5,845 results match your criteria Albinism

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes (Basel) 2022 Jun 16;13(6). Epub 2022 Jun 16.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 75471, Aljouf, Saudi Arabia.

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. Read More

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Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.

Respir Res 2022 Jun 23;23(1):167. Epub 2022 Jun 23.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by improper biogenesis of lysosome-related organelles (LROs). Lung fibrosis is the leading cause of death among adults with HPS-1 and HPS-4 genetic types, which are associated with defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3), a guanine exchange factor (GEF) for a small GTPase, Rab32. LROs are not ubiquitously present in all cell types, and specific cells utilize LROs to accomplish dedicated functions. Read More

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The retinal pigmentation pathway in human albinism: Not so black and white.

Prog Retin Eye Res 2022 Jun 18:101091. Epub 2022 Jun 18.

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Emma Center for Personalized Medicine (ECPM), Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands. Electronic address:

Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. Read More

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[Heterochromia iridum in a case of partial type 2 oculocutaneous albinism: Case report].

J Fr Ophtalmol 2022 Jun 16. Epub 2022 Jun 16.

Ophthalmology department « A » 44444, Ibn Sina university hospital (hôpital des spécialités), Mohammed V university, résidence les sables, immeuble 4 num 14, Wifak, Témara Rabat, Maroc.

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Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

Invest Ophthalmol Vis Sci 2022 Jun;63(6):15

UCL Institute of Ophthalmology, University College London, London, United Kingdom.

Purpose: We investigated axial length (AL) distributions in inherited retinal diseases (IRDs), comparing them with reference cohorts.

Methods: AL measurements from IRD natural history study participants were included and compared with reference cohorts (TwinsUK, Raine Study Gen2-20, and published studies). Comparing with the Raine Study cohort, formal odds ratios (ORs) for AL ≥ 26 mm or AL ≤ 22 mm were derived for each IRD (Firth's logistic regression model, adjusted for age and sex). Read More

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CRISPR-AsCas12a Efficiently Corrects a Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient.

CRISPR J 2022 06;5(3):457-471

Department of Ophthalmology, UCLA School of Medicine, Jules Stein Eye Institute, Los Angeles, California, USA.

Mutations in the gene cause X-linked ocular albinism type 1 (OA1), a disease that severely impairs vision. We recently generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of an OA1 patient carrying a point mutation in intron 7 of . This mutation activates a new splice site causing the incorporation of a pseudoexon. Read More

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Taxonomy, comparative genomics and evolutionary insights of Penicillium ucsense: a novel species in series Oxalica.

Antonie Van Leeuwenhoek 2022 Jun 9. Epub 2022 Jun 9.

Laboratory of Enzymes and Biomass, Institute of Biotechnology, University of Caxias Do Sul, Francisco Getúlio Vargas Street 1130, Caxias do Sul, RS, 95070-560, Brazil.

The genomes of two Penicillium strains were sequenced and studied in this study: strain 2HH was isolated from the digestive tract of Anobium punctatum beetle larva in 1979 and the cellulase hypersecretory strain S1M29, derived from strain 2HH by a long-term mutagenesis process. With these data, the strains were reclassified and insight is obtained on molecular features related to cellulase hyperproduction and the albino phenotype of the mutant. Both strains were previously identified as Penicillium echinulatum and this investigation indicated that these should be reclassified. Read More

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Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Clin Ophthalmol 2022 24;16:1569-1587. Epub 2022 May 24.

Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.

Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities. The main ocular features common to both oculocutaneous albinism (OCA), and ocular albinism (OA) include reduced visual acuity, refractive errors, foveal hypoplasia, congenital nystagmus, iris and fundus hypopigmentation and visual pathway misrouting, but clinical signs vary and there is phenotypic overlap with other pathologies. This study reviews the prevalence, genetics and ocular manifestations of OCA and OA, including abnormal development of the optic chiasm. Read More

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Abnormal Retinal Vessel Architecture in Albinism and Idiopathic Infantile Nystagmus.

Invest Ophthalmol Vis Sci 2022 05;63(5):33

Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University Of Leicester, University Road, Leicester, LE1 7RH, United Kingdom.

