Matches in SemOpenAlex for { <https://semopenalex.org/work/W4225533669> ?p ?o ?g. }
- W4225533669 endingPage "1215" @default.
- W4225533669 startingPage "1205" @default.
- W4225533669 abstract "The aim of this study was to identify the disease-causing mutations found in three infertile female patients who were diagnosed with abnormal zona pellucida (ZP) and empty follicle syndrome (EFS).We performed whole-exome sequencing and Sanger sequencing to identify and verify the disease-causing mutations. Additionally, we performed Western blotting and mini-gene splicing assay to assess the effects of the mutations.We identified two novel compound heterozygous mutations in the ZP2 gene, a patient with an abnormal ZP carrying a novel compound heterozygous mutation (c.1695-2A>G and c.1831G>T, p.V611F) and a patient with EFS carrying a novel compound heterozygous mutation (c.1695-2A>G and c.1924 C>T, p.R642*). Furthermore, we identified a patient with typical abnormal ZP carrying a novel heterozygous mutation (c.400G>T, p.A134S) in the ZP3 gene. The splice site mutation (c.1695-2A>G) can cause abnormal pre-mRNA splicing that inserts an extra sequence of 61 bp in the mRNA of ZP2, and the missense mutation (c.1831G>T) can cause a decrease of ZP2 protein in HEK293 cells.We identified three novel mutations in the ZP2 gene and the ZP3 gene in three Chinese female patients with infertility. Our study expands the spectrum of ZP gene mutations and phenotypes and thus is beneficial in the genetic diagnosis of infertility in females." @default.
- W4225533669 created "2022-05-05" @default.
- W4225533669 creator A5001600433 @default.
- W4225533669 creator A5003826922 @default.
- W4225533669 creator A5022447242 @default.
- W4225533669 creator A5038068859 @default.
- W4225533669 creator A5049520457 @default.
- W4225533669 creator A5053116716 @default.
- W4225533669 creator A5057803101 @default.
- W4225533669 creator A5064548792 @default.
- W4225533669 creator A5071738756 @default.
- W4225533669 creator A5078321922 @default.
- W4225533669 creator A5084541609 @default.
- W4225533669 date "2022-04-03" @default.
- W4225533669 modified "2023-10-04" @default.
- W4225533669 title "Novel mutations in ZP2 and ZP3 cause female infertility in three patients" @default.
- W4225533669 cites W1794113482 @default.
- W4225533669 cites W1981898395 @default.
- W4225533669 cites W2082827470 @default.
- W4225533669 cites W2105204151 @default.
- W4225533669 cites W2113196703 @default.
- W4225533669 cites W2157920066 @default.
- W4225533669 cites W2159902645 @default.
- W4225533669 cites W2163116586 @default.
- W4225533669 cites W2166173743 @default.
- W4225533669 cites W2244166575 @default.
- W4225533669 cites W2416248559 @default.
- W4225533669 cites W2618576980 @default.
- W4225533669 cites W2640706551 @default.
- W4225533669 cites W2739504526 @default.
- W4225533669 cites W2753536711 @default.
- W4225533669 cites W2762766097 @default.
- W4225533669 cites W2765928886 @default.
- W4225533669 cites W2792364159 @default.
- W4225533669 cites W2807711110 @default.
- W4225533669 cites W2915965313 @default.
- W4225533669 cites W2916229347 @default.
- W4225533669 cites W2957321430 @default.
- W4225533669 cites W2986267076 @default.
- W4225533669 cites W3014068514 @default.
- W4225533669 cites W3015169573 @default.
- W4225533669 cites W3018481174 @default.
- W4225533669 cites W3036743203 @default.
- W4225533669 cites W3036867216 @default.
- W4225533669 cites W3037194326 @default.
- W4225533669 cites W3080613638 @default.
- W4225533669 cites W3081442610 @default.
- W4225533669 cites W3094103259 @default.
- W4225533669 cites W3095670676 @default.
- W4225533669 cites W3106903498 @default.
- W4225533669 cites W3122750383 @default.
- W4225533669 cites W3131867671 @default.
- W4225533669 cites W3132126917 @default.
- W4225533669 cites W3134325978 @default.
- W4225533669 cites W3136522663 @default.
- W4225533669 cites W3159976661 @default.
- W4225533669 cites W3198550509 @default.
- W4225533669 doi "https://doi.org/10.1007/s10815-022-02466-4" @default.
- W4225533669 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35366744" @default.
- W4225533669 hasPublicationYear "2022" @default.
- W4225533669 type Work @default.
- W4225533669 citedByCount "1" @default.
- W4225533669 countsByYear W42255336692022 @default.
- W4225533669 crossrefType "journal-article" @default.
- W4225533669 hasAuthorship W4225533669A5001600433 @default.
- W4225533669 hasAuthorship W4225533669A5003826922 @default.
- W4225533669 hasAuthorship W4225533669A5022447242 @default.
- W4225533669 hasAuthorship W4225533669A5038068859 @default.
- W4225533669 hasAuthorship W4225533669A5049520457 @default.
- W4225533669 hasAuthorship W4225533669A5053116716 @default.
- W4225533669 hasAuthorship W4225533669A5057803101 @default.
- W4225533669 hasAuthorship W4225533669A5064548792 @default.
- W4225533669 hasAuthorship W4225533669A5071738756 @default.
- W4225533669 hasAuthorship W4225533669A5078321922 @default.
- W4225533669 hasAuthorship W4225533669A5084541609 @default.
- W4225533669 hasBestOaLocation W42255336692 @default.
- W4225533669 hasConcept C104317684 @default.
- W4225533669 hasConcept C12125453 @default.
- W4225533669 hasConcept C153911025 @default.
- W4225533669 hasConcept C16671776 @default.
- W4225533669 hasConcept C194583182 @default.
- W4225533669 hasConcept C2777688143 @default.
- W4225533669 hasConcept C2779234561 @default.
- W4225533669 hasConcept C36823959 @default.
- W4225533669 hasConcept C501734568 @default.
- W4225533669 hasConcept C54355233 @default.
- W4225533669 hasConcept C62257209 @default.
- W4225533669 hasConcept C75563809 @default.
- W4225533669 hasConcept C76818968 @default.
- W4225533669 hasConcept C86803240 @default.
- W4225533669 hasConceptScore W4225533669C104317684 @default.
- W4225533669 hasConceptScore W4225533669C12125453 @default.
- W4225533669 hasConceptScore W4225533669C153911025 @default.
- W4225533669 hasConceptScore W4225533669C16671776 @default.
- W4225533669 hasConceptScore W4225533669C194583182 @default.
- W4225533669 hasConceptScore W4225533669C2777688143 @default.
- W4225533669 hasConceptScore W4225533669C2779234561 @default.
- W4225533669 hasConceptScore W4225533669C36823959 @default.