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  • Ocular Albinism

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#1
A. James & Alice B. Clark Foundation
A. James & Alice B. Clark Foundation
Known for star star star star star
Visual Function | Macular Pigment | Zeaxanthin Supplementation | Albinism Lutein
#2
Andrea Ballabio
Andrea Ballabio
From the Telethon Institute of Genetics and Medicine, Naples, Italy; the Department of Medical Genetics, Second University of Naples, Naples, Italy
Known for star star star star star_border
Ocular Albinism | Kallmann Syndrome | Sulfatase Deficiency | Lysosomal Biogenesis

#3
Maria Vittoria Schiaffino
Maria Vittoria Schiaffino
Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy
Known for star star star star star_border
Ocular Albinism | Oa1 Gene | North America | Pigment Cells
#4
Valeria A. Marigo
Valeria A. Marigo
Institute of Histology and Embryology of the University of Padova, Via Trieste, 75 35100, Padova, Italy
Known for star star star star star_border
Sonic Hedgehog | Ocular Albinism | Retinal Degeneration | Retinitis Pigmentosa
#5
Maria Teresa Bassi
Maria Teresa Bassi
Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini (Lecco), Italy
Known for star star star star star_border
Ocular Albinism | Corpus Callosum | Hereditary Spastic Paraplegia | Oa1 Gene
#6
Enrico Maria Surace
Enrico Maria Surace
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy, . Medical Genetics, Department of Translational Medicine, Federico II University, Naples ...
Known for star star star star star_border
Gene Therapy | Ocular Albinism | Adeno-Associated Virus | Leber Congenital Amaurosis
#7
Carlo Tacchetti
Carlo Tacchetti
Laboratoire de Physiopathologie du Développement, CNRS, Ecole Normale Supérieure, Paris, France.
Known for star star star star star_border
Ocular Albinism | Electron Microscopy | Suspension Culture | Tumor Growth
#8
Seth J. Orlow
Seth J. Orlow
Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, U.S.A. Department of Cell Biology, New York University School of Medicine, ...
Known for star star star star star_border
Melanoma Cells | Alopecia Areata | Congenital Melanocytic Nevi | Oculocutaneous Albinism
#9
Arthur A. B. Bergen
Arthur A. B. Bergen
From the Department of Ophthalmology (EHCVD, DEMD, MV, GPML, MJDL, CJFB, PAVDV), Leiden University Medical Center, Leiden; Department of Ophthalmology (AABB); Department of ...
Known for star star star star star_border
Pseudoxanthoma Elasticum | Gene Expression | Retinitis Pigmentosa | Circadian Clock
#10
Barbara Incerti
Barbara Incerti
Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, Texas, USA
Known for star star star star star_border
Ocular Albinism | Lysinuric Protein Intolerance | Kallmann Syndrome | Southern Italy
#11
Daiki Masukawa
Daiki Masukawa
Department of Toxicology, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Tokyo, Japan (T.M., Y.S., K.M., M.S., M.H., E.W., D.M., K.Y., T.S.); Laboratory of ...
Known for star star star star star_border
Ocular Albinism | Nociceptive Processing | Neurite Outgrowth | Gene Product
#12
Richard Alan Lewis
Richard Alan Lewis
Departments of Molecular and Human Genetics, Pediatrics and Texas Children's Hospital, Ophthalmology, Neurology, Radiology, and Otolaryngology, Human Genome Center, Baylor ...
Known for star star star star star_border
Aicardi Syndrome | Retinitis Pigmentosa | Primary Congenital Glaucoma | Oa1 Gene
#13
Katia Cortese
Katia Cortese
Centro di Ricerca MicroSCoBio/IFOM, FIRC Institute of Molecular Oncology, Dipartimento di Medicina Sperimentale, Sezione di Anatomia Umana, Università di Genova, Genova, Italy
Known for star star star star star_border
Electron Microscopy | Extracellular Vesicles | Ocular Albinism | Tumor Suppression
#14
Anthony Thomas Moore
Anthony Thomas Moore
Moorfields Eye Hospital NHS Foundation Trust, EC1V 2PD, London, UK Ophthalmology Department, University of California School of Medicine, 94158, San Francisco, CA, USA
Known for star star star star star_border
Retinal Dystrophy | Age-Related Macular Degeneration | Retinitis Pigmentosa | Visual Acuity
#15
Stephen J. Charles
Stephen J. Charles
Manchester Royal Eye Hospital (Drs Muqit, Henson, Young, Patton, Charles, Turner, and Stanga), and University of Manchester (Drs Muqit, Henson, and Stanga), Manchester, England
Known for star star star star star_border
Oa1 Gene | Ocular Albinism | Laser Tomography | Vitreoretinal Surgery
#16
Michele L. De Luca
Michele L. De Luca
Department of Scienze Biomediche, University of Modena and Reggio Emilia, 41100 Modena, Italy
Known for star star star star star_border
Stem Cells | Gene Therapy | Epidermolysis Bullosa | Tsh Receptor
#17
Consuelo Venturi
Consuelo Venturi
MicroSCoBiO Research Center and IFOM Center of Cell Oncology and Ultrastructure, Dipartimento di Medicina Sperimentale, Università di Genova, Italy
Known for star star star star star_border
Ocular Albinism | Redox Stress | Endoplasmic Reticulum | Neuronal Network