Purpose: Infantile nystagmus syndrome (INS) causes altered visual development and can be associated with abnormal retinal structure, to which vascular development of the retina is closely related. Abnormal retinal vasculature has previously been noted in albinism but not idiopathic infantile nystagmus. We compared the number and diameter of retinal vessels in participants with albinism (PWA) and idiopathic infantile nystagmus (PWIIN) with controls. Read More

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Refractive development in individuals with ocular and oculocutaneous albinism.

Int Ophthalmol 2022 May 19. Epub 2022 May 19.

Myopia Research Lab, Prof. Brien Holden Eye Research Centre, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, Telangana, 500034, India.

Purpose: Albinism is known to disrupt emmetropisation in animal models. However, it is not clear if the same effect is seen in humans. This study aimed to investigate the refractive profile in individuals diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA) based on a large dataset. Read More

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Mechanisms behind the varying severity of Aleutian mink disease virus: Comparison of three farms with a different disease status.

Vet Microbiol 2022 Jul 12;270:109452. Epub 2022 May 12.

Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Agnes Sjöbergin katu 2, 00790, Helsinki, Finland; Department of Virology, Faculty of Medicine, University of Helsinki, Haartmaninkatu 3, 00290 Helsinki, Finland.

Aleutian mink disease virus (AMDV) is distributed widely among mink farms and wild mustelids despite ongoing attempts to stop the spread. The severity of Aleutian disease (AD) varies from subclinical to fatal but the reasons for its varying severity are complex and unclear. Recently, breeding of tolerant mink has drawn attention as the possible solution to reduce the effects of AD in farms. Read More

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Loss of 'Epidermal Melanin Unit' Integrity in Human Skin During Melanoma-Genesis.

Front Oncol 2022 27;12:878336. Epub 2022 Apr 27.

The Charles Institute of Dermatology, School of Medicine, University College Dublin, Dublin, Ireland.

Cutaneous melanoma can be a most challenging neoplasm of high lethality, in part due to its extreme heterogeneity and characteristic aggressive and invasive nature. Indeed, its moniker 'the great masquerader' reflects that not all melanomas are created equal in terms of their originating cellular contexts, but also that melanoma cells in the malignant tumor can adopt a wide range of different cell states and variable organotropism. In this review, we focus on the early phases of melanomagenesis by discussing how the originating pigment cell of the melanocyte lineage can be influenced to embark on a wide range of tumor fates with distinctive microanatomical pathways. Read More

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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.

Respir Res 2022 May 4;23(1):112. Epub 2022 May 4.

Human Biochemical Genetics Section, National Human Genome Research Institute (NHGRI), National Institute of Health (NIH), Bethesda, MD, 20892, USA.

Background: HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1 (pale ear) is a naturally occurring HPS-1 mouse model that exhibits high sensitivity to bleomycin-induced pulmonary fibrosis (PF). Traditional methods of administering bleomycin as an intratracheal (IT) route to induce PF in this model often lead to severe acute lung injury and high mortality rates, complicating studies focusing on pathobiological mechanisms or exploration of therapeutic options for HPSPF. Read More

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Tyrosinase suppresses vasculogenic mimicry in human melanoma cells.

Oncol Lett 2022 May 6;23(5):169. Epub 2022 Apr 6.

Department of Applied Chemistry, Faculty of Science and Technology, Keio University, Yokohama, Kanagawa 223-8522, Japan.

Melanoma is a type of skin cancer that derives from melanocytes; this tumor is highly metastatic and causes poor clinical outcomes in patients. Vasculogenic mimicry (VM), a vascular-like network that is formed by tumor cells instead of endothelial cells, promotes the growth and metastasis of tumors by providing tumors with oxygen- and nutrient-containing blood. VM correlates with a poor prognosis in patients with melanoma, but the melanoma-specific mechanisms of VM are unknown. Read More

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The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.

Front Mol Biosci 2022 12;9:873777. Epub 2022 Apr 12.

Department of Pharmaceutical and Medicinal Chemistry, Pharmaceutical Institute, University of Bonn, Bonn, Germany.

