Kerzendorfer C - Search Results

1

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.

Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M. Kerzendorfer C, et al. Hum Mol Genet. 2010 Apr 1;19(7):1324-34. doi: 10.1093/hmg/ddq008. Epub 2010 Jan 11. Hum Mol Genet. 2010. PMID: 20064923 Free PMC article.

2

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency.

Kerzendorfer C, O'Driscoll M. Kerzendorfer C, et al. DNA Repair (Amst). 2009 Sep 2;8(9):1139-52. doi: 10.1016/j.dnarep.2009.04.018. Epub 2009 May 26. DNA Repair (Amst). 2009. PMID: 19473885 Review.

3

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.

Kerzendorfer C, Hart L, Colnaghi R, Carpenter G, Alcantara D, Outwin E, Carr AM, O'Driscoll M. Kerzendorfer C, et al. Mech Ageing Dev. 2011 Aug;132(8-9):366-73. doi: 10.1016/j.mad.2011.02.003. Epub 2011 Feb 23. Mech Ageing Dev. 2011. PMID: 21352845 Review.

4

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Kerzendorfer C, Hannes F, Colnaghi R, Abramowicz I, Carpenter G, Vermeesch JR, O'Driscoll M. Kerzendorfer C, et al. Hum Mol Genet. 2012 May 15;21(10):2181-93. doi: 10.1093/hmg/dds033. Epub 2012 Feb 10. Hum Mol Genet. 2012. PMID: 22328085

5

UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB.

Kerzendorfer C, O'Driscoll M. Kerzendorfer C, et al. J Invest Dermatol. 2009 Jul;129(7):1611-3. doi: 10.1038/jid.2009.99. J Invest Dermatol. 2009. PMID: 19521409 Free article.

6

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

Kerzendorfer C, Colnaghi R, Abramowicz I, Carpenter G, O'Driscoll M. Kerzendorfer C, et al. DNA Repair (Amst). 2013 Aug;12(8):637-44. doi: 10.1016/j.dnarep.2013.04.016. Epub 2013 May 23. DNA Repair (Amst). 2013. PMID: 23706772 Free article.

7

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

8

A chemical-genetic screen reveals a mechanism of resistance to PI3K inhibitors in cancer.

Muellner MK, Uras IZ, Gapp BV, Kerzendorfer C, Smida M, Lechtermann H, Craig-Mueller N, Colinge J, Duernberger G, Nijman SM. Muellner MK, et al. Among authors: kerzendorfer c. Nat Chem Biol. 2011 Sep 25;7(11):787-93. doi: 10.1038/nchembio.695. Nat Chem Biol. 2011. PMID: 21946274 Free PMC article.

9

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.

10

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.

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