Associated Papers
Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.
Liu Z et al.
Molecular Genetics & Genomic Medicine, 2025
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf
The structure of the IL-11 signalling complex provides insight into receptor variants associated with craniosynostosis.
Sentosa DD et al.
The Febs Journal, 2025
Molecular characterization of the craniosynostosis-associated interleukin-11 receptor variants p.T306_S308dup and p.E364_V368del.
Kespohl B et al.
The Febs Journal, 2024
Craniosynostosis-associated variants in the IL-11R complex: new insights and questions.
Sims NA et al.
The Febs Journal, 2024
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I et al.
Scientific Reports, 2023
Coding variants of the interleukin-11 receptor with reduced protein maturation show protease-dependent trans-signaling and transduce normal STAT3 signaling.
Kespohl B et al.
Genes & Diseases, 2023
Mutations in Craniosynostosis Patients Cause Defective Interleukin-11 Receptor Maturation and Drive Craniosynostosis-like Disease in Mice.
Agthe M et al.
Cell Reports, 2018
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Brischoux-Boucher E et al.
Clinical Genetics, 2018
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
Nieminen P et al.
American Journal of Human Genetics, 2011
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