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pro vyhledávání: '"Reuben S.Q. Kim"'
Autor:
Reuben S.Q. Kim, Stephen A. Ainger, Hilary X.L. Yong, Aaron G. Smith, Wen Lim, Melinda M. Ashcroft, Richard A. Sturm, Arish Soogrim, Dayana Nur Mahiuddin, Mitchell Fane, Graeme J. Walker, Scott A. Beatson, Darren J. Smit, Yash Chhabra, K. Jagirdar
Publikováno v:
Pigment cellmelanoma research. 31(1)
A SNP within intron4 of the interferon regulatory factor4 (IRF4) gene, rs12203592*C/T, has been independently associated with pigmentation and age-specific effects on naevus count in European-derived populations. We have characterized the cis-regulat
A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway
Autor:
Richard A. Sturm, Kristin Bergsteinsdottir, Pravin J. Mishra, Robert A. Cornell, Glenn Merlino, Lionel Larue, David E. Fisher, Christian Praetorius, Agnar Helgason, Ulduz Sobhiafshar, David U. Gorkin, Paul S. Meltzer, Eric Van Otterloo, Margret H. Ogmundsdottir, Valérie Petit, Andrew S. McCallion, Martin I. Sigurdsson, Eiríkur Steingrímsson, Aaron G. Smith, Simon N. Stacey, Kathleen C. Robinson, N. C. Tolga Emre, Theresa Guo, Alexander M. Metcalf, Erna Magnúsdóttir, M. Raza Zaidi, Kari Stefansson, Sean Davis, Stacie K. Loftus, David R. Adams, Christine Grill, Reuben S.Q. Kim, William J. Pavan
Publikováno v:
ResearcherID
Sequence polymorphisms linked to human diseases and phenotypes in genome-wide association studies often affect non-coding regions. A single nucleotide polymorphism (SNP) within an intron of the gene encoding Interferon Regulatory Factor 4 (IRF4), a t