Výsledky vyhľadávania - "ALBINISM"

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Autori: Okamura K Saito T Oiso N a ďalší

Zdroj: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2025 Nov; Vol. 38 (6), pp. e70066.

Spôsob vydávania: Journal Article; Letter

Informácie o časopise: Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism*/genetics , Albinism*/epidemiology , Family* , Mutation*/genetics, Humans ; Japan/epidemiology ; Male ; Female ; Pedigree ; Albinism, Oculocutaneous/genetics ; Albinism, Oculocutaneous/epidemiology ; Adult ; Child

Skin Cancers in People With Albinism: An Overview and Review of Literature.

Autori: Kassang P Akakpo SA Teclessou JN a ďalší

Zdroj: International journal of dermatology [Int J Dermatol] 2025 Nov; Vol. 64 (11), pp. 1986-1994. Date of Electronic Publication: 2025 Mar 10.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Blackwell Science Country of Publication: England NLM ID: 0243704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-4632 (Electronic) Linking ISSN: 00119059 NLM ISO Abbreviation: Int J Dermatol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Skin Neoplasms*/epidemiology , Skin Neoplasms*/etiology , Albinism*/complications , Albinism*/epidemiology , Carcinoma, Squamous Cell*/epidemiology , Carcinoma, Squamous Cell*/etiology , Carcinoma, Basal Cell*/epidemiology , Carcinoma, Basal Cell*/etiology , Melanoma*/epidemiology, Humans ; Female ; Male ; Africa/epidemiology

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.

Autori: Lv S Hao Z Li W a ďalší

Zdroj: The Journal of investigative dermatology [J Invest Dermatol] 2025 Nov; Vol. 145 (11), pp. 2798-2810.e5. Date of Electronic Publication: 2025 Apr 17.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Oculocutaneous*/genetics , Albinism, Oculocutaneous*/diagnosis , Monophenol Monooxygenase*/genetics , Monophenol Monooxygenase*/metabolism, Child ; Female ; Humans ; Male ; China ; Genetic Testing/methods ; Mutation ; East Asian People/genetics

SCR Disease Name: Oculocutaneous albinism type 1

Multi-Omics Analysis of the Potential Mechanisms of Skin Albinism in Edangered Percocypris pingi : Abnormal Ubiquitination and Calcium Signal Inhibition.

Autori: Liu S Wu X Zou Q a ďalší

Zdroj: Cells [Cells] 2025 Oct 27; Vol. 14 (21). Date of Electronic Publication: 2025 Oct 27.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism*/genetics , Albinism*/metabolism , Calcium Signaling* , Proteomics*/methods , Ubiquitination*, Animals ; Fish Proteins/metabolism ; Fish Proteins/genetics ; Melanins/metabolism ; Melanosomes/metabolism ; Multiomics ; Skin/metabolism ; Skin/pathology ; Skin Pigmentation ; Transcriptome ; Endangered Species

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.

Autori: Butkovič R Healy MD de Heus C a ďalší

Zdroj: Nature communications [Nat Commun] 2025 Oct 02; Vol. 16 (1), pp. 8794. Date of Electronic Publication: 2025 Oct 02.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Výrazy zo slovníka MeSH: rab GTP-Binding Proteins*/metabolism , rab GTP-Binding Proteins*/genetics , Albinism, Oculocutaneous*/genetics , Albinism, Oculocutaneous*/metabolism , Sorting Nexins*/metabolism , Sorting Nexins*/genetics, Humans ; Melanosomes/metabolism ; Melanocytes/metabolism ; Protein Transport ; Mutation ; Protein Binding ; HEK293 Cells ; Cell Membrane/metabolism

A genome-wide association study for the red-eyed trait (ocular albinism) in an F2 population of guppy (Poecilia reticulata).

Autori: Chang Y Wu S Li J a ďalší

Zdroj: Animal genetics [Anim Genet] 2025 Oct; Vol. 56 (5), pp. e70045.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

Výrazy zo slovníka MeSH: Poecilia*/genetics , Albinism, Ocular*/genetics , Albinism, Ocular*/veterinary , Fish Diseases*/genetics, Animals ; Genome-Wide Association Study/veterinary ; Phenotype ; Female ; Male

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).

Autori: Köller AF Käsmann-Kellner B Benseler F a ďalší

Zdroj: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2025 Oct 01; Vol. 66 (13), pp. 14.

