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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: kerzendorfer c. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633
A reversible gene trap collection empowers haploid genetics in human cells.
Bürckstümmer T, Banning C, Hainzl P, Schobesberger R, Kerzendorfer C, Pauler FM, Chen D, Them N, Schischlik F, Rebsamen M, Smida M, Fece de la Cruz F, Lapao A, Liszt M, Eizinger B, Guenzl PM, Blomen VA, Konopka T, Gapp B, Parapatics K, Maier B, Stöckl J, Fischl W, Salic S, Taba Casari MR, Knapp S, Bennett KL, Bock C, Colinge J, Kralovics R, Ammerer G, Casari G, Brummelkamp TR, Superti-Furga G, Nijman SM. Bürckstümmer T, et al. Among authors: kerzendorfer c. Nat Methods. 2013 Oct;10(10):965-71. doi: 10.1038/nmeth.2609. Epub 2013 Aug 25. Nat Methods. 2013. PMID: 24161985 Free PMC article.
MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated.
Smida M, Fece de la Cruz F, Kerzendorfer C, Uras IZ, Mair B, Mazouzi A, Suchankova T, Konopka T, Katz AM, Paz K, Nagy-Bojarszky K, Muellner MK, Bago-Horvath Z, Haura EB, Loizou JI, Nijman SM. Smida M, et al. Among authors: kerzendorfer c. Nat Commun. 2016 Dec 6;7:13701. doi: 10.1038/ncomms13701. Nat Commun. 2016. PMID: 27922010 Free PMC article.
19 results