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 |
|---|
| 2005 | 1 | 1 | 2 |
| 2007 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2021 | 0 | 1 | 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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Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies. Sci Transl Med. 2021 02 10; 13(580).
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 12; 103(12):2008-2015.
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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. Pediatrics. 2018 04; 141(Suppl 5):S515-S519.
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?-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013 Jun; 136(Pt 6):1708-17.
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Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 01; 96(1):109-19.
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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15; 21(20):4497-507.
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Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2010 Sep 07; 107(36):15838-43.
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Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat. 2007 May; 28(5):525.
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X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005 Oct; 20(10):852-7.