FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015478664> ?p ?o ?g. }

• W2015478664 endingPage "209" @default.
• W2015478664 startingPage "200" @default.
• W2015478664 abstract "Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in humans focused on 46,XY individuals with combined adrenogonadal failure and Mullerian structures. Although this combination of clinical features is rare, 2 such patients harboring NR5A1 mutations have been described within the past decade. More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function. The phenotypic spectrum associated with these changes ranges from complete testicular dysgenesis with Mullerian structures, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal hypospadias or even anorchia. Furthermore, a non-synonymous polymorphism in NR5A1 may be associated with micropenis or undescended testes within the population. Taken together, these reports suggest that variable loss of SF-1 function can be associated with a wide range of reproductive phenotypes in humans." @default.
• W2015478664 created "2016-06-24" @default.
• W2015478664 creator A5005285642 @default.
• W2015478664 creator A5020220103 @default.
• W2015478664 date "2008-01-01" @default.
• W2015478664 modified "2023-10-06" @default.
• W2015478664 title "Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and Disorders of Testis Development" @default.
• W2015478664 cites W1541395198 @default.
• W2015478664 cites W1577584933 @default.
• W2015478664 cites W1640150978 @default.
• W2015478664 cites W1807249501 @default.
• W2015478664 cites W1964803062 @default.
• W2015478664 cites W1965654708 @default.
• W2015478664 cites W1969114671 @default.
• W2015478664 cites W1972037723 @default.
• W2015478664 cites W1974053954 @default.
• W2015478664 cites W1974663161 @default.
• W2015478664 cites W1975207593 @default.
• W2015478664 cites W1977873240 @default.
• W2015478664 cites W1982167352 @default.
• W2015478664 cites W1987783037 @default.
• W2015478664 cites W1989061770 @default.
• W2015478664 cites W1989404311 @default.
• W2015478664 cites W1989772312 @default.
• W2015478664 cites W1990307219 @default.
• W2015478664 cites W1990646602 @default.
• W2015478664 cites W1991766349 @default.
• W2015478664 cites W1993271053 @default.
• W2015478664 cites W1998861353 @default.
• W2015478664 cites W2000441118 @default.
• W2015478664 cites W2007585861 @default.
• W2015478664 cites W2008901495 @default.
• W2015478664 cites W2009443375 @default.
• W2015478664 cites W2010885000 @default.
• W2015478664 cites W2027494570 @default.
• W2015478664 cites W2027675368 @default.
• W2015478664 cites W2029799875 @default.
• W2015478664 cites W2030787587 @default.
• W2015478664 cites W2033098747 @default.
• W2015478664 cites W2035838105 @default.
• W2015478664 cites W2040687221 @default.
• W2015478664 cites W2041816594 @default.
• W2015478664 cites W2041858854 @default.
• W2015478664 cites W2044046815 @default.
• W2015478664 cites W2044577125 @default.
• W2015478664 cites W2049424035 @default.
• W2015478664 cites W2052038494 @default.
• W2015478664 cites W2055540960 @default.
• W2015478664 cites W2055960307 @default.
• W2015478664 cites W2073688806 @default.
• W2015478664 cites W2076249557 @default.
• W2015478664 cites W2078503449 @default.
• W2015478664 cites W2079059309 @default.
• W2015478664 cites W2082685929 @default.
• W2015478664 cites W2083234724 @default.
• W2015478664 cites W2085124463 @default.
• W2015478664 cites W2085821671 @default.
• W2015478664 cites W2086307442 @default.
• W2015478664 cites W2095362827 @default.
• W2015478664 cites W2098035462 @default.
• W2015478664 cites W2103290106 @default.
• W2015478664 cites W2105344558 @default.
• W2015478664 cites W2110985070 @default.
• W2015478664 cites W2113613354 @default.
• W2015478664 cites W2128369394 @default.
• W2015478664 cites W2130290296 @default.
• W2015478664 cites W2131580970 @default.
• W2015478664 cites W2134212585 @default.
• W2015478664 cites W2135034961 @default.
• W2015478664 cites W2136178606 @default.
• W2015478664 cites W2140144749 @default.
• W2015478664 cites W2143150139 @default.
• W2015478664 cites W2146108647 @default.
• W2015478664 cites W2155458215 @default.
• W2015478664 cites W2156317041 @default.
• W2015478664 cites W2157309735 @default.
• W2015478664 cites W2170709449 @default.
• W2015478664 cites W2171226274 @default.
• W2015478664 cites W2171932920 @default.
• W2015478664 cites W2395375079 @default.
• W2015478664 doi "https://doi.org/10.1159/000152036" @default.
• W2015478664 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2645687" @default.
• W2015478664 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18987494" @default.
• W2015478664 hasPublicationYear "2008" @default.
• W2015478664 type Work @default.
• W2015478664 sameAs 2015478664 @default.
• W2015478664 citedByCount "172" @default.
• W2015478664 countsByYear W20154786642012 @default.
• W2015478664 countsByYear W20154786642013 @default.
• W2015478664 countsByYear W20154786642014 @default.
• W2015478664 countsByYear W20154786642015 @default.
• W2015478664 countsByYear W20154786642016 @default.
• W2015478664 countsByYear W20154786642017 @default.
• W2015478664 countsByYear W20154786642018 @default.
• W2015478664 countsByYear W20154786642019 @default.
• W2015478664 countsByYear W20154786642020 @default.
• W2015478664 countsByYear W20154786642021 @default.
• W2015478664 countsByYear W20154786642022 @default.

• next