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The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: kespohl b. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
The role of proteolysis in interleukin-11 signaling.
Lokau J, Kespohl B, Kirschke S, Garbers C. Lokau J, et al. Among authors: kespohl b. Biochim Biophys Acta Mol Cell Res. 2022 Jan;1869(1):119135. doi: 10.1016/j.bbamcr.2021.119135. Epub 2021 Oct 6. Biochim Biophys Acta Mol Cell Res. 2022. PMID: 34624437 Free article. Review.
Mutations in Craniosynostosis Patients Cause Defective Interleukin-11 Receptor Maturation and Drive Craniosynostosis-like Disease in Mice.
Agthe M, Brügge J, Garbers Y, Wandel M, Kespohl B, Arnold P, Flynn CM, Lokau J, Aparicio-Siegmund S, Bretscher C, Rose-John S, Waetzig GH, Putoczki T, Grötzinger J, Garbers C. Agthe M, et al. Among authors: kespohl b. Cell Rep. 2018 Oct 2;25(1):10-18.e5. doi: 10.1016/j.celrep.2018.09.005. Cell Rep. 2018. PMID: 30282020 Free article.