PDB/1J46[Secondary Source ID] - Search Results

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Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. Irrthum A, et al. Am J Hum Genet. 2003 Jun;72(6):1470-8. doi: 10.1086/375614. Epub 2003 May 8. Am J Hum Genet. 2003. PMID: 12740761 Free PMC article.

Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.

Murphy EC, Zhurkin VB, Louis JM, Cornilescu G, Clore GM. Murphy EC, et al. J Mol Biol. 2001 Sep 21;312(3):481-99. doi: 10.1006/jmbi.2001.4977. J Mol Biol. 2001. PMID: 11563911

Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.

Racca JD, Chen YS, Yang Y, Phillips NB, Weiss MA. Racca JD, et al. J Biol Chem. 2016 Oct 14;291(42):22173-22195. doi: 10.1074/jbc.M116.741959. Epub 2016 Aug 30. J Biol Chem. 2016. PMID: 27576690 Free PMC article.

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