Spôsob vydávania: Journal Article; Case Reports

Informácie o časopise: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Oculocutaneous*/genetics , Albinism, Oculocutaneous*/pathology , Albinism, Oculocutaneous*/metabolism , Synapses*/ultrastructure , Synapses*/pathology , Photoreceptor Cells, Vertebrate*/ultrastructure , Photoreceptor Cells, Vertebrate*/pathology, Humans ; Adult ; Monophenol Monooxygenase/genetics ; Microscopy, Electron, Transmission ; Male ; Eye Proteins/genetics ; Female

SCR Disease Name: Oculocutaneous albinism type 1

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

Autori: George A Pfister T DeYoung C a ďalší

Zdroj: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2025 Oct 01; Vol. 66 (13), pp. 4.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Retinal Pigment Epithelium*/ultrastructure , Retinal Pigment Epithelium*/metabolism , Retinal Pigment Epithelium*/pathology , Melanosomes*/metabolism , Melanosomes*/pathology , Melanosomes*/ultrastructure , Monophenol Monooxygenase*/deficiency , Monophenol Monooxygenase*/genetics , Albinism, Oculocutaneous*/genetics , Albinism, Oculocutaneous*/pathology , Albinism, Oculocutaneous*/metabolism, Humans ; Induced Pluripotent Stem Cells ; Blotting, Western ; Cell Differentiation ; Cells, Cultured

SCR Disease Name: Oculocutaneous albinism type 1

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.

Autori: Mamaeva D Erkilic N Vaché C a ďalší

Zdroj: Stem cell research [Stem Cell Res] 2025 Oct; Vol. 88, pp. 103810. Date of Electronic Publication: 2025 Aug 20.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Oculocutaneous*/genetics , Albinism, Oculocutaneous*/pathology , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/cytology , Intramolecular Oxidoreductases*/genetics , Intramolecular Oxidoreductases*/metabolism, Humans ; Heterozygote ; Cell Line

Investigating visual search performance in children with albinism and their peers with other visual impairment.

Autori: Nagarajan K Periakaruppan SP Sumalini R a ďalší

Zdroj: Optometry and vision science : official publication of the American Academy of Optometry [Optom Vis Sci] 2025 Nov 01; Vol. 102 (11), pp. 691-698. Date of Electronic Publication: 2025 Sep 18.

Spôsob vydávania: Journal Article; Comparative Study

Informácie o časopise: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8904931 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-9235 (Electronic) Linking ISSN: 10405488 NLM ISO Abbreviation: Optom Vis Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Vision Disorders*/physiopathology , Albinism*/physiopathology , Visual Perception*/physiology, Humans ; Child ; Male ; Female ; Adolescent ; Visual Acuity/physiology ; Reaction Time ; Reading ; Child, Preschool ; Nystagmus, Pathologic/physiopathology

Histopathological Characteristics and Multi-Omics Analysis of Ocular Pigmentation Defects in Albino Percocypris pingi .

Autori: Liu S Wu X Zou Q a ďalší

Zdroj: Cells [Cells] 2025 Sep 04; Vol. 14 (17). Date of Electronic Publication: 2025 Sep 04.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Výrazy zo slovníka MeSH: Proteomics*/methods , Pigmentation* , Eye*/pathology , Eye*/metabolism , Albinism, Ocular*/pathology , Albinism, Ocular*/genetics , Albinism, Ocular*/metabolism, Animals ; Melanins/metabolism ; Melanins/biosynthesis ; Monophenol Monooxygenase/metabolism ; Transcriptome ; Multiomics

Nystagmus characteristics and their impact on pattern-reversal VEP in patients with albinism.

Autori: Talsma HE de Wit GC Kruijt CC a ďalší

Zdroj: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2025 Aug; Vol. 151 (1), pp. 45-56. Date of Electronic Publication: 2025 Jun 03.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Nystagmus, Pathologic*/physiopathology , Evoked Potentials, Visual*/physiology , Albinism, Ocular*/physiopathology , Albinism*/physiopathology, Humans ; Visual Acuity/physiology ; Male ; Female ; Adult ; Adolescent ; Middle Aged ; Child ; Young Adult ; Child, Preschool ; Aged ; Reproducibility of Results

GPR143 -Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

Autori: Aneja A Bohnsack BL Allegretti V a ďalší

Zdroj: Genes [Genes (Basel)] 2025 Jul 30; Vol. 16 (8). Date of Electronic Publication: 2025 Jul 30.

Spôsob vydávania: Journal Article; Case Reports; Review

Informácie o časopise: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Ocular*/genetics , Albinism, Ocular*/pathology , Eye Proteins*/genetics , Membrane Glycoproteins*/genetics, Humans ; Male ; Adolescent ; Pedigree ; Hispanic or Latino/genetics ; Female ; Phenotype ; Mutation ; Genetic Association Studies ; Whole Genome Sequencing ; White

Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation.

Autori: Jacinto JGP Leuenberger T Hauser M a ďalší

Zdroj: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2025 Sep 06; Vol. 300 (1), pp. 91. Date of Electronic Publication: 2025 Sep 06.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

Výrazy zo slovníka MeSH: Cattle Diseases*/genetics , Cattle Diseases*/pathology , Hair Color*/genetics , Albinism*/genetics , Albinism*/veterinary, Animals ; Cattle ; Phenotype ; Pedigree ; Male ; Female ; Mutation, Missense ; Whole Genome Sequencing

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.

