Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893684687> ?p ?o ?g. }
Showing items 1 to 53 of
53
with 100 items per page.
- W2893684687 abstract "In mice, mutations or targeted disruptions of the core circadian gene Bmal1 have been implicated in early onset of ocular pathologies, including premature/congenital cataract development. The aim of the present study was to analyze probands of consanguineous Pakistani cataract families to identify the novel pathogenic variants in the BMAL1 gene. We have studied 21 congenital cataract families. Ophthalmic examination was performed for the probands and available family members. Genomic DNA was isolated from peripheral blood. PCR and Sanger sequencing was performed for the entire coding region of the BMAL1 gene. Targeted Sanger sequencing of BMAL1 revealed a heterozygous variant c.41A>T; p.(Asp14Val) in one proband, but it did not co-segregate with the disease phenotype in the family. In addition, a nonsynonymous variant (rs2290037) was identified in five probands. Our study is the first one to analyze the role of BMAL1 gene mutations in humans for their association with congenital cataract. Although we were unable to find the variants associated with congenital cataract families from Pakistan, more studies from other populations will be informative to further prove the role of BMAL1 with the disease." @default.
- W2893684687 created "2018-10-05" @default.
- W2893684687 creator A5030560740 @default.
- W2893684687 creator A5037218043 @default.
- W2893684687 creator A5046701227 @default.
- W2893684687 creator A5061330584 @default.
- W2893684687 creator A5077783321 @default.
- W2893684687 creator A5087590583 @default.
- W2893684687 date "2018-08-06" @default.
- W2893684687 modified "2023-09-26" @default.
- W2893684687 title "Analysis of Circadian Clock Gene <em>BMAL1</em> in Pakistani Congenital Cataract Families" @default.
- W2893684687 doi "https://doi.org/10.20944/preprints201808.0108.v1" @default.
- W2893684687 hasPublicationYear "2018" @default.
- W2893684687 type Work @default.
- W2893684687 sameAs 2893684687 @default.
- W2893684687 citedByCount "0" @default.
- W2893684687 crossrefType "posted-content" @default.
- W2893684687 hasAuthorship W2893684687A5030560740 @default.
- W2893684687 hasAuthorship W2893684687A5037218043 @default.
- W2893684687 hasAuthorship W2893684687A5046701227 @default.
- W2893684687 hasAuthorship W2893684687A5061330584 @default.
- W2893684687 hasAuthorship W2893684687A5077783321 @default.
- W2893684687 hasAuthorship W2893684687A5087590583 @default.
- W2893684687 hasBestOaLocation W28936846871 @default.
- W2893684687 hasConcept C104317684 @default.
- W2893684687 hasConcept C121446783 @default.
- W2893684687 hasConcept C134018914 @default.
- W2893684687 hasConcept C38606739 @default.
- W2893684687 hasConcept C54355233 @default.
- W2893684687 hasConcept C71924100 @default.
- W2893684687 hasConcept C86803240 @default.
- W2893684687 hasConceptScore W2893684687C104317684 @default.
- W2893684687 hasConceptScore W2893684687C121446783 @default.
- W2893684687 hasConceptScore W2893684687C134018914 @default.
- W2893684687 hasConceptScore W2893684687C38606739 @default.
- W2893684687 hasConceptScore W2893684687C54355233 @default.
- W2893684687 hasConceptScore W2893684687C71924100 @default.
- W2893684687 hasConceptScore W2893684687C86803240 @default.
- W2893684687 hasLocation W28936846871 @default.
- W2893684687 hasOpenAccess W2893684687 @default.
- W2893684687 hasPrimaryLocation W28936846871 @default.
- W2893684687 hasRelatedWork W134170438 @default.
- W2893684687 hasRelatedWork W1887864442 @default.
- W2893684687 hasRelatedWork W2588762410 @default.
- W2893684687 hasRelatedWork W2899433246 @default.
- W2893684687 hasRelatedWork W2906199903 @default.
- W2893684687 hasRelatedWork W3192411583 @default.
- W2893684687 hasRelatedWork W3206292585 @default.
- W2893684687 hasRelatedWork W3213185611 @default.
- W2893684687 isParatext "false" @default.
- W2893684687 isRetracted "false" @default.
- W2893684687 magId "2893684687" @default.
- W2893684687 workType "article" @default.