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Article

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

American journal of human genetics - 13 Jan 2012

Kalay Ersan, Sezgin Orhan, Chellappa Vasant, Mutlu Mehmet, Morsy Heba, Kayserili Hulya, Kreiger Elmar, Cansu Aysegul, Toraman Bayram, Abdalla Ebtesam Mohammed, Aslan Yakup, Pillai Shiv, Akarsu Nurten A

Abstract excerpt

The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this malformation syndrome to chromosomal region 21q22.3. Direct sequencing of RIPK4...

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Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22197489
DOI: 10.1016/j.ajhg.2011.11.014
PMCID: PMC3257895

Genes

RIPK4
CHUK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.PMID 22197489Read ↗

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Semantic proximity Read ↗

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.Semantic proximity Read ↗

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.Semantic proximity Read ↗

Receptor-interacting Protein Kinase 4 and Interferon Regulatory Factor 6 Function as a Signaling Axis to Regulate Keratinocyte DifferentiationSemantic proximity Read ↗

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Semantic proximity Read ↗

A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromesSemantic proximity Read ↗

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Semantic proximity Read ↗

RIP4 is an ankyrin repeat-containing kinase essential for keratinocyte differentiation.Semantic proximity Read ↗

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.Semantic proximity Read ↗

Insight Into the Function of RIPK4 in Keratinocyte Differentiation and CarcinogenesisSemantic proximity Read ↗

Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.Semantic proximity Read ↗

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathySemantic proximity Read ↗

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