GPCRs transform extracellular stimuli into a physiological response by activating an intracellular signaling cascade initiated via binding to G proteins. Orphan G protein-coupled receptors (GPCRs) hold the potential to pave the way for development of new, innovative therapeutic strategies. In this review we will introduce G protein-coupled receptor 143 (GPR143), an enigmatic receptor in terms of classification within the GPCR superfamily and localization. Read More

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NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

BMC Genomics 2022 Apr 29;23(1):332. Epub 2022 Apr 29.

Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.

Background: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photophobia, and strabismus. OCA type 1 (OCA1) and type 2 (OCA2) are caused by mutations in the tyrosinase (TYR) and OCA2 genes, which are responsible for most cases of OCA. Read More

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Ablation of H/glucose Exporter SLC45A2 Enhances Melanosomal Glycolysis to Inhibit Melanin Biosynthesis and Promote Melanoma Metastasis.

J Invest Dermatol 2022 Apr 22. Epub 2022 Apr 22.

School of Pharmaceutical Sciences, Key Laboratory of Bioorganic Phosphorus Chemistry and Chemical Biology (Ministry of Education), Tsinghua University, Beijing 100084, China; Collaborative Innovation Center for Biotherapy, State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, West China Medical School, Sichuan University, Chengdu 610065, China. Electronic address:

Mutations in SLC45A2 are responsible for oculocutaneous albinism type 4 in many species and associated with melanoma susceptibility, but the molecular mechanism is unclear. Here, we used Slc45a2-deficient melanocyte and mouse models to elucidate the roles of Slc45a2 in melanogenesis and melanoma metastasis. We find that the acidified cellular environment impairs the activity of key melanogenic enzyme tyrosinase in Slc45a2-deficient melanocytes. Read More

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Wide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.

J Pediatr Ophthalmol Strabismus 2022 Apr 21:1-15. Epub 2022 Apr 21.

Purpose: To report wide-field fundus imaging and fluorescein angiography findings in conditions mimicking retinoblastoma (pseudoretinoblastoma).

Methods: The clinical and imaging records of 28 patients (36 eyes) imaged with RetCam 3 (Clarity Medical Systems, Inc) wide-field fundus photography and fluorescein angiography who were diagnosed as having various pseudoretinoblastoma disorders between February 2020 and August 2021 were retrospectively evaluated.

Results: Most patients were referred with suspicion of retinoblastoma. Read More

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Detection of Variants and Phenotypes in Chinese Population: A Single-Center Study.

Front Genet 2022 31;13:799562. Epub 2022 Mar 31.

Department of Nephrology, Children's Hospital of Chongqing Medical University, Chongqing, China.

is a nuclear transcription factor gene that is highly conserved among species. Variants within could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about variants in Chinese children. Read More

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Methylome and transcriptome analyses of three different degrees of albinism in apple seedlings.

BMC Genomics 2022 Apr 19;23(1):310. Epub 2022 Apr 19.

Beijing Academy of Agriculture and Forestry Sciences, Beijing Academy of Forestry and Pomology Sciences, Beijing Engineering Research Center for Deciduous Fruit Trees, Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture and Rural Affairs, Beijing, 100093, China.

Background: Leaf colour mutations are universally expressed at the seedling stage and are ideal materials for exploring the chlorophyll biosynthesis pathway, carotenoid metabolism and the flavonoid biosynthesis pathway in plants.

Results: In this research, we analysed the different degrees of albinism in apple (Malus domestica) seedlings, including white-leaf mutants (WM), piebald leaf mutants (PM), light-green leaf mutants (LM) and normal leaves (NL) using bisulfite sequencing (BS-seq) and RNA sequencing (RNA-seq). There were 61,755, 79,824, and 74,899 differentially methylated regions (DMRs) and 7566, 3660, and 3546 differentially expressed genes (DEGs) identified in the WM/NL, PM/NL and LM/NL comparisons, respectively. Read More

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Au-courant and novel technologies for efficient doubled haploid development in barley ( L.).

Crit Rev Biotechnol 2022 Apr 17:1-19. Epub 2022 Apr 17.

ICAR-IIWBR, Karnal, India.

