Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q18050669> ?p ?o }
Showing triples 1 to 18 of
18
with 100 triples per page.
- Q18050669 abstract "M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIP gene (previously known as C7orf11). Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well. One patient carries a homozygous deletion of the whole gene area, which indicates that the gene is not essential for embryonic development. TTD can be diagnosed by the presence of tigertail-striped patterns in hair visible under polarised light microscopy, or biochemically by a reduced Cys content of the hairs. Only a minority of the TTD cases carry a MPLKIP defect: more frequently, the gene ERCC2 is mutated, which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair of DNA damage.".
- Q18050669 entrezgene "136647".
- Q18050669 wikiPageWikiLink Q13048280.
- Q18050669 wikiPageWikiLink Q14908096.
- Q18050669 wikiPageWikiLink Q186474.
- Q18050669 wikiPageWikiLink Q2714458.
- Q18050669 wikiPageWikiLink Q3539030.
- Q18050669 wikiPageWikiLink Q409973.
- Q18050669 wikiPageWikiLink Q5.
- Q18050669 wikiPageWikiLink Q7187.
- Q18050669 wikiPageWikiLink Q8054.
- Q18050669 type Biomolecule.
- Q18050669 type Protein.
- Q18050669 type Thing.
- Q18050669 type Q206229.
- Q18050669 type Q8054.
- Q18050669 comment "M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIP gene (previously known as C7orf11). Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well.".
- Q18050669 label "MPLKIP".