Matches in SemOpenAlex for { <https://semopenalex.org/work/W1998198788> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W1998198788 endingPage "408" @default.
- W1998198788 startingPage "403" @default.
- W1998198788 abstract "Normal human centromeres contain large tandem arrays of α-satellite DNA of varying composition and complexity. However, a new class of mitotically stable marker chromosomes which contain neocentromeres formed from genomic regions previously devoid of centromere activity was described recently. These neocentromeres are fully functional yet lack the repeat sequences traditionally associated with normal centromere function. We report here a supernumerary marker chromosome derived from the short arm of chromosome 20 in a patient with manifestations of dup(20p) syndrome. Detailed cytogenetic, FISH, and polymorphic microsatellite analyses indicate the de novo formation of the marker chromosome during meiosis or early postzygotically, involving an initial chromosome breakage at 20p11.2, followed by an inverted duplication of the distal 20p segment due to rejoining of sister chromatids and the activation of a neocentromere within 20p12. This inv dup(20p) marker chromosome lacks detectable centromeric α-satellite and pericentric satellite III sequences, or centromere protein CENP-B. Functional activity of the neocentromere is evidenced by its association with 5 different, functionally critical centromere proteins: CENP-A, CENP-C, CENP-E, CENP-F, and INCENP. Formation of a neocentromere on human chromosome 20 has not been reported previously and in this context represents a new mechanism for the origin of dup(20p) syndrome. Am. J. Med. Genet. 85:403–408, 1999. © 1999 Wiley-Liss, Inc." @default.
- W1998198788 created "2016-06-24" @default.
- W1998198788 creator A5000135579 @default.
- W1998198788 creator A5013697396 @default.
- W1998198788 creator A5038929472 @default.
- W1998198788 creator A5042604373 @default.
- W1998198788 creator A5043096812 @default.
- W1998198788 creator A5066980521 @default.
- W1998198788 creator A5075571514 @default.
- W1998198788 creator A5082673477 @default.
- W1998198788 date "1999-08-06" @default.
- W1998198788 modified "2023-10-11" @default.
- W1998198788 title "Trisomy 20p resulting from inverted duplication and neocentromere formation" @default.
- W1998198788 cites W140618674 @default.
- W1998198788 cites W170031742 @default.
- W1998198788 cites W1976537757 @default.
- W1998198788 cites W1980368135 @default.
- W1998198788 cites W2004210788 @default.
- W1998198788 cites W2008145456 @default.
- W1998198788 cites W2015104323 @default.
- W1998198788 cites W2015989803 @default.
- W1998198788 cites W2018204660 @default.
- W1998198788 cites W2023431649 @default.
- W1998198788 cites W2046191799 @default.
- W1998198788 cites W2055486450 @default.
- W1998198788 cites W2061941091 @default.
- W1998198788 cites W2091674449 @default.
- W1998198788 cites W2092405336 @default.
- W1998198788 cites W2111265221 @default.
- W1998198788 cites W2126749136 @default.
- W1998198788 cites W2126803505 @default.
- W1998198788 cites W2136403570 @default.
- W1998198788 cites W2136460759 @default.
- W1998198788 cites W2136719197 @default.
- W1998198788 cites W2142385508 @default.
- W1998198788 cites W2155235554 @default.
- W1998198788 cites W2159234539 @default.
- W1998198788 cites W2161647138 @default.
- W1998198788 cites W2163542193 @default.
- W1998198788 cites W953954205 @default.
- W1998198788 doi "https://doi.org/10.1002/(sici)1096-8628(19990806)85:4<403::aid-ajmg18>3.0.co;2-r" @default.
- W1998198788 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10398268" @default.
- W1998198788 hasPublicationYear "1999" @default.
- W1998198788 type Work @default.
- W1998198788 sameAs 1998198788 @default.
- W1998198788 citedByCount "32" @default.
- W1998198788 countsByYear W19981987882012 @default.
- W1998198788 countsByYear W19981987882014 @default.
- W1998198788 countsByYear W19981987882015 @default.
- W1998198788 countsByYear W19981987882021 @default.
- W1998198788 countsByYear W19981987882022 @default.
- W1998198788 crossrefType "journal-article" @default.
- W1998198788 hasAuthorship W1998198788A5000135579 @default.
- W1998198788 hasAuthorship W1998198788A5013697396 @default.
- W1998198788 hasAuthorship W1998198788A5038929472 @default.
- W1998198788 hasAuthorship W1998198788A5042604373 @default.
- W1998198788 hasAuthorship W1998198788A5043096812 @default.
- W1998198788 hasAuthorship W1998198788A5066980521 @default.
- W1998198788 hasAuthorship W1998198788A5075571514 @default.
- W1998198788 hasAuthorship W1998198788A5082673477 @default.
- W1998198788 hasConcept C104317684 @default.
- W1998198788 hasConcept C130773972 @default.
- W1998198788 hasConcept C192838845 @default.
- W1998198788 hasConcept C30481170 @default.
- W1998198788 hasConcept C53226629 @default.
- W1998198788 hasConcept C54355233 @default.
- W1998198788 hasConcept C63491729 @default.
- W1998198788 hasConcept C86803240 @default.
- W1998198788 hasConceptScore W1998198788C104317684 @default.
- W1998198788 hasConceptScore W1998198788C130773972 @default.
- W1998198788 hasConceptScore W1998198788C192838845 @default.
- W1998198788 hasConceptScore W1998198788C30481170 @default.
- W1998198788 hasConceptScore W1998198788C53226629 @default.
- W1998198788 hasConceptScore W1998198788C54355233 @default.
- W1998198788 hasConceptScore W1998198788C63491729 @default.
- W1998198788 hasConceptScore W1998198788C86803240 @default.
- W1998198788 hasIssue "4" @default.
- W1998198788 hasLocation W19981987881 @default.
- W1998198788 hasLocation W19981987882 @default.
- W1998198788 hasOpenAccess W1998198788 @default.
- W1998198788 hasPrimaryLocation W19981987881 @default.
- W1998198788 hasRelatedWork W1586174670 @default.
- W1998198788 hasRelatedWork W1957377060 @default.
- W1998198788 hasRelatedWork W2001978323 @default.
- W1998198788 hasRelatedWork W2002037873 @default.
- W1998198788 hasRelatedWork W2009362775 @default.
- W1998198788 hasRelatedWork W2075749722 @default.
- W1998198788 hasRelatedWork W2355721012 @default.
- W1998198788 hasRelatedWork W2357120530 @default.
- W1998198788 hasRelatedWork W2495570492 @default.
- W1998198788 hasRelatedWork W2573610673 @default.
- W1998198788 hasVolume "85" @default.
- W1998198788 isParatext "false" @default.
- W1998198788 isRetracted "false" @default.
- W1998198788 magId "1998198788" @default.
- W1998198788 workType "article" @default.