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- Contiguous_gene_syndrome abstract "A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome is a clinical phenotype caused by a chromosomal abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any individual has disease causing mutations in any of the individual genes involved in the deletion. While it can be caused by deleted material on a chromosome, it is not, strictly speaking, the same entity as a segmental aneuploidy syndrome. A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to non-allelic homologous recombination between low copy repeats in the region. Most CGS involve the X chromosome and affected male individuals.One of the earliest and most famous example of a CGS involves a male patient with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa and intellectual disability. When it was discovered that an X chromosome deletion (specifically Xp21) was the underlying cause of all of these features, researchers were able to use this information to clone the genes responsible for DMD and CGD.One of those more common CGS involves a deletion on the X chromosome (near Xp21) that encompasses DMD (causing Duchenne muscular dystrophy), NROB1 (causing X-linked adrenal hypoplasia congenita) and GK (causing glycerol kinase deficiency). These patients will have all the common features of each individual disease, resulting in a very complex phenotype. Deletions near the distal tip of the p arm of the X chromosome are also a frequent cause of CGS. In addition to the previously described CGS that occur on the X chromosome, two other common syndromes are Langer-Giedion syndrome (caused by deletions of TRPS1 and EXT1 on 8q24 and WAGR syndrome (caused by deletions on 11q13 encompassing PAX6 and WT1.)".
- Contiguous_gene_syndrome wikiPageID "18814267".
- Contiguous_gene_syndrome wikiPageLength "3189".
- Contiguous_gene_syndrome wikiPageOutDegree "26".
- Contiguous_gene_syndrome wikiPageRevisionID "690562642".
- Contiguous_gene_syndrome wikiPageWikiLink Category:Chromosomal_abnormalities.
- Contiguous_gene_syndrome wikiPageWikiLink Category:Genetics.
- Contiguous_gene_syndrome wikiPageWikiLink Category:Human_genetics.
- Contiguous_gene_syndrome wikiPageWikiLink Chromosome.
- Contiguous_gene_syndrome wikiPageWikiLink Chromosome_11_(human).
- Contiguous_gene_syndrome wikiPageWikiLink Chromosome_8_(human).
- Contiguous_gene_syndrome wikiPageWikiLink Chronic_granulomatous_disease.
- Contiguous_gene_syndrome wikiPageWikiLink DAX1.
- Contiguous_gene_syndrome wikiPageWikiLink Duchenne_muscular_dystrophy.
- Contiguous_gene_syndrome wikiPageWikiLink EXT1.
- Contiguous_gene_syndrome wikiPageWikiLink Glycerol_kinase_deficiency.
- Contiguous_gene_syndrome wikiPageWikiLink Intellectual_disability.
- Contiguous_gene_syndrome wikiPageWikiLink Langer–Giedion_syndrome.
- Contiguous_gene_syndrome wikiPageWikiLink Locus_(genetics).
- Contiguous_gene_syndrome wikiPageWikiLink Molecular_cloning.
- Contiguous_gene_syndrome wikiPageWikiLink Non-allelic_homologous_recombination.
- Contiguous_gene_syndrome wikiPageWikiLink PAX6.
- Contiguous_gene_syndrome wikiPageWikiLink Phenotype.
- Contiguous_gene_syndrome wikiPageWikiLink Retinitis_pigmentosa.
- Contiguous_gene_syndrome wikiPageWikiLink Tricho-rhino-phalangeal_syndrome_Type_1.
- Contiguous_gene_syndrome wikiPageWikiLink WAGR_syndrome.
- Contiguous_gene_syndrome wikiPageWikiLink WT1.
- Contiguous_gene_syndrome wikiPageWikiLink X-linked_adrenal_hypoplasia_congenita.
- Contiguous_gene_syndrome wikiPageWikiLink X_chromosome.
- Contiguous_gene_syndrome wikiPageWikiLinkText "Contiguous gene syndrome".
- Contiguous_gene_syndrome wikiPageWikiLinkText "contiguous gene syndrome".
- Contiguous_gene_syndrome wikiPageUsesTemplate Template:Reflist.
- Contiguous_gene_syndrome subject Category:Chromosomal_abnormalities.
- Contiguous_gene_syndrome subject Category:Genetics.
- Contiguous_gene_syndrome subject Category:Human_genetics.
- Contiguous_gene_syndrome hypernym Phenotype.
- Contiguous_gene_syndrome type Disease.
- Contiguous_gene_syndrome comment "A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome is a clinical phenotype caused by a chromosomal abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any individual has disease causing mutations in any of the individual genes involved in the deletion.".
- Contiguous_gene_syndrome label "Contiguous gene syndrome".
- Contiguous_gene_syndrome sameAs Q1128743.
- Contiguous_gene_syndrome sameAs Contiguous_gene_syndrome.
- Contiguous_gene_syndrome sameAs Zespół_przyległych_genów.
- Contiguous_gene_syndrome sameAs m.04gw41p.
- Contiguous_gene_syndrome sameAs Q1128743.
- Contiguous_gene_syndrome wasDerivedFrom Contiguous_gene_syndrome?oldid=690562642.
- Contiguous_gene_syndrome isPrimaryTopicOf Contiguous_gene_syndrome.