19.

School of Chemistry and Environment, Guangdong Ocean University, Zhanjiang, 524088, China; Shenzhen Institute of Guangdong Ocean University, Shenzhen, 518108, China; Southern Marine Science and Engineering Guangdong Laboratory, Zhanjiang, 524088, China. Electronic address:

In recent years, global climate change and pollution of the marine environment have caused large-scale coral deaths and severe damages to coral reef ecosystems. Numerous studies have shown that coral diseases are closely related to microorganisms. And microplastics (MPs) are a potential threat to corals. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.chemosphere.2020.126565DOI Listing

[Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):441-444

Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai 201102, China.

Objective: To detect pathological variant in two patients with Chediak-Higashi syndrome (CHS) from a consanguineous family and to explore its genotype-phenotype correlation.

Methods: Clinical data was collected for this pedigree. Genomic DNA was prepared from probands' peripheral leukocytes and their relatives' fingernail. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.019DOI Listing

Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography.

Invest Ophthalmol Vis Sci 2020 03;61(3):36

,.

Purpose: To test whether ganglion cell layer (GCL) and inner plexiform layer (IPL) topography is altered in albinism.

Methods: Optical coherence tomography scans were analyzed in 30 participants with albinism and 25 control participants. Horizontal and vertical line scans were acquired at the fovea, then strip registered and averaged. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.61.3.36DOI Listing

Measurement of Diurnal Variation in Rod Outer Segment Length In Vivo in Mice With the OCT Optoretinogram.

Invest Ophthalmol Vis Sci 2020 03;61(3)

.

Purpose: To investigate diurnal variation in the length of mouse rod outer segments in vivo.

Methods: The lengths of rod inner and outer segments (RIS, ROS) of dark-adapted albino mice maintained on a 12-hour dark:12-hour light cycle with light onset 7 AM were measured at prescribed times (6:30 AM, 11 AM, 3:30 PM) during the diurnal cycle with optical coherence tomography (OCT), taking advantage of increased visibility, after a brief bleaching exposure, of the bands corresponding to RIS/ROS boundaries and ROS tips (ROST).

Results: Deconvolution of OCT depth profiles resolved two backscatter bands located 7. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.61.3.9DOI Listing

Variable clinical profile of foveal hypoplasia in albinism.

Indian J Ophthalmol 2020 04;68(4):649-651

Department of Vitreo.Retina, Disha Eye Hospital, Kolkata, West Bengal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_905_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210865PMC

Generation of albino via SLC45a2 gene targeting by CRISPR/Cas9 in the marine medaka Oryzias melastigma.

Mar Pollut Bull 2020 May 12;154:111038. Epub 2020 Mar 12.

Department of Biological Science, College of Science, Sungkyunkwan University, Suwon 16419, South Korea. Electronic address:

To produce albinism in the marine medaka Oryzias melastigma, we disrupted the solute carrier family 45 (SLC45a2) gene by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 with a single guide RNA (sgRNA). Selected sgRNAs were able to target a SLC45a2 gene as confirmed by genotyping and heteroduplex mobility assay (HMA). Of the survived embryos after injection, 54. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.marpolbul.2020.111038DOI Listing
May 2020
2.991 Impact Factor

Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.

Sci Rep 2020 Mar 4;10(1):3972. Epub 2020 Mar 4.

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys) to shed light on retinal neurodevelopment defects in HPS-7. We analyzed the expression of a focused set of miRNAs in retina of wild type (WT), Dys and Dys mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-020-60931-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055265PMC

[Clinical practice guidelines for albinism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):252-257

Department of Birth Defect Genetics, Beijing Institute of Pediatrics; Center for Genetics and Birth Defect Prevention and Control, National Children's Medical Center; Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.

Albinism is an autosomal or X-linked recessive Mendelian trait in man, which mainly manifests as hypopigmentation and related lesions of eye, skin and hair. At least 18 genes have so far been identified as causative genes for albinism. The mutational spectrum is population-specific. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.005DOI Listing

Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.

Ann Hum Genet 2020 May 2;84(3):303-312. Epub 2020 Mar 2.

Department of Genetics, University of Calcutta, Kolkata, India.

Oculocutaneous albinism (OCA) is a group of congenital autosomal recessive disorders with seven known subtypes (OCA1-OCA7) characterized by loss or absence of pigmentation in the skin, hair, and eyes. OCA1, caused by pathogenic variations in the tyrosinase (TYR) gene, has been documented to be the most prevalent subtype across the world including India. In the present study, we recruited 53 OCA-affected individuals from 45 unrelated families belonging to 20 different marriage groups/ethnicities of 15 different districts of West Bengal. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ahg.12376DOI Listing
May 2020
2.211 Impact Factor

Targeted mutagenesis using CRISPR-Cas9 in the chelicerate herbivore Tetranychus urticae.

Insect Biochem Mol Biol 2020 May 27;120:103347. Epub 2020 Feb 27.

Laboratory of Agrozoology, Department of Plants and Crops, Faculty of Bioscience Engineering, Ghent University, Coupure Links 653, 9000, Ghent, Belgium. Electronic address:

The use of CRISPR-Cas9 has revolutionized functional genetic work in many organisms, including more and more insect species. However, successful gene editing or genetic transformation has not yet been reported for chelicerates, the second largest group of terrestrial animals. Within this group, some mite and tick species are economically very important for agriculture and human health, and the availability of a gene-editing tool would be a significant advancement for the field. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ibmb.2020.103347DOI Listing
May 2020
3.450 Impact Factor

CRISPR/Cas9 engineering of albino cystinuria Type A mice.

Genesis 2020 May 20;58(5):e23357. Epub 2020 Feb 20.

Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, Tennessee.

Cystinuria Type A is a relatively common genetic kidney disease occurring in 1 in 7,000 people worldwide that results from mutation of the cystine transporter rBAT encoded by Slc3a1. We used CRISPR/Cas9 technology to engineer cystinuria Type A mice via genome editing of the C57BL/6NHsd background. These mice are an improvement on currently available models as they are on a coisogenic genetic background and have a single defined mutation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvg.23357DOI Listing

Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.

Acta Ophthalmol 2020 Feb 17. Epub 2020 Feb 17.

Department of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Purpose: The aim of this study was to provide a population-based estimate on the prevalence of infantile nystagmus and to describe the causes in the Capital Region of Denmark.

Methods: Review of medical records of children with infantile nystagmus born in the period 1 January 2010 through 31 December 2017 and living in the Capital Region of Denmark. We used birth registry data from Statistics Denmark and the National Danish Birth Registry to calculate the prevalence of nystagmus in children born at term and prematurely. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.14354DOI Listing
February 2020