A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes

@article{Groote2015ANR,
  title={A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes},
  author={Pascal De Groote and Hong Thi Tran and Mathias Fransen and Giel Tanghe and Corinne Urwyler and Bram De Craene and Kirsten Leurs and Barbara Gilbert and Griet Van Imschoot and Riet de Rycke and Christopher J. Gu{\'e}rin and Pam Holland and Geert Berx and Peter Vandenabeele and Saskia Lippens and Kris Vleminckx and Wim Declercq},
  journal={Cell Death and Differentiation},
  year={2015},
  volume={22},
  pages={1012-1024}
}
Receptor-interacting protein kinase 4 (RIPK4)-deficient mice have epidermal defects and fusion of all external orifices. These are similar to Bartsocas–Papas syndrome and popliteal pterygium syndrome (PPS) in humans, for which causative mutations have been documented in the RIPK4 and IRF6 (interferon regulatory factor 6) gene, respectively. Although genetically distinct, these syndromes share the anomalies of marked pterygia, syndactyly, clefting and hypoplastic genitalia. Despite the strong… CONTINUE READING
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