Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149543418> ?p ?o ?g. }
- W2149543418 endingPage "R248" @default.
- W2149543418 startingPage "R235" @default.
- W2149543418 abstract "FSH brings about its physiological actions by activating a specific receptor located on target cells. Normal functioning of the FSH receptor (FSHR) is crucial for follicular development and estradiol production in females and for the regulation of Sertoli cell function and spermatogenesis in males. In the last two decades, the number of inactivating and activating mutations, single nucleotide polymorphisms, and spliced variants of FSHR gene has been identified in selected infertile cases. Information on genotype–phenotype correlation and in vitro functional characterization of the mutants has helped in understanding the possible genetic cause for female infertility in affected individuals. The information is also being used to dissect various extracellular and intracellular events involved in hormone–receptor interaction by studying the differences in the properties of the mutant receptor when compared with WT receptor. Studies on polymorphisms in the FSHR gene have shown variability in clinical outcome among women treated with FSH. These observations are being explored to develop molecular markers to predict the optimum dose of FSH required for controlled ovarian hyperstimulation. Pharmacogenetics is an emerging field in this area that aims at designing individual treatment protocols for reproductive abnormalities based on FSHR gene polymorphisms. The present review discusses the current knowledge of various genetic alterations in FSHR and their impact on receptor function in the female reproductive system." @default.
- W2149543418 created "2016-06-24" @default.
- W2149543418 creator A5014714485 @default.
- W2149543418 creator A5030727895 @default.
- W2149543418 creator A5034101972 @default.
- W2149543418 date "2013-12-01" @default.
- W2149543418 modified "2023-09-25" @default.
- W2149543418 title "Mutations and polymorphisms in FSH receptor: functional implications in human reproduction" @default.
- W2149543418 cites W1966641058 @default.
- W2149543418 cites W1966819282 @default.
- W2149543418 cites W1967581926 @default.
- W2149543418 cites W1967830055 @default.
- W2149543418 cites W1968144281 @default.
- W2149543418 cites W1970586482 @default.
- W2149543418 cites W1984488339 @default.
- W2149543418 cites W1989647946 @default.
- W2149543418 cites W1990037728 @default.
- W2149543418 cites W1991845345 @default.
- W2149543418 cites W1992547812 @default.
- W2149543418 cites W1996555504 @default.
- W2149543418 cites W1997336128 @default.
- W2149543418 cites W1997539759 @default.
- W2149543418 cites W2004082379 @default.
- W2149543418 cites W2005271852 @default.
- W2149543418 cites W2006338836 @default.
- W2149543418 cites W2008582233 @default.
- W2149543418 cites W2026005641 @default.
- W2149543418 cites W2031192188 @default.
- W2149543418 cites W2033116957 @default.
- W2149543418 cites W2035326983 @default.
- W2149543418 cites W2036373195 @default.
- W2149543418 cites W2038287727 @default.
- W2149543418 cites W2047284162 @default.
- W2149543418 cites W2048662852 @default.
- W2149543418 cites W2049841046 @default.
- W2149543418 cites W2050527917 @default.
- W2149543418 cites W2053365651 @default.
- W2149543418 cites W2055676771 @default.
- W2149543418 cites W2055757515 @default.
- W2149543418 cites W2055842954 @default.
- W2149543418 cites W2059665365 @default.
- W2149543418 cites W2061434067 @default.
- W2149543418 cites W2063535530 @default.
- W2149543418 cites W2068793312 @default.
- W2149543418 cites W2074191544 @default.
- W2149543418 cites W2077260934 @default.
- W2149543418 cites W2078345714 @default.
- W2149543418 cites W2080574258 @default.
- W2149543418 cites W2082953076 @default.
- W2149543418 cites W2087185329 @default.
- W2149543418 cites W2090423690 @default.
- W2149543418 cites W2091194437 @default.
- W2149543418 cites W2092224562 @default.
- W2149543418 cites W2093597184 @default.
- W2149543418 cites W2096634782 @default.
- W2149543418 cites W2099972277 @default.
- W2149543418 cites W2104282216 @default.
- W2149543418 cites W2105800458 @default.
- W2149543418 cites W2106205257 @default.
- W2149543418 cites W2108264404 @default.
- W2149543418 cites W2109621695 @default.
- W2149543418 cites W2109814745 @default.
- W2149543418 cites W2111418227 @default.
- W2149543418 cites W2115292124 @default.
- W2149543418 cites W2116833823 @default.
- W2149543418 cites W2120186479 @default.
- W2149543418 cites W2120228732 @default.
- W2149543418 cites W2120451221 @default.
- W2149543418 cites W2122967721 @default.
- W2149543418 cites W2123258613 @default.
- W2149543418 cites W2124532120 @default.
- W2149543418 cites W2128038771 @default.
- W2149543418 cites W2129991786 @default.
- W2149543418 cites W2130826896 @default.
- W2149543418 cites W2132058254 @default.
- W2149543418 cites W2132352019 @default.
- W2149543418 cites W2137588110 @default.
- W2149543418 cites W2138346371 @default.
- W2149543418 cites W2138564327 @default.
- W2149543418 cites W2144324439 @default.
- W2149543418 cites W2144594355 @default.
- W2149543418 cites W2154910006 @default.
- W2149543418 cites W2157999278 @default.
- W2149543418 cites W2169919403 @default.
- W2149543418 cites W2172083032 @default.
- W2149543418 cites W4238623289 @default.
- W2149543418 cites W4239760990 @default.
- W2149543418 cites W4247518484 @default.
- W2149543418 cites W4250353237 @default.
- W2149543418 cites W4255477987 @default.
- W2149543418 cites W4255677315 @default.
- W2149543418 doi "https://doi.org/10.1530/rep-13-0351" @default.
- W2149543418 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24051057" @default.
- W2149543418 hasPublicationYear "2013" @default.
- W2149543418 type Work @default.
- W2149543418 sameAs 2149543418 @default.
- W2149543418 citedByCount "96" @default.
- W2149543418 countsByYear W21495434182014 @default.