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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: zipf w. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.
Shen L, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel AW, Carroll MC, Zipf WB, Yu CY. Shen L, et al. Among authors: zipf wb. J Biol Chem. 1994 Mar 18;269(11):8466-76. J Biol Chem. 1994. PMID: 8132574 Free article.
Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations.
Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY. Yang Z, et al. Among authors: zipf wb. J Biol Chem. 1999 Apr 23;274(17):12147-56. doi: 10.1074/jbc.274.17.12147. J Biol Chem. 1999. PMID: 10207042 Free article.
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.
Blanchong CA, Zhou B, Rupert KL, Chung EK, Jones KN, Sotos JF, Zipf WB, Rennebohm RM, Yung Yu C. Blanchong CA, et al. Among authors: zipf wb. J Exp Med. 2000 Jun 19;191(12):2183-96. doi: 10.1084/jem.191.12.2183. J Exp Med. 2000. PMID: 10859342 Free PMC article.
79 results