FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2178744117> ?p ?o ?g. }

• W2178744117 endingPage "76" @default.
• W2178744117 startingPage "62" @default.
• W2178744117 abstract "Abstract We demonstrate 2 novel mutations of the LHCGR, each homozygous, in a 46,XY patient with severe Leydig cell hypoplasia. One is a mutation in the signal peptide (p.Gln18_Leu19ins9; referred to here as SP) that results in an alteration of the coding sequence of the N terminus of the mature mutant receptor. The other mutation (p.G71R) is also within the ectodomain. Similar to many other inactivating mutations, the cell surface expression of recombinant human LHR(SP,G71R) is greatly reduced due to intracellular retention. However, we made the unusual discovery that the intrinsic efficacy for agonist-stimulated cAMP in the reduced numbers of receptors on the cell surface was greatly increased relative to the same low number of cell surface wild-type receptor. Remarkably, this appears to be a general attribute of misfolding mutations in the ectodomains, but not serpentine domains, of the gonadotropin receptors. These findings suggest that there must be a common, shared mechanism by which disparate mutations in the ectodomain that cause misfolding and therefore reduced cell surface expression concomitantly confer increased agonist efficacy to those receptor mutants on the cell surface. Our data further suggest that, due to their increased agonist efficacy, extremely small changes in cell surface expression of misfolded ectodomain mutants cause larger than expected alterations in the cellular response to agonist. Therefore, for inactivating LHCGR mutations causing ectodomain misfolding, the numbers of cell surface mutant receptors on fetal Leydig cells of 46,XY individuals exert a more exquisite effect on the relative severity of the clinical phenotypes than already appreciated." @default.
• W2178744117 created "2016-06-24" @default.
• W2178744117 creator A5004520766 @default.
• W2178744117 creator A5018176645 @default.
• W2178744117 creator A5027691538 @default.
• W2178744117 creator A5035015014 @default.
• W2178744117 creator A5054555283 @default.
• W2178744117 creator A5070044782 @default.
• W2178744117 creator A5075213795 @default.
• W2178744117 creator A5075930640 @default.
• W2178744117 creator A5080216648 @default.
• W2178744117 date "2016-01-01" @default.
• W2178744117 modified "2023-09-30" @default.
• W2178744117 title "Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation" @default.
• W2178744117 cites W1484359085 @default.
• W2178744117 cites W1560681487 @default.
• W2178744117 cites W1601065938 @default.
• W2178744117 cites W1964258810 @default.
• W2178744117 cites W1966623108 @default.
• W2178744117 cites W1967581926 @default.
• W2178744117 cites W1970375638 @default.
• W2178744117 cites W1970443640 @default.
• W2178744117 cites W1977633138 @default.
• W2178744117 cites W1978167732 @default.
• W2178744117 cites W1984736943 @default.
• W2178744117 cites W1986447682 @default.
• W2178744117 cites W1998726734 @default.
• W2178744117 cites W2004330624 @default.
• W2178744117 cites W2005678694 @default.
• W2178744117 cites W2013087877 @default.
• W2178744117 cites W2016844184 @default.
• W2178744117 cites W2017593103 @default.
• W2178744117 cites W2021294213 @default.
• W2178744117 cites W2022626941 @default.
• W2178744117 cites W2024292538 @default.
• W2178744117 cites W2039079134 @default.
• W2178744117 cites W2039261978 @default.
• W2178744117 cites W2044060429 @default.
• W2178744117 cites W2044285240 @default.
• W2178744117 cites W2046409929 @default.
• W2178744117 cites W2047291465 @default.
• W2178744117 cites W2047517608 @default.
• W2178744117 cites W2050522249 @default.
• W2178744117 cites W2050527917 @default.
• W2178744117 cites W2053912544 @default.
• W2178744117 cites W2055591390 @default.
• W2178744117 cites W2059922033 @default.
• W2178744117 cites W2062635993 @default.
• W2178744117 cites W2063371064 @default.
• W2178744117 cites W2066964651 @default.
• W2178744117 cites W2071129811 @default.
• W2178744117 cites W2072854967 @default.
• W2178744117 cites W2073083917 @default.
• W2178744117 cites W2073654245 @default.
• W2178744117 cites W2074537257 @default.
• W2178744117 cites W2081357942 @default.
• W2178744117 cites W2082991065 @default.
• W2178744117 cites W2087215236 @default.
• W2178744117 cites W2088871683 @default.
• W2178744117 cites W2090617159 @default.
• W2178744117 cites W2093691852 @default.
• W2178744117 cites W2093909923 @default.
• W2178744117 cites W2094201044 @default.
• W2178744117 cites W2095664544 @default.
• W2178744117 cites W2098303384 @default.
• W2178744117 cites W2108570063 @default.
• W2178744117 cites W2122021122 @default.
• W2178744117 cites W2122336578 @default.
• W2178744117 cites W2122967721 @default.
• W2178744117 cites W2129609915 @default.
• W2178744117 cites W2137015675 @default.
• W2178744117 cites W2138539810 @default.
• W2178744117 cites W2141956263 @default.
• W2178744117 cites W2142755371 @default.
• W2178744117 cites W2148984531 @default.
• W2178744117 cites W2156947499 @default.
• W2178744117 cites W2157996023 @default.
• W2178744117 cites W2159718916 @default.
• W2178744117 cites W2161016216 @default.
• W2178744117 cites W2161746138 @default.
• W2178744117 cites W2171091522 @default.
• W2178744117 cites W2172083032 @default.
• W2178744117 cites W2313881658 @default.
• W2178744117 cites W95014119 @default.
• W2178744117 doi "https://doi.org/10.1210/me.2015-1205" @default.
• W2178744117 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4695626" @default.
• W2178744117 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26554443" @default.
• W2178744117 hasPublicationYear "2016" @default.
• W2178744117 type Work @default.
• W2178744117 sameAs 2178744117 @default.
• W2178744117 citedByCount "4" @default.
• W2178744117 countsByYear W21787441172018 @default.
• W2178744117 countsByYear W21787441172019 @default.
• W2178744117 countsByYear W21787441172020 @default.
• W2178744117 crossrefType "journal-article" @default.
• W2178744117 hasAuthorship W2178744117A5004520766 @default.
• W2178744117 hasAuthorship W2178744117A5018176645 @default.
• W2178744117 hasAuthorship W2178744117A5027691538 @default.

• next