FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308491282> ?p ?o ?g. }

• W4308491282 endingPage "139" @default.
• W4308491282 startingPage "132" @default.
• W4308491282 abstract "Variations in many genes may lead to the occurrence of oocyte maturation defectsand female infertility. The objective was to describe newly discovered mutations in TUBB8 and ZP3, and to characterise the accompanying spectrum of phenotypes and modes of inheritance.TUBB8 and ZP3 were sequenced from genomic DNA samples extracted from peripheral blood of patients and their family members by the whole-exome sequencing. The TUBB8 and ZP3 sequences are then aligned with cryptographic software to identify rare variations. Sanger sequencing and mass spectrometry were used to validate mutations. ExAC database was used to retrieve the frequency of corresponding mutations. PolyPhen-2 and PROVEAN were analyzed for mutations using silicon.We identified Three novel mutations and two known variant in TUBB8 and ZP3 associated with maturation in five families, and fertilization and developmental arrest are in these patients. These mutations include four heterozygous mutations in TUBB8 (c.730G > A, p.Gly244Ser, c.124C > G, p.Leu42Val, c.1172G > T, p.Arg391Leu and c.178G > A, p.Val60Met), and a heterozygous mutation in ZP3 (c.400G > A, p.Ala134Thr). Among them, these variants of TUBB8 were highly conserved among primates.As far as we know, the TUBB8 mutations detected in our study at four sites have not been reported before, and the variant of ZP3 has been published as pathogenic. Our findings extend the known mutant spectrum of TUBB8 and ZP3, and provide insights into the etiology of infertility in human women. The exact molecular mechanism has not been analyzed and should be further investigated in the future." @default.
• W4308491282 created "2022-11-12" @default.
• W4308491282 creator A5007803202 @default.
• W4308491282 creator A5012486505 @default.
• W4308491282 creator A5014942240 @default.
• W4308491282 creator A5028504955 @default.
• W4308491282 creator A5084943999 @default.
• W4308491282 creator A5086159352 @default.
• W4308491282 date "2022-12-01" @default.
• W4308491282 modified "2023-09-30" @default.
• W4308491282 title "Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility" @default.
• W4308491282 cites W1981898395 @default.
• W4308491282 cites W1991367092 @default.
• W4308491282 cites W2034306272 @default.
• W4308491282 cites W2039772754 @default.
• W4308491282 cites W2040392785 @default.
• W4308491282 cites W2051978340 @default.
• W4308491282 cites W2059145105 @default.
• W4308491282 cites W2066851999 @default.
• W4308491282 cites W2079194758 @default.
• W4308491282 cites W2084172300 @default.
• W4308491282 cites W2087674181 @default.
• W4308491282 cites W2103441770 @default.
• W4308491282 cites W2109948781 @default.
• W4308491282 cites W2126237969 @default.
• W4308491282 cites W2268363765 @default.
• W4308491282 cites W2286320598 @default.
• W4308491282 cites W2412952291 @default.
• W4308491282 cites W2466238181 @default.
• W4308491282 cites W2565223955 @default.
• W4308491282 cites W2618576980 @default.
• W4308491282 cites W2626733072 @default.
• W4308491282 cites W2759790163 @default.
• W4308491282 cites W2759849770 @default.
• W4308491282 cites W2795137931 @default.
• W4308491282 cites W2800181253 @default.
• W4308491282 cites W2807668724 @default.
• W4308491282 cites W2896582469 @default.
• W4308491282 cites W2915965313 @default.
• W4308491282 cites W2916229347 @default.
• W4308491282 cites W2924570474 @default.
• W4308491282 cites W2957321430 @default.
• W4308491282 cites W2984333713 @default.
• W4308491282 cites W3016987017 @default.
• W4308491282 cites W3018481174 @default.
• W4308491282 cites W3031226863 @default.
• W4308491282 cites W3033171549 @default.
• W4308491282 cites W3033485829 @default.
• W4308491282 cites W3081442610 @default.
• W4308491282 cites W3087686402 @default.
• W4308491282 cites W3134520573 @default.
• W4308491282 cites W3156609093 @default.
• W4308491282 cites W4247053599 @default.
• W4308491282 doi "https://doi.org/10.1016/j.ejogrb.2022.10.017" @default.
• W4308491282 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36335766" @default.
• W4308491282 hasPublicationYear "2022" @default.
• W4308491282 type Work @default.
• W4308491282 citedByCount "1" @default.
• W4308491282 countsByYear W43084912822023 @default.
• W4308491282 crossrefType "journal-article" @default.
• W4308491282 hasAuthorship W4308491282A5007803202 @default.
• W4308491282 hasAuthorship W4308491282A5012486505 @default.
• W4308491282 hasAuthorship W4308491282A5014942240 @default.
• W4308491282 hasAuthorship W4308491282A5028504955 @default.
• W4308491282 hasAuthorship W4308491282A5084943999 @default.
• W4308491282 hasAuthorship W4308491282A5086159352 @default.
• W4308491282 hasConcept C104317684 @default.
• W4308491282 hasConcept C10590036 @default.
• W4308491282 hasConcept C120821319 @default.
• W4308491282 hasConcept C127716648 @default.
• W4308491282 hasConcept C141231307 @default.
• W4308491282 hasConcept C16671776 @default.
• W4308491282 hasConcept C188997412 @default.
• W4308491282 hasConcept C2777338322 @default.
• W4308491282 hasConcept C2777688143 @default.
• W4308491282 hasConcept C2779234561 @default.
• W4308491282 hasConcept C501734568 @default.
• W4308491282 hasConcept C54355233 @default.
• W4308491282 hasConcept C76818968 @default.
• W4308491282 hasConcept C86803240 @default.
• W4308491282 hasConceptScore W4308491282C104317684 @default.
• W4308491282 hasConceptScore W4308491282C10590036 @default.
• W4308491282 hasConceptScore W4308491282C120821319 @default.
• W4308491282 hasConceptScore W4308491282C127716648 @default.
• W4308491282 hasConceptScore W4308491282C141231307 @default.
• W4308491282 hasConceptScore W4308491282C16671776 @default.
• W4308491282 hasConceptScore W4308491282C188997412 @default.
• W4308491282 hasConceptScore W4308491282C2777338322 @default.
• W4308491282 hasConceptScore W4308491282C2777688143 @default.
• W4308491282 hasConceptScore W4308491282C2779234561 @default.
• W4308491282 hasConceptScore W4308491282C501734568 @default.
• W4308491282 hasConceptScore W4308491282C54355233 @default.
• W4308491282 hasConceptScore W4308491282C76818968 @default.
• W4308491282 hasConceptScore W4308491282C86803240 @default.
• W4308491282 hasLocation W43084912821 @default.
• W4308491282 hasLocation W43084912822 @default.
• W4308491282 hasOpenAccess W4308491282 @default.
• W4308491282 hasPrimaryLocation W43084912821 @default.

• next