Matches in SemOpenAlex for { <https://semopenalex.org/work/W1992755523> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W1992755523 endingPage "207" @default.
- W1992755523 startingPage "207" @default.
- W1992755523 abstract "DNA copy-number variations (CNVs) underlie many neuropsychiatric conditions, but they have been less studied in cancer. We report the association of a 17p13.1 CNV, childhood-onset developmental delay (DD), and cancer. Through a screen of over 4000 patients with diverse diagnoses, we identified eight probands harboring microdeletions at TP53 (17p13.1). We used a purpose-built high-resolution array with 93.75% breakpoint accuracy to fine map these microdeletions. Four patients were found to have a common phenotype including DD, hypotonia, and hand and foot abnormalities, constituting a unique syndrome. Notably, these patients were not affected with cancer. Moreover, none of the TP53-deletion patients affected with cancer (n = 4) had neurocognitive impairments. DD patients have larger deletions, which encompass but do not disrupt TP53, whereas cancer-affected patients harbor CNVs with at least one breakpoint within TP53. Most 17p13.1 deletions arise by Alu-mediated nonallelic homologous recombination. Furthermore, we identify a critical genomic region associated with DD and containing six underexpressed genes. We conclude that, although they overlap, 17p13.1 CNVs are associated with distinct phenotypes depending on the position of the breakpoint with respect to TP53. Further, detailed characterization of breakpoints revealed a common formation signature. Future studies should consider whether other loci in the genome also give rise to phenotypically distinct disorders by means of a common mechanism, resulting in a similar formation signature." @default.
- W1992755523 created "2016-06-24" @default.
- W1992755523 creator A5004991173 @default.
- W1992755523 creator A5008823544 @default.
- W1992755523 creator A5076561564 @default.
- W1992755523 creator A5088358470 @default.
- W1992755523 creator A5089555505 @default.
- W1992755523 date "2010-06-01" @default.
- W1992755523 modified "2023-09-26" @default.
- W1992755523 title "820 Microarray expression profile of primary human papillary thyroid carcinomas" @default.
- W1992755523 doi "https://doi.org/10.1016/s1359-6349(10)71616-5" @default.
- W1992755523 hasPublicationYear "2010" @default.
- W1992755523 type Work @default.
- W1992755523 sameAs 1992755523 @default.
- W1992755523 citedByCount "0" @default.
- W1992755523 crossrefType "journal-article" @default.
- W1992755523 hasAuthorship W1992755523A5004991173 @default.
- W1992755523 hasAuthorship W1992755523A5008823544 @default.
- W1992755523 hasAuthorship W1992755523A5076561564 @default.
- W1992755523 hasAuthorship W1992755523A5088358470 @default.
- W1992755523 hasAuthorship W1992755523A5089555505 @default.
- W1992755523 hasConcept C104317684 @default.
- W1992755523 hasConcept C120821319 @default.
- W1992755523 hasConcept C121608353 @default.
- W1992755523 hasConcept C124942203 @default.
- W1992755523 hasConcept C127716648 @default.
- W1992755523 hasConcept C141231307 @default.
- W1992755523 hasConcept C143425029 @default.
- W1992755523 hasConcept C150194340 @default.
- W1992755523 hasConcept C178169997 @default.
- W1992755523 hasConcept C186836561 @default.
- W1992755523 hasConcept C188997412 @default.
- W1992755523 hasConcept C197077220 @default.
- W1992755523 hasConcept C206936463 @default.
- W1992755523 hasConcept C2779546488 @default.
- W1992755523 hasConcept C30481170 @default.
- W1992755523 hasConcept C48931128 @default.
- W1992755523 hasConcept C501734568 @default.
- W1992755523 hasConcept C54355233 @default.
- W1992755523 hasConcept C552990157 @default.
- W1992755523 hasConcept C86803240 @default.
- W1992755523 hasConceptScore W1992755523C104317684 @default.
- W1992755523 hasConceptScore W1992755523C120821319 @default.
- W1992755523 hasConceptScore W1992755523C121608353 @default.
- W1992755523 hasConceptScore W1992755523C124942203 @default.
- W1992755523 hasConceptScore W1992755523C127716648 @default.
- W1992755523 hasConceptScore W1992755523C141231307 @default.
- W1992755523 hasConceptScore W1992755523C143425029 @default.
- W1992755523 hasConceptScore W1992755523C150194340 @default.
- W1992755523 hasConceptScore W1992755523C178169997 @default.
- W1992755523 hasConceptScore W1992755523C186836561 @default.
- W1992755523 hasConceptScore W1992755523C188997412 @default.
- W1992755523 hasConceptScore W1992755523C197077220 @default.
- W1992755523 hasConceptScore W1992755523C206936463 @default.
- W1992755523 hasConceptScore W1992755523C2779546488 @default.
- W1992755523 hasConceptScore W1992755523C30481170 @default.
- W1992755523 hasConceptScore W1992755523C48931128 @default.
- W1992755523 hasConceptScore W1992755523C501734568 @default.
- W1992755523 hasConceptScore W1992755523C54355233 @default.
- W1992755523 hasConceptScore W1992755523C552990157 @default.
- W1992755523 hasConceptScore W1992755523C86803240 @default.
- W1992755523 hasIssue "5" @default.
- W1992755523 hasLocation W19927555231 @default.
- W1992755523 hasOpenAccess W1992755523 @default.
- W1992755523 hasPrimaryLocation W19927555231 @default.
- W1992755523 hasRelatedWork W1984564195 @default.
- W1992755523 hasRelatedWork W1987347823 @default.
- W1992755523 hasRelatedWork W2057547661 @default.
- W1992755523 hasRelatedWork W2077937372 @default.
- W1992755523 hasRelatedWork W2084156934 @default.
- W1992755523 hasRelatedWork W2117047421 @default.
- W1992755523 hasRelatedWork W2162066558 @default.
- W1992755523 hasRelatedWork W2808503190 @default.
- W1992755523 hasRelatedWork W3139521007 @default.
- W1992755523 hasRelatedWork W3204880981 @default.
- W1992755523 hasVolume "8" @default.
- W1992755523 isParatext "false" @default.
- W1992755523 isRetracted "false" @default.
- W1992755523 magId "1992755523" @default.
- W1992755523 workType "article" @default.