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.
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
- X-Linked Genetic Diseases
- X Linked Genetic Diseases
- Genetic Diseases, X-Chromosome Linked
- Genetic Diseases, X Chromosome Linked
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".
- Genetic Diseases, X-Linked
- Aicardi Syndrome
- Androgen-Insensitivity Syndrome
- Barth Syndrome
- Bulbo-Spinal Atrophy, X-Linked
- Choroideremia
- Dent Disease
- Dyskeratosis Congenita
- Ectodermal Dysplasia 1, Anhidrotic
- Fabry Disease
- Focal Dermal Hypoplasia
- Glycogen Storage Disease Type IIb
- Glycogen Storage Disease Type VIII
- Granulomatous Disease, Chronic
- Hemophilia B
- Hyper-IgM Immunodeficiency Syndrome, Type 1
- Hypophosphatemic Rickets, X-Linked Dominant
- Ichthyosis, X-Linked
- Isolated Noncompaction of the Ventricular Myocardium
- Mental Retardation, X-Linked
- Muscular Dystrophy, Duchenne
- Muscular Dystrophy, Emery-Dreifuss
- Oculocerebrorenal Syndrome
- Ornithine Carbamoyltransferase Deficiency Disease
- Pelizaeus-Merzbacher Disease
- Wiskott-Aldrich Syndrome
- X-Linked Combined Immunodeficiency Diseases
This graph shows the total number of publications written about "Genetic Diseases, X-Linked" by people in Harvard Catalyst Profiles by year, and whether "Genetic Diseases, X-Linked" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 0 | 1 | 1 |
| 2003 | 2 | 2 | 4 |
| 2004 | 4 | 3 | 7 |
| 2005 | 2 | 1 | 3 |
| 2006 | 7 | 3 | 10 |
| 2007 | 6 | 0 | 6 |
| 2008 | 2 | 2 | 4 |
| 2009 | 5 | 0 | 5 |
| 2010 | 2 | 6 | 8 |
| 2011 | 10 | 3 | 13 |
| 2012 | 10 | 5 | 15 |
| 2013 | 8 | 2 | 10 |
| 2014 | 12 | 2 | 14 |
| 2015 | 12 | 1 | 13 |
| 2016 | 9 | 2 | 11 |
| 2017 | 12 | 2 | 14 |
| 2018 | 13 | 2 | 15 |
| 2019 | 9 | 0 | 9 |
| 2020 | 6 | 1 | 7 |
| 2021 | 1 | 0 | 1 |
Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder. Science. 2021 04 16; 372(6539).
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SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene. PLoS One. 2020; 15(12):e0243655.
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TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. Mov Disord. 2021 01; 36(1):206-215.
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Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Mov Disord. 2020 11; 35(11):1933-1938.
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Case 15-2020: A 79-Year-Old Man with Hyponatremia and Involuntary Movements of the Arm and Face. N Engl J Med. 2020 May 14; 382(20):1943-1950.
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Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet. 2020 02 21; 21(1):38.
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Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut. Proc Natl Acad Sci U S A. 2020 02 25; 117(8):4262-4272.
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Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. Dis Model Mech. 2020 01 10; 13(2).
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520.
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Novel CARD9 mutation in a patient with chronic invasive dermatophyte infection (tinea profunda). J Cutan Pathol. 2020 Feb; 47(2):166-170.