Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387163946> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W4387163946 endingPage "7" @default.
- W4387163946 startingPage "7" @default.
- W4387163946 abstract "Objectives: In human, olfactory receptor (ORs) gene polymorphism regulate testicular development and physiological functions during spermatogenesis. However, the etiopathology of OR gene in male infertility is still restricted that required further studies. Basic mechanism involves the identification of peripheral signals based on specific chemoreceptors site that are expressed on the surface of mature spermatozoa inside the female reproductive tract. These receptors belong to G-protein couple receptors (GPCR) of superfamily and the roles of ORs gene linked to sperm chemotaxis through chemokinesis. In the present study, we have studied the role of Olfactory receptor family 2 subfamilies AT member 4 (OR2AT4) and Olfactory receptor family 9 subfamily G member 1/9 (OR9G1/9) genes polymorphism in clinically diagnosed azoospermic patients. Materials and Methods: Systematically, GTG banded karyotypes were developed using short term lymphocyte cultures, fluorescence in situ hybridization using SRY probe and PCR based microdeletion of Y-chromosome was characterized using STS marker (SY255). Whole exome sequencing (WES) based analysis was performed in azoospermic patients to identify the involvement of de-novo mutation in OR2AT4 and OR9G1/OR9G9 genes mutation followed by bioinformatics tools used for the analysis to identify changes in respective amino acids. Results: OR2AT4 showing missense mutation after substitution of nucleotide (G→A) followed by lack of change in amino acid (Gln→Gln), but in OR9G1/G9 gene showing changes of substitution of nucleotide thymidine into adenine (T→A), whereas valine is replaced by glutamine (Val→ Glu), similarly thymidine is substituted by cysteine (T→C), after decode phenylalanine is replaced by leucine (Phe→Leu). Further, 3D protein helical structure was developed with the help of bioinformatics on the basis of amino acids coded protein and compare with mutated amino acid or truncated protein residues with the help of iTASSER server. Conclusion: Present study demonstrate the role of OR2AT4 and OR9G1/9 gene polymorphism elucidates the functional role of protamine in ectopic receptors followed by increasing “risk” of developing male infertility that leads the clinical condition defined as non-obstructive azoospermia." @default.
- W4387163946 created "2023-09-30" @default.
- W4387163946 creator A5019131029 @default.
- W4387163946 creator A5019642032 @default.
- W4387163946 creator A5062516972 @default.
- W4387163946 creator A5072140760 @default.
- W4387163946 date "2023-09-29" @default.
- W4387163946 modified "2023-10-03" @default.
- W4387163946 title "Penetrance of missense mutation of OR2AT4 and OR9G1/9 gene polymorphism increases risk factor in azoospermic patients" @default.
- W4387163946 cites W1483715699 @default.
- W4387163946 cites W1599277155 @default.
- W4387163946 cites W1818971580 @default.
- W4387163946 cites W1990374554 @default.
- W4387163946 cites W2021082765 @default.
- W4387163946 cites W2024410728 @default.
- W4387163946 cites W2047458612 @default.
- W4387163946 cites W2066390245 @default.
- W4387163946 cites W2082149911 @default.
- W4387163946 cites W2094458603 @default.
- W4387163946 cites W2123016609 @default.
- W4387163946 cites W2139677474 @default.
- W4387163946 cites W2155088613 @default.
- W4387163946 cites W2159361322 @default.
- W4387163946 cites W2159902645 @default.
- W4387163946 cites W2258645267 @default.
- W4387163946 cites W2329016542 @default.
- W4387163946 cites W2955348865 @default.
- W4387163946 cites W4255760236 @default.
- W4387163946 doi "https://doi.org/10.25259/jrhm_2_2023" @default.
- W4387163946 hasPublicationYear "2023" @default.
- W4387163946 type Work @default.
- W4387163946 citedByCount "0" @default.
- W4387163946 crossrefType "journal-article" @default.
- W4387163946 hasAuthorship W4387163946A5019131029 @default.
- W4387163946 hasAuthorship W4387163946A5019642032 @default.
- W4387163946 hasAuthorship W4387163946A5062516972 @default.
- W4387163946 hasAuthorship W4387163946A5072140760 @default.
- W4387163946 hasConcept C104317684 @default.
- W4387163946 hasConcept C135763542 @default.
- W4387163946 hasConcept C153209595 @default.
- W4387163946 hasConcept C153911025 @default.
- W4387163946 hasConcept C501734568 @default.
- W4387163946 hasConcept C54355233 @default.
- W4387163946 hasConcept C75563809 @default.
- W4387163946 hasConcept C86803240 @default.
- W4387163946 hasConceptScore W4387163946C104317684 @default.
- W4387163946 hasConceptScore W4387163946C135763542 @default.
- W4387163946 hasConceptScore W4387163946C153209595 @default.
- W4387163946 hasConceptScore W4387163946C153911025 @default.
- W4387163946 hasConceptScore W4387163946C501734568 @default.
- W4387163946 hasConceptScore W4387163946C54355233 @default.
- W4387163946 hasConceptScore W4387163946C75563809 @default.
- W4387163946 hasConceptScore W4387163946C86803240 @default.
- W4387163946 hasLocation W43871639461 @default.
- W4387163946 hasOpenAccess W4387163946 @default.
- W4387163946 hasPrimaryLocation W43871639461 @default.
- W4387163946 hasRelatedWork W1851998043 @default.
- W4387163946 hasRelatedWork W1979176079 @default.
- W4387163946 hasRelatedWork W2031464773 @default.
- W4387163946 hasRelatedWork W2349400098 @default.
- W4387163946 hasRelatedWork W2350102540 @default.
- W4387163946 hasRelatedWork W2362650105 @default.
- W4387163946 hasRelatedWork W2931132270 @default.
- W4387163946 hasRelatedWork W2997189992 @default.
- W4387163946 hasRelatedWork W3024306633 @default.
- W4387163946 hasRelatedWork W3025009704 @default.
- W4387163946 hasVolume "4" @default.
- W4387163946 isParatext "false" @default.
- W4387163946 isRetracted "false" @default.
- W4387163946 workType "article" @default.