Genetic Diseases, X-Linked
"Genetic Diseases, X-Linked" 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.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
| Descriptor ID |
D040181
|
| MeSH Number(s) |
C16.320.322
|
| Concept/Terms |
Genetic Diseases, X-Linked- Genetic Diseases, X-Linked
- Disease, X-Linked Genetic
- Diseases, X-Linked Genetic
- Genetic Disease, X-Linked
- Genetic Diseases, X Linked
- X-Linked Genetic Disease
- Genetic Diseases, X-Chromosome Linked
- Genetic Diseases, X Chromosome Linked
- X-Linked Genetic Diseases
- X Linked Genetic Diseases
|
Below are MeSH descriptors whose meaning is more general than "Genetic Diseases, X-Linked".
Below are MeSH descriptors whose meaning is more specific than "Genetic Diseases, X-Linked".
This graph shows the total number of publications written about "Genetic Diseases, X-Linked" by people in this website by year, and whether "Genetic Diseases, X-Linked" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 0 | 1 | 1 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus. Ann Rheum Dis. 2022 Dec; 81(12):1712-1721.
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Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review. J Allergy Clin Immunol Pract. 2021 09; 9(9):3466-3478.
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Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome. Dis Model Mech. 2020 03 30; 13(3).
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Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. J Glaucoma. 2018 01; 27(1):e7-e10.
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Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation. Adv Exp Med Biol. 2016; 854:509-15.
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan; 135(1):217-27.
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Red puncta on the arm of a young Hispanic boy. Clin Exp Dermatol. 2014 Aug; 39(6):757-9.
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Eur J Hum Genet. 2012 Oct; 20(10):1032-6.
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci. 2011 Aug 29; 52(9):6814-9.
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Prenatal identification of a novel R937P L1CAM missense mutation. Genet Test Mol Biomarkers. 2009 Aug; 13(4):515-9.