 

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A Randomized Placebo-Controlled Trial To Investigate The Effect Of Lutein And...

[ CLINICAL_TRIAL ] ... oculocutaneous albinism. Lutein and zeaxanthin supplementation will be compared to a placebo (no treatment) gel pill over the period of 12 months, with study visits approximately every 3 ...
Known for star star star star star
Visual Function | Macular Pigment | Zeaxanthin Supplementation | Albinism Lutein

Visual Function And Ocular Pigmentation In Albinism. Visual Function And Ocular...

[ CLINICAL_TRIAL ] ... with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism. Detailed Description Visual function and ocular pigmentation ...
Known for star star star star star
Ocular Pigmentation | Visual Function | Albinism Disorders | Retina Choroidal

Clinical, Cellular, And Molecular Investigations Into Oculocutaneous Albinism....

[ CLINICAL_TRIAL ] ... hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment ...
Known for star star star star star
Oculocutaneous Albinism | Ocular Hypopigmentation | Oca Genes | Gene Inherited

Detailed Retinal Imaging In Carriers Of Ocular Albinism

[ PUBLICATION ] ... both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder ...
Known for star star star star star_border
Ocular Albinism | Detailed Retinal Imaging | Female Carriers | Fundus Autofluorescence

A Novel Nonsense Mutation Of The Gpr143 Gene Identified In A Chinese Pedigree...

[ PUBLICATION ] ... ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in ...
Known for star star star star star_border
Ocular Albinism | Gpr143 Gene | Chinese Pedigree | Nonsense Mutation

The Ocular Albinism Type 1 Protein, An Intracellular G Protein-Coupled Receptor,...

[ PUBLICATION ] ... the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes. Loss ...
Known for star star star star star_border
Pigment Cells | Ocular Albinism | Melanosome Transport | 1 Protein

Ocular Albinism With Infertility And Late‐onset Sensorineural Hearing Loss

[ PUBLICATION ]
Known for star star star star star_border
Ocular Albinism | Hearing Loss | Onset Sensorineural | Gpr143 Gene

Oa1 Knock-Out: New Insights On The Pathogenesis Of Ocular Albinism Type 1

[ PUBLICATION ]
Known for star star star star star_border
Ocular Albinism | Giant Melanosomes | Microscopic Examination | Mutant Animals

Diverse Prevalence Of Large Deletions Within The Oa1 Gene In Ocular Albinism Type...

[ PUBLICATION ] Abstract. Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of ...
Known for star star star star star_border
North America | Oa1 Gene | Ocular Albinism | Intragenic Deletions

Deletion Analysis Maps Ocular Albinism Proximal To The Steroid Sulphatase Locus

[ PUBLICATION ] ... ocular albinism. In two out of four affected individuals studied, there was unilateral renal agenesis. Deletion analysis using the Xp22.32 markers MIC2, DXS31, DXS 89,
Known for star star star star star_border
Ocular Albinism | Steroid Sulphatase Locus | Unilateral Renal Agenesis | Male Members