ArticleAmerican journal of human genetics2012
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- Review
- Lysophosphatidic acid down-regulates human RIPK4 mRNA in keratinocyte- derived cell lines.PloS one · 2024Article
- Functions of the RIP kinase family members in the skin.Cellular and molecular life sciences : CMLS · 2023Review
- Insights into the formation and diversification of a novel chiropteran wing membrane from embryonic development.BMC biology · 2023Article
- Vemurafenib and Dabrafenib Downregulates RIPK4 Level.Cancers · 2023Article
- Article
- Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.Genes · 2022Article
- Revisiting the embryogenesis of lip and palate development.Oral diseases · 2022Review
- Depletion of RIPK4 parallels higher malignancy potential in cutaneous squamous cell carcinoma.PeerJ · 2022Article
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Deciphering the Functional Role of RIPK4 in Melanoma.International journal of molecular sciences · 2021Article
- The Nuclear Factor Kappa B (NF-kB) signaling in cancer development and immune diseases.Genes & diseases · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Advances in scarless foetal wound healing and prospects for scar reduction in adults.Cell proliferation · 2020Review
- Insight Into the Function of RIPK4 in Keratinocyte Differentiation and Carcinogenesis.Frontiers in oncology · 2020Review
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.Nature · 2019Article
- Broad Phenotypes of Disorders/Differences of Sex Development inFrontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 3 countries.
Funding
Abstract
Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, early lethality is common, complicating the identification of causative mutations. Using exome sequencing in a consanguineous family, we identified the homozygous mutation c.1127C>A in exon 7 of RIPK4 that resulted in the introduction of the nonsense mutation p.Ser376X into the encoded ankyrin repeat-containing kinase, a protein that is essential for keratinocyte differentiation. Subsequently, we identified a second mutation in exon 2 of RIPK4 (c.242T>A) that resulted in the missense variant p.Ile81Asn in the kinase domain of the protein. We have further demonstrated that RIPK4 is a direct transcriptional target of the protein p63, a master regulator of stratified epithelial development, which acts as a nodal point in the cascade of molecular events that prevent pterygium syndromes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.