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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Martin CA, et al. Among authors: klingseisen a. Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26. Nat Genet. 2014. PMID: 25344692 Free PMC article.
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Bicknell LS, et al. Among authors: klingseisen a. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633
Myelination of Neuronal Cell Bodies when Myelin Supply Exceeds Axonal Demand.
Almeida RG, Pan S, Cole KLH, Williamson JM, Early JJ, Czopka T, Klingseisen A, Chan JR, Lyons DA. Almeida RG, et al. Among authors: klingseisen a. Curr Biol. 2018 Apr 23;28(8):1296-1305.e5. doi: 10.1016/j.cub.2018.02.068. Epub 2018 Apr 5. Curr Biol. 2018. PMID: 29628374 Free PMC article.
Neuronal activity disrupts myelinated axon integrity in the absence of NKCC1b.
Marshall-Phelps KLH, Kegel L, Baraban M, Ruhwedel T, Almeida RG, Rubio-Brotons M, Klingseisen A, Benito-Kwiecinski SK, Early JJ, Bin JM, Suminaite D, Livesey MR, Möbius W, Poole RJ, Lyons DA. Marshall-Phelps KLH, et al. Among authors: klingseisen a. J Cell Biol. 2020 Jul 6;219(7):e201909022. doi: 10.1083/jcb.201909022. J Cell Biol. 2020. PMID: 32364583 Free PMC article.
13 results