Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308954844> ?p ?o ?g. }
- W4308954844 endingPage "357" @default.
- W4308954844 startingPage "352" @default.
- W4308954844 abstract "Ovarian dysfunction, including premature ovarian insufficiency and decreased ovarian reserve, affects the ovarian reserve and is one of the leading causes of female infertility. More and more cases of ovarian dysfunction are associated with genetic factors. Here, we identified eight potential variants in five genes (MSH4, HFM1, SYCE1, FSHR, and C14orf39) from six independent families by exome sequencing. The splice-site variants in SYCE1 and MSH4 affected canonical splicing isoforms, leading to missing protein domains or premature termination. Our findings expand the mutational spectrum of ovarian dysfunction and provide potential biomarkers for future genetic counseling and for more personalized treatments. Exome sequencing was shown to be a useful tool to better dissect the genetic basis for ovarian dysfunction and yielded a genetic diagnosis in about 5.0% (6/124) of cases in a cohort of 124 patients with ovarian dysfunction." @default.
- W4308954844 created "2022-11-20" @default.
- W4308954844 creator A5006031215 @default.
- W4308954844 creator A5010119797 @default.
- W4308954844 creator A5011278327 @default.
- W4308954844 creator A5017431965 @default.
- W4308954844 creator A5021672255 @default.
- W4308954844 creator A5048770158 @default.
- W4308954844 creator A5051284290 @default.
- W4308954844 creator A5051643079 @default.
- W4308954844 creator A5056935851 @default.
- W4308954844 creator A5058965019 @default.
- W4308954844 creator A5062481008 @default.
- W4308954844 creator A5062940034 @default.
- W4308954844 creator A5067770953 @default.
- W4308954844 creator A5067804812 @default.
- W4308954844 creator A5083489326 @default.
- W4308954844 date "2022-11-22" @default.
- W4308954844 modified "2023-10-16" @default.
- W4308954844 title "Genetic screening in patients with ovarian dysfunction" @default.
- W4308954844 cites W1521818025 @default.
- W4308954844 cites W1969664012 @default.
- W4308954844 cites W2005271852 @default.
- W4308954844 cites W2023700448 @default.
- W4308954844 cites W2058254027 @default.
- W4308954844 cites W2093186383 @default.
- W4308954844 cites W2213837856 @default.
- W4308954844 cites W2309700868 @default.
- W4308954844 cites W2460175069 @default.
- W4308954844 cites W2761960668 @default.
- W4308954844 cites W2995001386 @default.
- W4308954844 cites W3044633032 @default.
- W4308954844 cites W3082288265 @default.
- W4308954844 cites W3123051249 @default.
- W4308954844 cites W3209109372 @default.
- W4308954844 doi "https://doi.org/10.1111/cge.14267" @default.
- W4308954844 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36373164" @default.
- W4308954844 hasPublicationYear "2022" @default.
- W4308954844 type Work @default.
- W4308954844 citedByCount "0" @default.
- W4308954844 crossrefType "journal-article" @default.
- W4308954844 hasAuthorship W4308954844A5006031215 @default.
- W4308954844 hasAuthorship W4308954844A5010119797 @default.
- W4308954844 hasAuthorship W4308954844A5011278327 @default.
- W4308954844 hasAuthorship W4308954844A5017431965 @default.
- W4308954844 hasAuthorship W4308954844A5021672255 @default.
- W4308954844 hasAuthorship W4308954844A5048770158 @default.
- W4308954844 hasAuthorship W4308954844A5051284290 @default.
- W4308954844 hasAuthorship W4308954844A5051643079 @default.
- W4308954844 hasAuthorship W4308954844A5056935851 @default.
- W4308954844 hasAuthorship W4308954844A5058965019 @default.
- W4308954844 hasAuthorship W4308954844A5062481008 @default.
- W4308954844 hasAuthorship W4308954844A5062940034 @default.
- W4308954844 hasAuthorship W4308954844A5067770953 @default.
- W4308954844 hasAuthorship W4308954844A5067804812 @default.
- W4308954844 hasAuthorship W4308954844A5083489326 @default.
- W4308954844 hasConcept C104317684 @default.
- W4308954844 hasConcept C10590036 @default.
- W4308954844 hasConcept C126322002 @default.
- W4308954844 hasConcept C134018914 @default.
- W4308954844 hasConcept C16671776 @default.
- W4308954844 hasConcept C2776600139 @default.
- W4308954844 hasConcept C2777395788 @default.
- W4308954844 hasConcept C2777688143 @default.
- W4308954844 hasConcept C2779234561 @default.
- W4308954844 hasConcept C2780673598 @default.
- W4308954844 hasConcept C501734568 @default.
- W4308954844 hasConcept C54355233 @default.
- W4308954844 hasConcept C60644358 @default.
- W4308954844 hasConcept C71924100 @default.
- W4308954844 hasConcept C80227256 @default.
- W4308954844 hasConcept C86803240 @default.
- W4308954844 hasConceptScore W4308954844C104317684 @default.
- W4308954844 hasConceptScore W4308954844C10590036 @default.
- W4308954844 hasConceptScore W4308954844C126322002 @default.
- W4308954844 hasConceptScore W4308954844C134018914 @default.
- W4308954844 hasConceptScore W4308954844C16671776 @default.
- W4308954844 hasConceptScore W4308954844C2776600139 @default.
- W4308954844 hasConceptScore W4308954844C2777395788 @default.
- W4308954844 hasConceptScore W4308954844C2777688143 @default.
- W4308954844 hasConceptScore W4308954844C2779234561 @default.
- W4308954844 hasConceptScore W4308954844C2780673598 @default.
- W4308954844 hasConceptScore W4308954844C501734568 @default.
- W4308954844 hasConceptScore W4308954844C54355233 @default.
- W4308954844 hasConceptScore W4308954844C60644358 @default.
- W4308954844 hasConceptScore W4308954844C71924100 @default.
- W4308954844 hasConceptScore W4308954844C80227256 @default.
- W4308954844 hasConceptScore W4308954844C86803240 @default.
- W4308954844 hasFunder F4320309612 @default.
- W4308954844 hasFunder F4320321001 @default.
- W4308954844 hasIssue "3" @default.
- W4308954844 hasLocation W43089548441 @default.
- W4308954844 hasLocation W43089548442 @default.
- W4308954844 hasOpenAccess W4308954844 @default.
- W4308954844 hasPrimaryLocation W43089548441 @default.
- W4308954844 hasRelatedWork W2523591271 @default.
- W4308954844 hasRelatedWork W2790629632 @default.
- W4308954844 hasRelatedWork W2920090572 @default.