Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022280090> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2022280090 endingPage "214" @default.
- W2022280090 startingPage "209" @default.
- W2022280090 abstract "Neurofibromatosis type 1 (NF1) is a frequent hereditary disorder that involves tissues derived from the embryonic neural crest. Besides the functional gene on chromosome arm 17q, NF1-related sequences (pseudogenes) are present on a number of chromosomes including 2, 12, 14, 15, 18, 21, and 22. We elucidated the complete nucleotide sequence of the NF1 pseudogene on chromosome 22. Only the middle part of the functional gene but not exons 21–27a, encoding the functionally important GAP-related domain of the NF1 protein, is presented in this pseudogene. In addition to the two known NF1 pseudogenes on chromosome 14 we identified two novel variants. A phylogenetic tree was constructed, from which we concluded that the NF1 pseudogenes on chromosomes 2, 14, and 22 are closely related to each other. Clones containing one of these pseudogenes cross-hybridised with the other pseudogenes in this subset, but did not reveal any in situ hybridisation with the functional NF1 gene or with NF1 pseudogenes on other chromosomes. This suggests that their hybridisation specificity is mainly determined by homologous sequences flanking the pseudogenes. Strong support for this concept was obtained by sequence analysis of the flanking regions, which revealed more than 95% homology. We hypothesise that during evolution this subset of NF1 pseudogenes initially arose by duplication and transposition of the middle part of the functional NF1 gene to chromosome 2. Subsequently, a much larger fragment, including flanking sequences, was duplicated and gave rise to the current NF1 pseudogene copies on chromosomes 14 and 22." @default.
- W2022280090 created "2016-06-24" @default.
- W2022280090 creator A5012080038 @default.
- W2022280090 creator A5016213429 @default.
- W2022280090 creator A5045485506 @default.
- W2022280090 creator A5057492548 @default.
- W2022280090 creator A5060601168 @default.
- W2022280090 creator A5070734184 @default.
- W2022280090 creator A5080477024 @default.
- W2022280090 creator A5091199838 @default.
- W2022280090 date "2000-03-01" @default.
- W2022280090 modified "2023-10-12" @default.
- W2022280090 title "Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22" @default.
- W2022280090 doi "https://doi.org/10.1038/sj.ejhg.5200434" @default.
- W2022280090 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10780787" @default.
- W2022280090 hasPublicationYear "2000" @default.
- W2022280090 type Work @default.
- W2022280090 sameAs 2022280090 @default.
- W2022280090 citedByCount "35" @default.
- W2022280090 countsByYear W20222800902014 @default.
- W2022280090 countsByYear W20222800902016 @default.
- W2022280090 countsByYear W20222800902019 @default.
- W2022280090 countsByYear W20222800902020 @default.
- W2022280090 countsByYear W20222800902021 @default.
- W2022280090 countsByYear W20222800902023 @default.
- W2022280090 crossrefType "journal-article" @default.
- W2022280090 hasAuthorship W2022280090A5012080038 @default.
- W2022280090 hasAuthorship W2022280090A5016213429 @default.
- W2022280090 hasAuthorship W2022280090A5045485506 @default.
- W2022280090 hasAuthorship W2022280090A5057492548 @default.
- W2022280090 hasAuthorship W2022280090A5060601168 @default.
- W2022280090 hasAuthorship W2022280090A5070734184 @default.
- W2022280090 hasAuthorship W2022280090A5080477024 @default.
- W2022280090 hasAuthorship W2022280090A5091199838 @default.
- W2022280090 hasBestOaLocation W20222800901 @default.
- W2022280090 hasConcept C104317684 @default.
- W2022280090 hasConcept C141231307 @default.
- W2022280090 hasConcept C165525559 @default.
- W2022280090 hasConcept C30481170 @default.
- W2022280090 hasConcept C34957205 @default.
- W2022280090 hasConcept C54355233 @default.
- W2022280090 hasConcept C86803240 @default.
- W2022280090 hasConceptScore W2022280090C104317684 @default.
- W2022280090 hasConceptScore W2022280090C141231307 @default.
- W2022280090 hasConceptScore W2022280090C165525559 @default.
- W2022280090 hasConceptScore W2022280090C30481170 @default.
- W2022280090 hasConceptScore W2022280090C34957205 @default.
- W2022280090 hasConceptScore W2022280090C54355233 @default.
- W2022280090 hasConceptScore W2022280090C86803240 @default.
- W2022280090 hasIssue "3" @default.
- W2022280090 hasLocation W20222800901 @default.
- W2022280090 hasLocation W20222800902 @default.
- W2022280090 hasOpenAccess W2022280090 @default.
- W2022280090 hasPrimaryLocation W20222800901 @default.
- W2022280090 hasRelatedWork W1964274011 @default.
- W2022280090 hasRelatedWork W1981393315 @default.
- W2022280090 hasRelatedWork W1999325162 @default.
- W2022280090 hasRelatedWork W2004096242 @default.
- W2022280090 hasRelatedWork W2029633625 @default.
- W2022280090 hasRelatedWork W2040571417 @default.
- W2022280090 hasRelatedWork W2053836572 @default.
- W2022280090 hasRelatedWork W2082080217 @default.
- W2022280090 hasRelatedWork W2128983848 @default.
- W2022280090 hasRelatedWork W4233150668 @default.
- W2022280090 hasVolume "8" @default.
- W2022280090 isParatext "false" @default.
- W2022280090 isRetracted "false" @default.
- W2022280090 magId "2022280090" @default.
- W2022280090 workType "article" @default.