Zeman MK - Search Results

1

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH. Slaats GG, et al. Among authors: zeman mk. J Clin Invest. 2015 Sep;125(9):3657-66. doi: 10.1172/JCI80657. Epub 2015 Aug 24. J Clin Invest. 2015. PMID: 26301811 Free PMC article.

2

Causes and consequences of replication stress.

Zeman MK, Cimprich KA. Zeman MK, et al. Nat Cell Biol. 2014 Jan;16(1):2-9. doi: 10.1038/ncb2897. Nat Cell Biol. 2014. PMID: 24366029 Free PMC article. Review.

3

DNA damage-specific deubiquitination regulates Rad18 functions to suppress mutagenesis.

Zeman MK, Lin JR, Freire R, Cimprich KA. Zeman MK, et al. J Cell Biol. 2014 Jul 21;206(2):183-97. doi: 10.1083/jcb.201311063. Epub 2014 Jul 14. J Cell Biol. 2014. PMID: 25023518 Free PMC article.

4

Finally, polyubiquitinated PCNA gets recognized.

Zeman MK, Cimprich KA. Zeman MK, et al. Mol Cell. 2012 Aug 10;47(3):333-4. doi: 10.1016/j.molcel.2012.07.024. Mol Cell. 2012. PMID: 22883622 Free article.

5

SHPRH and HLTF act in a damage-specific manner to coordinate different forms of postreplication repair and prevent mutagenesis.

Lin JR, Zeman MK, Chen JY, Yee MC, Cimprich KA. Lin JR, et al. Among authors: zeman mk. Mol Cell. 2011 Apr 22;42(2):237-49. doi: 10.1016/j.molcel.2011.02.026. Epub 2011 Mar 10. Mol Cell. 2011. PMID: 21396873 Free PMC article.

6

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.

7

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9. Genet Med. 2020. PMID: 31346256 Free PMC article.

8

Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.

Hannah WB, Truty R, Gonzales V, Kithcart GP, Ouyang K, Zeman MK, Li C, Drumm M, Nykamp K, Gaston BM. Hannah WB, et al. Among authors: zeman mk. J Pediatr. 2019 Dec;215:172-177.e2. doi: 10.1016/j.jpeds.2019.08.039. Epub 2019 Oct 11. J Pediatr. 2019. PMID: 31610925

9

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

10

Developmental characteristics of dendritic spines in the dentate gyrus of Fmr1 knockout mice.

Grossman AW, Aldridge GM, Lee KJ, Zeman MK, Jun CS, Azam HS, Arii T, Imoto K, Greenough WT, Rhyu IJ. Grossman AW, et al. Among authors: zeman mk. Brain Res. 2010 Oct 8;1355:221-7. doi: 10.1016/j.brainres.2010.07.090. Epub 2010 Aug 2. Brain Res. 2010. PMID: 20682298 Free PMC article.

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