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Items: 39

1.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group.

Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.

2.

Enhanced CRISPR-based DNA demethylation by Casilio-ME-mediated RNA-guided coupling of methylcytosine oxidation and DNA repair pathways.

Taghbalout A, Du M, Jillette N, Rosikiewicz W, Rath A, Heinen CD, Li S, Cheng AW.

Nat Commun. 2019 Sep 20;10(1):4296. doi: 10.1038/s41467-019-12339-7.

3.

Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.

Rath A, Mishra A, Ferreira VD, Hu C, Omerza G, Kelly K, Hesse A, Reddi HV, Grady JP, Heinen CD.

Hum Mutat. 2019 Nov;40(11):2044-2056. doi: 10.1002/humu.23848. Epub 2019 Aug 17.

PMID:
31237724
4.

The mismatch repair-dependent DNA damage response: Mechanisms and implications.

Gupta D, Heinen CD.

DNA Repair (Amst). 2019 Jun;78:60-69. doi: 10.1016/j.dnarep.2019.03.009. Epub 2019 Apr 1. Review.

PMID:
30959407
5.

ATR-Chk1 activation mitigates replication stress caused by mismatch repair-dependent processing of DNA damage.

Gupta D, Lin B, Cowan A, Heinen CD.

Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1523-1528. doi: 10.1073/pnas.1720355115. Epub 2018 Jan 29.

6.

Contributions of DNA repair and damage response pathways to the non-linear genotoxic responses of alkylating agents.

Klapacz J, Pottenger LH, Engelward BP, Heinen CD, Johnson GE, Clewell RA, Carmichael PL, Adeleye Y, Andersen ME.

Mutat Res Rev Mutat Res. 2016 Jan-Mar;767:77-91. doi: 10.1016/j.mrrev.2015.11.001. Epub 2015 Dec 2. Review.

7.

Enhanced gene targeting to evaluate Lynch syndrome alterations.

Fishel R, Heinen CD.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):3918-20. doi: 10.1073/pnas.1602650113. Epub 2016 Mar 24. No abstract available.

8.

Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer.

Heinen CD.

DNA Repair (Amst). 2016 Feb;38:127-134. doi: 10.1016/j.dnarep.2015.11.025. Epub 2015 Dec 2. Review.

9.

Milestones of Lynch syndrome: 1895-2015.

Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP.

Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12. Review.

PMID:
25673086
10.

Human pluripotent stem cells have a novel mismatch repair-dependent damage response.

Lin B, Gupta D, Heinen CD.

J Biol Chem. 2014 Aug 29;289(35):24314-24. doi: 10.1074/jbc.M114.570937. Epub 2014 Jul 10.

11.

Translating mismatch repair mechanism into cancer care.

Heinen CD.

Curr Drug Targets. 2014 Jan;15(1):53-64.

PMID:
24387335
12.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M.

Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

13.

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.

Hum Mutat. 2013 Jun;34(6):923-4. doi: 10.1002/humu.22310. Epub 2013 Mar 28. No abstract available.

PMID:
23554108
14.

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.

Hum Mutat. 2012 Dec;33(12):1617-25. doi: 10.1002/humu.22168. Epub 2012 Aug 13. Review.

PMID:
22833534
15.

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD, Juel Rasmussen L.

Hered Cancer Clin Pract. 2012 Jul 23;10(1):9. doi: 10.1186/1897-4287-10-9.

16.

Aberrant crypt foci as predictors of colorectal neoplasia on repeat colonoscopy.

Anderson JC, Swede H, Rustagi T, Protiva P, Pleau D, Brenner BM, Rajan TV, Heinen CD, Levine JB, Rosenberg DW.

Cancer Causes Control. 2012 Feb;23(2):355-61. doi: 10.1007/s10552-011-9884-7. Epub 2011 Dec 21.

PMID:
22187142
17.

DNA mismatch repair proteins are required for efficient herpes simplex virus 1 replication.

Mohni KN, Mastrocola AS, Bai P, Weller SK, Heinen CD.

J Virol. 2011 Dec;85(23):12241-53. doi: 10.1128/JVI.05487-11. Epub 2011 Sep 28.

18.

Human MSH2 (hMSH2) protein controls ATP processing by hMSH2-hMSH6.

Heinen CD, Cyr JL, Cook C, Punja N, Sakato M, Forties RA, Lopez JM, Hingorani MM, Fishel R.

J Biol Chem. 2011 Nov 18;286(46):40287-95. doi: 10.1074/jbc.M111.297523. Epub 2011 Sep 19.

19.

The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.

Cyr JL, Brown GD, Stroop J, Heinen CD.

Mol Carcinog. 2012 Aug;51(8):647-58. doi: 10.1002/mc.20838. Epub 2011 Aug 11.

20.

Loss of DNA mismatch repair imparts a selective advantage in planarian adult stem cells.

Hollenbach JP, Resch AM, Palakodeti D, Graveley BR, Heinen CD.

PLoS One. 2011;6(7):e21808. doi: 10.1371/journal.pone.0021808. Epub 2011 Jul 1.

