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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K. Houzelstein D, et al. Among authors: mcelreavey k. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. Nat Commun. 2024. PMID: 38555298 Free PMC article.
Genetics of 46,XY gonadal dysgenesis.
Elzaiat M, McElreavey K, Bashamboo A. Elzaiat M, et al. Among authors: mcelreavey k. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101633. doi: 10.1016/j.beem.2022.101633. Epub 2022 Feb 25. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35249806 Review.
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Lourenço D, et al. Among authors: mcelreavey k. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25. N Engl J Med. 2009. PMID: 19246354 Free PMC article.
[NR5A1 and ovarian failure].
Bashamboo A, Ravel C, Brauner R, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Med Sci (Paris). 2009 Oct;25(10):809-13. doi: 10.1051/medsci/20092510809. Med Sci (Paris). 2009. PMID: 19849982 Free article. Review. French.
NR5A1/SF-1 and development and function of the ovary.
Bashamboo A, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Ann Endocrinol (Paris). 2010 May;71(3):177-82. doi: 10.1016/j.ando.2010.02.013. Epub 2010 Apr 14. Ann Endocrinol (Paris). 2010. PMID: 20394914 Review.
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Am J Hum Genet. 2010. PMID: 20887963 Free PMC article.
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Semin Cell Dev Biol. 2015 Sep;45:77-83. doi: 10.1016/j.semcdb.2015.10.030. Epub 2015 Oct 23. Semin Cell Dev Biol. 2015. PMID: 26526145 Review.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Among authors: mcelreavey k. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378692 Free PMC article.
241 results