Autori: Chen S Yi Z Zheng Y a ďalší

Zdroj: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2025 Sep 02; Vol. 66 (12), pp. 69.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Ocular*/genetics , Albinism, Ocular*/metabolism , Albinism, Ocular*/diagnosis , Eye Proteins*/genetics , Eye Proteins*/metabolism , Iris*/pathology , Membrane Glycoproteins*/genetics , Membrane Glycoproteins*/metabolism , Mutation*, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Young Adult ; China/epidemiology ; DNA Mutational Analysis ; Fundus Oculi ; Pedigree ; Phenotype ; Pigmentation ; East Asian People/genetics

Non-melanoma skin cancer and HPV in persons with albinism: a call for research investment.

Autori: Simba H McCormack V Bilaba J a ďalší

Zdroj: British journal of cancer [Br J Cancer] 2025 Sep; Vol. 133 (5), pp. 599-603. Date of Electronic Publication: 2025 Jul 04.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1827 (Electronic) Linking ISSN: 00070920 NLM ISO Abbreviation: Br J Cancer Subsets: MEDLINE

Výrazy zo slovníka MeSH: Skin Neoplasms*/virology , Skin Neoplasms*/epidemiology , Skin Neoplasms*/etiology , Skin Neoplasms*/prevention & control , Papillomavirus Infections*/complications , Papillomavirus Infections*/epidemiology , Papillomavirus Infections*/virology , Albinism*/complications , Albinism*/virology , Albinism*/epidemiology, Humans ; Ultraviolet Rays/adverse effects

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.

Autori: Rausch J Herold S Liebhäuser S a ďalší

Zdroj: Frontiers in immunology [Front Immunol] 2025 Aug 07; Vol. 16, pp. 1604460. Date of Electronic Publication: 2025 Aug 07 (Print Publication: 2025).

Spôsob vydávania: Case Reports; Journal Article

Informácie o časopise: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Lymphohistiocytosis, Hemophagocytic*/diagnosis , Lymphohistiocytosis, Hemophagocytic*/genetics , Lymphohistiocytosis, Hemophagocytic*/therapy , Lymphohistiocytosis, Hemophagocytic*/immunology , Piebaldism*/diagnosis , Piebaldism*/genetics , Piebaldism*/therapy , Piebaldism*/immunology , rab27 GTP-Binding Proteins*/genetics , Primary Immunodeficiency Diseases*/diagnosis , Primary Immunodeficiency Diseases*/genetics , Primary Immunodeficiency Diseases*/therapy , Albinism*/diagnosis , Albinism*/genetics, Humans ; Female ; Adolescent ; Killer Cells, Natural/immunology ; Phenotype ; Cell Degranulation ; Hematopoietic Stem Cell Transplantation ; Mutation, Missense

SCR Disease Name: Griscelli syndrome type 2

Knocking out genes to reveal drivers of natural selection on phenotypic traits: a study of the fitness consequences of albinism.

Autori: Funk AT Martin J Clark M a ďalší

Zdroj: Proceedings. Biological sciences [Proc Biol Sci] 2025 Aug; Vol. 292 (2053), pp. 20251458. Date of Electronic Publication: 2025 Aug 27.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Royal Society of London Country of Publication: England NLM ID: 101245157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-2954 (Electronic) Linking ISSN: 09628452 NLM ISO Abbreviation: Proc Biol Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Selection, Genetic* , Albinism*/genetics , Albinism*/veterinary , Bufo marinus*/genetics , Bufo marinus*/physiology , Bufo marinus*/growth & development , Genetic Fitness*, Animals ; Phenotype ; Larva/growth & development ; Larva/genetics ; Larva/physiology ; Gene Knockout Techniques ; Pigmentation/genetics

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.

Autori: Ali AA Saleem ZSM Jabali SS a ďalší

Zdroj: BMC nephrology [BMC Nephrol] 2025 Jul 11; Vol. 26 (1), pp. 375. Date of Electronic Publication: 2025 Jul 11.

Spôsob vydávania: Journal Article; Case Reports

Informácie o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Albinism, Oculocutaneous*/genetics , Hermanski-Pudlak Syndrome*/genetics , Hermanski-Pudlak Syndrome*/complications , Hermanski-Pudlak Syndrome*/diagnosis , Kidney Diseases*/genetics , Kidney Diseases*/diagnosis , Melanosis*/genetics , Melanosis*/diagnosis , Membrane Proteins*/genetics, Humans ; Kidney/pathology ; Kidney/metabolism ; Kidney Transplantation ; Melanins/urine ; Melanins/metabolism ; Mutation/genetics

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

Autori: Mercier E Trégouët DA Campagne S a ďalší

Zdroj: PLoS genetics [PLoS Genet] 2025 Sep 25; Vol. 21 (9), pp. e1011801. Date of Electronic Publication: 2025 Sep 25 (Print Publication: 2025).

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Výrazy zo slovníka MeSH: Membrane Transport Proteins*/genetics , Albinism, Oculocutaneous*/genetics , Hypopigmentation*/genetics , Hypopigmentation*/pathology, Humans ; Exons/genetics ; Animals ; Mice ; Polymorphism, Single Nucleotide ; Mutation, Missense ; Alternative Splicing/genetics ; Introns/genetics