21.

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.

Mastrocola AS, Heinen CD.

Hum Mutat. 2010 Oct;31(10):E1699-708. doi: 10.1002/humu.21333.

22.

Increased frequency of serrated aberrant crypt foci among smokers.

Anderson JC, Pleau DC, Rajan TV, Protiva P, Swede H, Brenner B, Heinen CD, Lambrecht RW, Rosenberg DW.

Am J Gastroenterol. 2010 Jul;105(7):1648-54. doi: 10.1038/ajg.2010.109. Epub 2010 Mar 16.

PMID:
20234347
23.

Nuclear reorganization of DNA mismatch repair proteins in response to DNA damage.

Mastrocola AS, Heinen CD.

DNA Repair (Amst). 2010 Feb 4;9(2):120-33. doi: 10.1016/j.dnarep.2009.11.003. Epub 2009 Dec 8.

24.

Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Heinen CD.

Mutat Res. 2010 Nov 10;693(1-2):32-45. doi: 10.1016/j.mrfmmm.2009.09.004. Epub 2009 Sep 17. Review.

25.

Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.

Cyr JL, Heinen CD.

J Biol Chem. 2008 Nov 14;283(46):31641-8. doi: 10.1074/jbc.M806018200. Epub 2008 Sep 11.

26.

Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans.

Rosenberg DW, Yang S, Pleau DC, Greenspan EJ, Stevens RG, Rajan TV, Heinen CD, Levine J, Zhou Y, O'Brien MJ.

Cancer Res. 2007 Apr 15;67(8):3551-4.

27.

Microsatellite instability in aberrant crypt foci from patients without concurrent colon cancer.

Greenspan EJ, Cyr JL, Pleau DC, Levine J, Rajan TV, Rosenberg DW, Heinen CD.

Carcinogenesis. 2007 Apr;28(4):769-76. Epub 2006 Nov 4.

PMID:
17088260
28.

Aberrant crypt foci in patients with a positive family history of sporadic colorectal cancer.

Stevens RG, Swede H, Heinen CD, Jablonski M, Grupka M, Ross B, Parente M, Tirnauer JS, Giardina C, Rajan TV, Rosenberg DW, Levine J.

Cancer Lett. 2007 Apr 18;248(2):262-8. Epub 2006 Sep 6.

PMID:
16950561
29.

Magnesium influences the discrimination and release of ADP by human RAD51.

Shim KS, Tombline G, Heinen CD, Charbonneau N, Schmutte C, Fishel R.

DNA Repair (Amst). 2006 Jun 10;5(6):704-17. Epub 2006 Apr 19.

PMID:
16624636
30.

hXRCC2 enhances ADP/ATP processing and strand exchange by hRAD51.

Shim KS, Schmutte C, Tombline G, Heinen CD, Fishel R.

J Biol Chem. 2004 Jul 16;279(29):30385-94. Epub 2004 May 3.

31.

Signaling mismatch repair: the mechanics of an adenosine-nucleotide molecular switch.

Fishel R, Acharya S, Berardini M, Bocker T, Charbonneau N, Cranston A, Gradia S, Guerrette S, Heinen CD, Mazurek A, Snowden T, Schmutte C, Shim KS, Tombline G, Wilson T.

Cold Spring Harb Symp Quant Biol. 2000;65:217-24. Review. No abstract available.

PMID:
12760035
32.

DNA repair and tumorigenesis: lessons from hereditary cancer syndromes.

Heinen CD, Schmutte C, Fishel R.

Cancer Biol Ther. 2002 Sep-Oct;1(5):477-85. Review.

PMID:
12496472
33.

The APC tumor suppressor controls entry into S-phase through its ability to regulate the cyclin D/RB pathway.

Heinen CD, Goss KH, Cornelius JR, Babcock GF, Knudsen ES, Kowalik T, Groden J.

Gastroenterology. 2002 Sep;123(3):751-63.

PMID:
12198702
34.

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

Heinen CD, Wilson T, Mazurek A, Berardini M, Butz C, Fishel R.

Cancer Cell. 2002 Jun;1(5):469-78.

35.

Biochemical characterization of the human RAD51 protein. III. Modulation of DNA binding by adenosine nucleotides.

Tombline G, Heinen CD, Shim KS, Fishel R.

J Biol Chem. 2002 Apr 26;277(17):14434-42. Epub 2002 Feb 11.

36.

Respect for the opposition.

Heinen CD.

Science. 2000 Mar 31;287(5462):2422. No abstract available.

PMID:
10766617
37.

Regenerative lesions in ulcerative colitis are characterized by microsatellite mutation.

Heinen CD, Noffsinger AE, Belli J, Straughen J, Fischer J, Groden J, Fenoglio-Preiser CM.

Genes Chromosomes Cancer. 1997 Jul;19(3):170-5.

PMID:
9218998
38.

Microsatellite instability in aberrant crypt foci from human colons.

Heinen CD, Shivapurkar N, Tang Z, Groden J, Alabaster O.

Cancer Res. 1996 Dec 1;56(23):5339-41.

39.

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