Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200450820> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W4200450820 abstract "Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the FA/BRCA pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosomal, molecular, and phenotypic findings of a novel founder FANCG PV, identified in three patients with FA from the Mixe community of Oaxaca, Mexico. All patients presented chromosomal instability and a homozygous PV, FANCG: c.511-3_511-2delCA, identified by next-generation sequencing analysis. Bioinformatics predictions suggest that this deletion disrupts a splice acceptor site promoting the exon 5 skipping. Analysis of Cytoscan 750K arrays for haplotyping and global ancestry supported the Mexican origin and founder effect of the variant, reaffirming the high frequency of founder PV in FANCG. The degree of bone marrow failure and physical findings (described through the acronyms VACTERL-H and PHENOS) were used to depict the phenotype of the patients. Despite having a similar frequency of chromosomal aberrations and genetic constitution, the phenotype showed a wide spectrum of severity. The identification of a founder PV could help for a systematic and accurate genetic screening of patients with FA suspicion in this population." @default.
- W4200450820 created "2021-12-31" @default.
- W4200450820 creator A5001140682 @default.
- W4200450820 creator A5024500349 @default.
- W4200450820 creator A5025634392 @default.
- W4200450820 creator A5037670385 @default.
- W4200450820 creator A5037782803 @default.
- W4200450820 creator A5042254490 @default.
- W4200450820 creator A5044224823 @default.
- W4200450820 creator A5075187092 @default.
- W4200450820 creator A5079229508 @default.
- W4200450820 creator A5085905983 @default.
- W4200450820 creator A5087099486 @default.
- W4200450820 creator A5088508201 @default.
- W4200450820 date "2021-12-29" @default.
- W4200450820 modified "2023-10-17" @default.
- W4200450820 title "Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG" @default.
- W4200450820 doi "https://doi.org/10.20944/preprints202112.0473.v1" @default.
- W4200450820 hasPublicationYear "2021" @default.
- W4200450820 type Work @default.
- W4200450820 citedByCount "0" @default.
- W4200450820 crossrefType "posted-content" @default.
- W4200450820 hasAuthorship W4200450820A5001140682 @default.
- W4200450820 hasAuthorship W4200450820A5024500349 @default.
- W4200450820 hasAuthorship W4200450820A5025634392 @default.
- W4200450820 hasAuthorship W4200450820A5037670385 @default.
- W4200450820 hasAuthorship W4200450820A5037782803 @default.
- W4200450820 hasAuthorship W4200450820A5042254490 @default.
- W4200450820 hasAuthorship W4200450820A5044224823 @default.
- W4200450820 hasAuthorship W4200450820A5075187092 @default.
- W4200450820 hasAuthorship W4200450820A5079229508 @default.
- W4200450820 hasAuthorship W4200450820A5085905983 @default.
- W4200450820 hasAuthorship W4200450820A5087099486 @default.
- W4200450820 hasAuthorship W4200450820A5088508201 @default.
- W4200450820 hasBestOaLocation W42004508201 @default.
- W4200450820 hasConcept C104317684 @default.
- W4200450820 hasConcept C127716648 @default.
- W4200450820 hasConcept C134935766 @default.
- W4200450820 hasConcept C135763542 @default.
- W4200450820 hasConcept C195054827 @default.
- W4200450820 hasConcept C197754878 @default.
- W4200450820 hasConcept C2778124228 @default.
- W4200450820 hasConcept C2778993383 @default.
- W4200450820 hasConcept C54355233 @default.
- W4200450820 hasConcept C86803240 @default.
- W4200450820 hasConceptScore W4200450820C104317684 @default.
- W4200450820 hasConceptScore W4200450820C127716648 @default.
- W4200450820 hasConceptScore W4200450820C134935766 @default.
- W4200450820 hasConceptScore W4200450820C135763542 @default.
- W4200450820 hasConceptScore W4200450820C195054827 @default.
- W4200450820 hasConceptScore W4200450820C197754878 @default.
- W4200450820 hasConceptScore W4200450820C2778124228 @default.
- W4200450820 hasConceptScore W4200450820C2778993383 @default.
- W4200450820 hasConceptScore W4200450820C54355233 @default.
- W4200450820 hasConceptScore W4200450820C86803240 @default.
- W4200450820 hasLocation W42004508201 @default.
- W4200450820 hasOpenAccess W4200450820 @default.
- W4200450820 hasPrimaryLocation W42004508201 @default.
- W4200450820 hasRelatedWork W1581405598 @default.
- W4200450820 hasRelatedWork W1977916286 @default.
- W4200450820 hasRelatedWork W2009551211 @default.
- W4200450820 hasRelatedWork W2009892323 @default.
- W4200450820 hasRelatedWork W2062691606 @default.
- W4200450820 hasRelatedWork W2154489449 @default.
- W4200450820 hasRelatedWork W2165972113 @default.
- W4200450820 hasRelatedWork W2765381928 @default.
- W4200450820 hasRelatedWork W2915943221 @default.
- W4200450820 hasRelatedWork W4254553662 @default.
- W4200450820 isParatext "false" @default.
- W4200450820 isRetracted "false" @default.
- W4200450820 workType "article" @default.