"Albinism" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
| Descriptor ID |
D000417
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| MeSH Number(s) |
C11.270.040 C16.320.290.040 C16.320.565.100.102 C16.320.850.080 C17.800.621.440.102 C17.800.827.080 C18.452.648.100.102
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Albinism".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
Below are MeSH descriptors whose meaning is more specific than "Albinism".
This graph shows the total number of publications written about "Albinism" by people in this website by year, and whether "Albinism" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2022 | 0 | 2 | 2 |
To return to the timeline,
click here.
Below are the most recent publications written about "Albinism" by people in Profiles.
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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.
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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. Respir Res. 2022 May 04; 23(1):112.
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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. J Allergy Clin Immunol. 2016 08; 138(2):599-601.e3.
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Somatic mosaicism and allele complexity induced by CRISPR/Cas9 RNA injections in mouse zygotes. Dev Biol. 2014 Sep 01; 393(1):3-9.
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Time course analysis of gene expression during light-induced photoreceptor cell death and regeneration in albino zebrafish. Dev Neurobiol. 2007 Jul; 67(8):1009-31.
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Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis. J Pediatr Hematol Oncol. 2001 Oct; 23(7):464-8.
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Abnormal connectivity of the visual pathways in human albinos demonstrated by susceptibility-sensitized MRI. Neurology. 1994 Oct; 44(10):1921-6.
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Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev. 1993 Dec; 7(12A):2298-307.
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Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice. Nucleic Acids Res. 1990 Dec 25; 18(24):7293-8.
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Malignant melanoma in oculocutaneous albinism. Arch Dermatol. 1989 Nov; 125(11):1583-6.