FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3012516097> ?p ?o ?g. }

• W3012516097 endingPage "6128" @default.
• W3012516097 startingPage "6111" @default.
• W3012516097 abstract "Hydroxysteroid (17β) dehydrogenase type 3 (HSD17B3) deficiency causes a disorder of sex development in humans, where affected males are born with female-appearing external genitalia, but are virilized during puberty. The hormonal disturbances observed in the Hsd17b3 knockout mice (HSD17B3KO), generated in the present study, mimic those found in patients with HSD17B3 mutations. Identical to affected humans, serum T in the adult HSD17B3KO mice was within the normal range, while a striking increase was detected in serum A-dione concentration. This resulted in a marked reduction of the serum T/A-dione ratio, a diagnostic hallmark for the patients with HSD17B3 deficiency. However, unlike humans, male HSD17B3KO mice were born with normally virilized phenotype, but presenting with delayed puberty. In contrast to the current belief, data from HSD17B3KO mice show that the circulating T largely originates from the testes, indicating a strong compensatory mechanism in the absence of HSD17B3. The lack of testicular malignancies in HSD17B3KO mice supports the view that testis tumors in human patients are due to associated cryptorchidism. The HSD17B3KO mice presented also with impaired Leydig cell maturation and signs of undermasculinization in adulthood. The identical hormonal disturbances between HSD17B3 deficient knockout mice and human patients make the current mouse model valuable for understanding the mechanism of the patient phenotypes, as well as endocrinopathies and compensatory steroidogenic mechanisms in HSD17B3 deficiency." @default.
• W3012516097 created "2020-03-23" @default.
• W3012516097 creator A5024403470 @default.
• W3012516097 creator A5030339915 @default.
• W3012516097 creator A5039519124 @default.
• W3012516097 creator A5041089549 @default.
• W3012516097 creator A5059450953 @default.
• W3012516097 creator A5064220321 @default.
• W3012516097 creator A5064331844 @default.
• W3012516097 creator A5069481439 @default.
• W3012516097 creator A5080497006 @default.
• W3012516097 creator A5088392007 @default.
• W3012516097 creator A5091032474 @default.
• W3012516097 date "2020-03-19" @default.
• W3012516097 modified "2023-10-10" @default.
• W3012516097 title "The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency" @default.
• W3012516097 cites W1969390491 @default.
• W3012516097 cites W1970019672 @default.
• W3012516097 cites W1976932391 @default.
• W3012516097 cites W1979415981 @default.
• W3012516097 cites W1979782649 @default.
• W3012516097 cites W1981225377 @default.
• W3012516097 cites W1985301127 @default.
• W3012516097 cites W1988742321 @default.
• W3012516097 cites W1996192218 @default.
• W3012516097 cites W2003004843 @default.
• W3012516097 cites W2013460791 @default.
• W3012516097 cites W2015015700 @default.
• W3012516097 cites W2016562570 @default.
• W3012516097 cites W2019448930 @default.
• W3012516097 cites W2028135910 @default.
• W3012516097 cites W2032228785 @default.
• W3012516097 cites W2033527028 @default.
• W3012516097 cites W2043659942 @default.
• W3012516097 cites W2043862378 @default.
• W3012516097 cites W2050045288 @default.
• W3012516097 cites W2059223117 @default.
• W3012516097 cites W2092821514 @default.
• W3012516097 cites W2093029383 @default.
• W3012516097 cites W2096790979 @default.
• W3012516097 cites W2107049497 @default.
• W3012516097 cites W2112949705 @default.
• W3012516097 cites W2135435665 @default.
• W3012516097 cites W2141337056 @default.
• W3012516097 cites W2147549984 @default.
• W3012516097 cites W2161042210 @default.
• W3012516097 cites W2365172592 @default.
• W3012516097 cites W2728629646 @default.
• W3012516097 cites W2734854785 @default.
• W3012516097 cites W2745671876 @default.
• W3012516097 cites W2784454346 @default.
• W3012516097 cites W2894005863 @default.
• W3012516097 cites W2902838927 @default.
• W3012516097 cites W4211258097 @default.
• W3012516097 cites W4230162269 @default.
• W3012516097 cites W4232753436 @default.
• W3012516097 cites W4245397246 @default.
• W3012516097 cites W4251042319 @default.
• W3012516097 cites W4254757487 @default.
• W3012516097 cites W4255608412 @default.
• W3012516097 doi "https://doi.org/10.1096/fj.201902384r" @default.
• W3012516097 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32190925" @default.
• W3012516097 hasPublicationYear "2020" @default.
• W3012516097 type Work @default.
• W3012516097 sameAs 3012516097 @default.
• W3012516097 citedByCount "6" @default.
• W3012516097 countsByYear W30125160972021 @default.
• W3012516097 countsByYear W30125160972022 @default.
• W3012516097 countsByYear W30125160972023 @default.
• W3012516097 crossrefType "journal-article" @default.
• W3012516097 hasAuthorship W3012516097A5024403470 @default.
• W3012516097 hasAuthorship W3012516097A5030339915 @default.
• W3012516097 hasAuthorship W3012516097A5039519124 @default.
• W3012516097 hasAuthorship W3012516097A5041089549 @default.
• W3012516097 hasAuthorship W3012516097A5059450953 @default.
• W3012516097 hasAuthorship W3012516097A5064220321 @default.
• W3012516097 hasAuthorship W3012516097A5064331844 @default.
• W3012516097 hasAuthorship W3012516097A5069481439 @default.
• W3012516097 hasAuthorship W3012516097A5080497006 @default.
• W3012516097 hasAuthorship W3012516097A5088392007 @default.
• W3012516097 hasAuthorship W3012516097A5091032474 @default.
• W3012516097 hasConcept C104317684 @default.
• W3012516097 hasConcept C126322002 @default.
• W3012516097 hasConcept C127716648 @default.
• W3012516097 hasConcept C134018914 @default.
• W3012516097 hasConcept C170493617 @default.
• W3012516097 hasConcept C182704531 @default.
• W3012516097 hasConcept C192536144 @default.
• W3012516097 hasConcept C2776354409 @default.
• W3012516097 hasConcept C2777736315 @default.
• W3012516097 hasConcept C2778575703 @default.
• W3012516097 hasConcept C46699223 @default.
• W3012516097 hasConcept C55493867 @default.
• W3012516097 hasConcept C71315377 @default.
• W3012516097 hasConcept C71924100 @default.
• W3012516097 hasConcept C86803240 @default.
• W3012516097 hasConceptScore W3012516097C104317684 @default.
• W3012516097 hasConceptScore W3012516097C126322002 @default.

• next