Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
about
Palatogenesis and cutaneous repair: A two-headed coinMutational landscape of aggressive cutaneous squamous cell carcinomaNew insights into craniofacial malformationsSystematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling.Periderm prevents pathological epithelial adhesions during embryogenesis.Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation.A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.Increased RIPK4 expression is associated with progression and poor prognosis in cervical squamous cell carcinoma patientsPhosphorylation of Pkp1 by RIPK4 regulates epidermal differentiation and skin tumorigenesis.Toward an orofacial gene regulatory network.Genetics of cleft lip and cleft palate.A brother and sister with breast cancer, BRCA2 mutations and bilateral supernumerary nipples.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.IKK-related genetic diseases: probing NF-κB functions in humans and other matters.30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology.Molecular and cytoskeletal regulations in epidermal development.Leveling the Playing Field in Homozygosity Mapping Using Map Distances.RIP4 inhibits STAT3 signaling to sustain lung adenocarcinoma differentiation.PKK suppresses tumor growth and is decreased in squamous cell carcinoma of the skin.Popliteal pterygium syndrome: a rare entity.Synthetic Biology Reveals the Uniqueness of the RIP Kinase Domain.Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.A20 regulates canonical wnt-signaling through an interaction with RIPK4.Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.RIPK4 promotes bladder urothelial carcinoma cell aggressiveness by upregulating VEGF-A through the NF-κB pathway.Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
P2860
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P2860
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@ast
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@en
type
label
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@ast
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@en
prefLabel
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@ast
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@en
P2093
P2860
P1476
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
@en
P2093
Aysegul Cansu
Bayram Toraman
Ebtesam Mohammed Abdalla
Elmar Kreiger
Ersan Kalay
Heba Morsy
Hulya Kayserili
Mehmet Mutlu
Nurten A Akarsu
Orhan Sezgin
P2860
P356
10.1016/J.AJHG.2011.11.014
P407
P577
2011-12-22T00:00:00Z