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Human Mutation|August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancerRajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.Nature Communications|June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.Human Molecular Genetics|October 25, 2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndromeElla Thomson, Minh Tran, Gorjana Robevska, et al.Plos One|March 2, 2013
Loss of GGN leads to pre-implantation embryonic lethality and compromised male meiotic DNA double strand break repair in the mouseDuangporn Jamsai, Anne E O'Connor, Kathleen D Deboer, et al.Biology of Reproduction|July 12, 2013
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiationElanor N Wainwright, Joan S Jorgensen, Youngha Kim, et al.Nucleic Acids Research|September 27, 2021
A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activityAlex J McCann, Jieqiong Lou, Mehdi Moustaqil, et al.Scientific Reports|August 18, 2019
Endocardium differentiation through Sox17 expression in endocardium precursor cells regulates heart development in miceRie Saba, Keiko Kitajima, Lucille Rainbow, et al.Cell Chemical Biology|February 7, 2017
Small-Molecule Inhibitors of the SOX18 Transcription FactorFrank Fontaine, Jeroen Overman, Mehdi Moustaqil, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|June 20, 2012
CITED2 mutations potentially cause idiopathic premature ovarian failureDora Janeth Fonseca, Diego Ojeda, Besma Lakhal, et al.Pageof 21