 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
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| MeSH Number(s) |
C16.320.322
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| 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
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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 this website by year, and whether "Genetic Diseases, X-Linked" 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 |
|---|
| 2007 | 1 | 0 | 1 | | 2009 | 2 | 0 | 2 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 3 | 1 | 4 | | 2017 | 2 | 0 | 2 |
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Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kalwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018 03; 141(3):1036-1049.e5.
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Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. Wieacker-Wolff syndrome with associated cleft palate in a female case. Am J Med Genet A. 2018 Jan; 176(1):167-170.
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Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8.
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Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, Qian H, Li T, Khanna H, Colosi P, Swaroop A, Wu Z. Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Hum Mol Genet. 2015 Nov 15; 24(22):6446-58.
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Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. Eur J Hum Genet. 2016 Apr; 24(4):550-5.
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Gerrits AJ, Leven EA, Frelinger AL, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB. Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood. 2015 Sep 10; 126(11):1367-78.
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Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30; 124(18):2867-71.
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Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H. Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2013 Jul 02; 54(7):4503-11.
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Beltran WA, Cideciyan AV, Lewin AS, Iwabe S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A. 2012 Feb 7; 109(6):2132-7.
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Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice. J Clin Invest. 2011 Nov; 121(11):4383-92.
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