Matches in SemOpenAlex for { <https://semopenalex.org/work/W3100890924> ?p ?o ?g. }
- W3100890924 endingPage "8554" @default.
- W3100890924 startingPage "8554" @default.
- W3100890924 abstract "Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous NR5A1 variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the NR5A1 gene. We tested the transactivation activity of novel NR5A1 variants. We additionally included six of these patients in a targeted diagnostic gene panel for DSD and identified a second genetic hit in known DSD-causing genes STAR, AMH and ZFPM2/FOG2 in three individuals. Our study increases the number of NR5A1 variants related to 46,XY DSD and supports the hypothesis that a digenic mode of inheritance may contribute towards the broad spectrum of phenotypes observed in individuals with a heterozygous NR5A1 variation." @default.
- W3100890924 created "2020-11-23" @default.
- W3100890924 creator A5021975036 @default.
- W3100890924 creator A5022007647 @default.
- W3100890924 creator A5044705489 @default.
- W3100890924 creator A5045884562 @default.
- W3100890924 creator A5055501752 @default.
- W3100890924 creator A5058537237 @default.
- W3100890924 creator A5067232796 @default.
- W3100890924 creator A5075957032 @default.
- W3100890924 creator A5077460315 @default.
- W3100890924 creator A5078458027 @default.
- W3100890924 creator A5082345992 @default.
- W3100890924 date "2020-11-13" @default.
- W3100890924 modified "2023-09-29" @default.
- W3100890924 title "Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1" @default.
- W3100890924 cites W1541395198 @default.
- W3100890924 cites W1796122241 @default.
- W3100890924 cites W1966012667 @default.
- W3100890924 cites W1977873240 @default.
- W3100890924 cites W1996657928 @default.
- W3100890924 cites W2009854430 @default.
- W3100890924 cites W2011189608 @default.
- W3100890924 cites W2015478664 @default.
- W3100890924 cites W2046864981 @default.
- W3100890924 cites W2049341058 @default.
- W3100890924 cites W2050497323 @default.
- W3100890924 cites W2051978340 @default.
- W3100890924 cites W2052906541 @default.
- W3100890924 cites W2056615811 @default.
- W3100890924 cites W2077763030 @default.
- W3100890924 cites W2084782500 @default.
- W3100890924 cites W2085821671 @default.
- W3100890924 cites W2106197246 @default.
- W3100890924 cites W2111510233 @default.
- W3100890924 cites W2114816848 @default.
- W3100890924 cites W2115382614 @default.
- W3100890924 cites W2123878413 @default.
- W3100890924 cites W2146108647 @default.
- W3100890924 cites W2147982925 @default.
- W3100890924 cites W2155458215 @default.
- W3100890924 cites W2155519853 @default.
- W3100890924 cites W2349396967 @default.
- W3100890924 cites W2557835795 @default.
- W3100890924 cites W2566097750 @default.
- W3100890924 cites W2609695491 @default.
- W3100890924 cites W2610621039 @default.
- W3100890924 cites W2761941275 @default.
- W3100890924 cites W2785960912 @default.
- W3100890924 cites W2790936743 @default.
- W3100890924 cites W2808084781 @default.
- W3100890924 cites W2809354848 @default.
- W3100890924 cites W2898241497 @default.
- W3100890924 cites W2898653393 @default.
- W3100890924 cites W2903402208 @default.
- W3100890924 cites W2913108937 @default.
- W3100890924 cites W2915248280 @default.
- W3100890924 cites W2957977789 @default.
- W3100890924 cites W2972909486 @default.
- W3100890924 cites W2976866118 @default.
- W3100890924 cites W2980200607 @default.
- W3100890924 cites W2998835967 @default.
- W3100890924 cites W3002166166 @default.
- W3100890924 cites W3003517638 @default.
- W3100890924 cites W3010002975 @default.
- W3100890924 cites W3105459157 @default.
- W3100890924 cites W4230557236 @default.
- W3100890924 cites W92000413 @default.
- W3100890924 doi "https://doi.org/10.3390/ijms21228554" @default.
- W3100890924 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7696449" @default.
- W3100890924 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33202802" @default.
- W3100890924 hasPublicationYear "2020" @default.
- W3100890924 type Work @default.
- W3100890924 sameAs 3100890924 @default.
- W3100890924 citedByCount "9" @default.
- W3100890924 countsByYear W31008909242021 @default.
- W3100890924 countsByYear W31008909242022 @default.
- W3100890924 countsByYear W31008909242023 @default.
- W3100890924 crossrefType "journal-article" @default.
- W3100890924 hasAuthorship W3100890924A5021975036 @default.
- W3100890924 hasAuthorship W3100890924A5022007647 @default.
- W3100890924 hasAuthorship W3100890924A5044705489 @default.
- W3100890924 hasAuthorship W3100890924A5045884562 @default.
- W3100890924 hasAuthorship W3100890924A5055501752 @default.
- W3100890924 hasAuthorship W3100890924A5058537237 @default.
- W3100890924 hasAuthorship W3100890924A5067232796 @default.
- W3100890924 hasAuthorship W3100890924A5075957032 @default.
- W3100890924 hasAuthorship W3100890924A5077460315 @default.
- W3100890924 hasAuthorship W3100890924A5078458027 @default.
- W3100890924 hasAuthorship W3100890924A5082345992 @default.
- W3100890924 hasBestOaLocation W31008909241 @default.
- W3100890924 hasConcept C104317684 @default.
- W3100890924 hasConcept C127716648 @default.
- W3100890924 hasConcept C1292079 @default.
- W3100890924 hasConcept C150194340 @default.
- W3100890924 hasConcept C2780902518 @default.
- W3100890924 hasConcept C2781037291 @default.
- W3100890924 hasConcept C54355233 @default.