Lethal Type Popliteal Pterygium Syndrome

Also Known As:

Popliteal Pterygium Syndrome, Lethal Type; Aslan Multiple Pterygium Syndrome; Bartsocas-Papas Syndrome; Multiple Pterygium Syndrome, Aslan Type; Pterygium, Popliteal, Lethal Type

Networked: 3 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Popliteal Pterygium Syndrome

Experts

1.	Berx, G: 1 article (06/2015)
2.	De Craene, B: 1 article (06/2015)
3.	De Groote, P: 1 article (06/2015)
4.	De Rycke, R: 1 article (06/2015)
5.	Declercq, W: 1 article (06/2015)
6.	Fransen, M: 1 article (06/2015)
7.	Gilbert, B: 1 article (06/2015)
8.	Guérin, C J: 1 article (06/2015)
9.	Holland, P: 1 article (06/2015)
10.	Leurs, K: 1 article (06/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lethal Type Popliteal Pterygium Syndrome:

1.	Phosphotransferases (Kinase)IBA 11/07/2014 - "Gene knockdown and overexpression studies indicated that the RIPK4-IRF6 signaling axis controls the expression of key transcriptional regulators of keratinocyte differentiation, including Grainyhead-like 3 and OVO-like 1. Additionally, we demonstrate that the p.Ile121Asn missense mutation in RIPK4, which has been identified recently in Bartsocas-Papas syndrome, inhibits its kinase activity, thereby preventing RIPK4-mediated IRF6 activation and nuclear translocation. "
2.	Interferon Regulatory FactorsIBA 06/01/2015 - "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. " 11/07/2014 - "Receptor-interacting protein kinase 4 (RIPK4) and interferon regulatory factor 6 (IRF6) are critical regulators of keratinocyte differentiation, and their mutation causes the related developmental epidermal disorders Bartsocas-Papas syndrome and popliteal pterygium syndrome, respectively. "
3.	Protein Kinases (Protein Kinase)IBA 03/22/2013 - "Receptor-interacting protein kinase 4 (RIPK4) is required for epidermal differentiation and is mutated in Bartsocas-Papas syndrome. " 11/07/2014 - "Receptor-interacting protein kinase 4 (RIPK4) and interferon regulatory factor 6 (IRF6) are critical regulators of keratinocyte differentiation, and their mutation causes the related developmental epidermal disorders Bartsocas-Papas syndrome and popliteal pterygium syndrome, respectively. "