Bounteous modern and innovative biotechnological tools have resulted in progressive development in the barley breeding program. Doubled haploids developed (homozygous lines) in a single generation is significant. Since the first discovery of haploid plants in 1920 and, in particular, after discovering androgenesis in 1964 by Guha and Maheshwari, the doubled haploidy techniques have been progressively developed and constantly improved. Read More

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Oral manifestations of Chediak-Higashi syndrome: A systematic review.

Dis Mon 2022 Apr 9:101356. Epub 2022 Apr 9.

Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil. Electronic address:

Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by leukocytes with giant secretory granules and a myriad of clinical features. However, it is unknown whether oral lesions are part of the syndrome or are refractory to systemic treatment. Herein, we integrated the available data published in the literature on the oral manifestations of individuals with CHS. Read More

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Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

J Biol Chem 2022 05 10;298(5):101922. Epub 2022 Apr 10.

Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Aging Research Center, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China; The Biobank of Xiangya Hospital, Central South University, Changsha, China. Electronic address:

Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by a partial or a complete absence of pigment in the skin/hair and is also associated with common developmental eye defects. In this study, we identified two novel compound heterozygous TYR variants from a Chinese hypopigmentary patient by whole-exome sequencing. Specifically, the two variants were c. Read More

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Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans.

Cancers (Basel) 2022 Mar 30;14(7). Epub 2022 Mar 30.

School of Molecular Biosciences, Washington State University Vancouver, Vancouver, WA 98686, USA.

Melanin is the pigment that protects DNA from ultraviolet (UV) damage by absorbing excess energy. Melanin is produced in a process called melanogenesis. When melanogenesis is altered, diseases such as albinism result. Read More

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The prevalence of nonmelanoma skin cancer in a population of patients with oculocutaneous albinism in Haiti.

Int J Dermatol 2022 Jul 8;61(7):867-871. Epub 2022 Apr 8.

Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.

Background: Multiple studies have examined the prevalence of nonmelanoma skin cancers (NMSC) in patients with oculocutaneous albinism (OCA). However, to date, no studies have examined this data in Caribbean populations.

Methods: This study is a cross-sectional study of 106 patients with OCA who were seen at the Oculocutaneous Albinism Clinic in Port-au-Prince and Gros Morne, Haiti, between the dates of February 2017 and June 2018. Read More

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First record of albinism in the Crowned River Turtle, Hardella thurjii, Gray, 1831 (Reptilia: Testudines, Geoemydidae).

Zootaxa 2022 Jan 12;5091(1):197-200. Epub 2022 Jan 12.

Turtle Survival Alliance-India, D-1/317 Sector F, Jankipuram, Lucknow-226021, Uttar Pradesh, India.

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January 2022

Abnormal foveal morphology in carriers of oculocutaneous albinism.

Br J Ophthalmol 2022 Apr 4. Epub 2022 Apr 4.

Ulverscroft Eye Unit, Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK

Background/aims: To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.

Methods: Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40. Read More

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Childhood disability in rural Niger: a population-based assessment using the Key Informant Method.

BMC Pediatr 2022 03 31;22(1):170. Epub 2022 Mar 31.

Fafo, Oslo, Norway.

Background: Data on childhood disability is essential for planning health, education and other services. However, information is lacking in many low- and middle-income countries, including Niger. This study uses the Key Informant Method, an innovative and cost-effective strategy for generating population-based estimates of childhood disability, to estimate the prevalence and causes of moderate/severe impairments and disabling health conditions in children of school-going age (7-16 years) in the Kollo department of western Niger. Read More

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Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.

Transplant Direct 2022 Apr 23;8(4):e1303. Epub 2022 Mar 23.

Lung Transplant Program, Columbia University Irving Medical Center, NewYork-Presbyterian Hospital, New York, NY.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage defect with resultant bleeding diathesis, and pulmonary fibrosis. The bleeding diathesis associated with HPS had long been considered a contraindication to lung transplantation; consequently, few reports of successful lung transplantation for HPS exist.

Methods: In the largest case series on lung transplant for HPS, we describe the characteristics of 11 lung transplant candidates with HPS-related pulmonary fibrosis, and the management and outcomes of 7 patients who underwent lung transplantation. Read More

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