Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

By S. Kondo, B. Schutte, R. Richardson, B. Bjork, A. S. Knight, Yoriko Watanabe, E. Howard, R. D. Lima, S. Daack-Hirsch, A. Sander and 16 more. Nature Genetics, 2002

883 citations recorded by the source corpus.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/d0f1c8246347bf63aa236a13dba3a0eab3a5063c

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Citations in the corpus

• Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans (2009, background): “To assess whether the uORF-altering mutations influenced protein expression, we used luciferase reporter constructs to test patient mutations in 5 genes (HBB, PRKAR1A, IRF6, SRY, and SPINK1).”