Associated Papers
Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
Lu YL et al.
Italian Journal of Pediatrics, 2025
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
Dinçer T et al.
American Journal of Medical Genetics. Part A, 2021
RIPK4 activity in keratinocytes is controlled by the SCFβ-TrCP ubiquitin ligase to maintain cortical actin organization.
Tanghe G et al.
Cellular and Molecular Life Sciences : Cmls, 2018
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Busa T et al.
American Journal of Medical Genetics. Part A, 2017
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
Kwa MQ et al.
Cellular Signalling, 2015
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.
De Groote P et al.
Cell Death and Differentiation, 2015
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Mitchell K et al.
American Journal of Human Genetics, 2012
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