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Items: 1 to 50 of 58

1.

Functional Enhancers Shape Extrachromosomal Oncogene Amplifications.

Morton AR, Dogan-Artun N, Faber ZJ, MacLeod G, Bartels CF, Piazza MS, Allan KC, Mack SC, Wang X, Gimple RC, Wu Q, Rubin BP, Shetty S, Angers S, Dirks PB, Sallari RC, Lupien M, Rich JN, Scacheri PC.

Cell. 2019 Nov 27;179(6):1330-1341.e13. doi: 10.1016/j.cell.2019.10.039. Epub 2019 Nov 21.

PMID:
31761532
2.

Mismatch repair-signature mutations activate gene enhancers across human colorectal cancer epigenomes.

Hung S, Saiakhova A, Faber ZJ, Bartels CF, Neu D, Bayles I, Ojo E, Hong ES, Pontius WD, Morton AR, Liu R, Kalady MF, Wald DN, Markowitz S, Scacheri PC.

Elife. 2019 Feb 13;8. pii: e40760. doi: 10.7554/eLife.40760.

3.

Corrigendum: Positively selected enhancer elements endow osteosarcoma cells with metastatic competence.

Morrow JJ, Bayles I, Funnell APW, Miller TE, Saiakhova A, Lizardo MM, Bartels CF, Kapteijn MY, Hung S, Mendoza A, Dhillon G, Chee DR, Myers JT, Allen F, Gambarotti M, Righi A, DiFeo A, Rubin BP, Huang AY, Meltzer PS, Helman LJ, Picci P, Versteeg HH, Stamatoyannopoulos JA, Khanna C, Scacheri PC.

Nat Med. 2018 Apr 10;24(4):525. doi: 10.1038/nm0418-525c.

PMID:
29634688
4.

CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.

Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ, Bartels CF, Raphael Y, Scacheri PC, Iwase S, Martin DM.

JCI Insight. 2018 Feb 22;3(4). pii: 97440. doi: 10.1172/jci.insight.97440. eCollection 2018 Feb 22.

5.

Positively selected enhancer elements endow osteosarcoma cells with metastatic competence.

Morrow JJ, Bayles I, Funnell APW, Miller TE, Saiakhova A, Lizardo MM, Bartels CF, Kapteijn MY, Hung S, Mendoza A, Dhillon G, Chee DR, Myers JT, Allen F, Gambarotti M, Righi A, DiFeo A, Rubin BP, Huang AY, Meltzer PS, Helman LJ, Picci P, Versteeg HH, Stamatoyannopoulos JA, Khanna C, Scacheri PC.

Nat Med. 2018 Feb;24(2):176-185. doi: 10.1038/nm.4475. Epub 2018 Jan 15. Erratum in: Nat Med. 2018 Apr 10;24(4):525.

6.

Hotspots of aberrant enhancer activity punctuate the colorectal cancer epigenome.

Cohen AJ, Saiakhova A, Corradin O, Luppino JM, Lovrenert K, Bartels CF, Morrow JJ, Mack SC, Dhillon G, Beard L, Myeroff L, Kalady MF, Willis J, Bradner JE, Keri RA, Berger NA, Pruett-Miller SM, Markowitz SD, Scacheri PC.

Nat Commun. 2017 Feb 7;8:14400. doi: 10.1038/ncomms14400.

7.

Transcriptome-wide identification of mRNAs and lincRNAs associated with trastuzumab-resistance in HER2-positive breast cancer.

Merry CR, McMahon S, Forrest ME, Bartels CF, Saiakhova A, Bartel CA, Scacheri PC, Thompson CL, Jackson MW, Harris LN, Khalil AM.

Oncotarget. 2016 Aug 16;7(33):53230-53244. doi: 10.18632/oncotarget.10637.

8.

Protective effects of C-type natriuretic peptide on linear growth and articular cartilage integrity in a mouse model of inflammatory arthritis.

Bükülmez H, Khan F, Bartels CF, Murakami S, Ortiz-Lopez A, Sattar A, Haqqi TM, Warman ML.

Arthritis Rheumatol. 2014 Jan;66(1):78-89. doi: 10.1002/art.38199.

9.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Review.

PMID:
22791401
10.

H3K4me3 inversely correlates with DNA methylation at a large class of non-CpG-island-containing start sites.

Balasubramanian D, Akhtar-Zaidi B, Song L, Bartels CF, Veigl M, Beard L, Myeroff L, Guda K, Lutterbaugh J, Willis J, Crawford GE, Markowitz SD, Scacheri PC.

Genome Med. 2012 May 28;4(5):47. doi: 10.1186/gm346.

11.

Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene.

Tian C, Yu H, Yang B, Han F, Zheng Y, Bartels CF, Schelling D, Arnold JE, Scacheri PC, Zheng QY.

PLoS One. 2012;7(4):e34944. doi: 10.1371/journal.pone.0034944. Epub 2012 Apr 23.

12.

Epigenomic enhancer profiling defines a signature of colon cancer.

Akhtar-Zaidi B, Cowper-Sal-lari R, Corradin O, Saiakhova A, Bartels CF, Balasubramanian D, Myeroff L, Lutterbaugh J, Jarrar A, Kalady MF, Willis J, Moore JH, Tesar PJ, Laframboise T, Markowitz S, Lupien M, Scacheri PC.

Science. 2012 May 11;336(6082):736-9. doi: 10.1126/science.1217277. Epub 2012 Apr 12.

13.

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M.

BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.

14.

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Bartels CF, Scacheri C, White L, Scacheri PC, Bale S.

Genet Test Mol Biomarkers. 2010 Dec;14(6):881-91. doi: 10.1089/gtmb.2010.0101.

15.

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression.

Schnetz MP, Handoko L, Akhtar-Zaidi B, Bartels CF, Pereira CF, Fisher AG, Adams DJ, Flicek P, Crawford GE, Laframboise T, Tesar P, Wei CL, Scacheri PC.

PLoS Genet. 2010 Jul 15;6(7):e1001023. doi: 10.1371/journal.pgen.1001023.

16.

Temporal and spatial expression of CCN genes in zebrafish.

Fernando CA, Conrad PA, Bartels CF, Marques T, To M, Balow SA, Nakamura Y, Warman ML.

Dev Dyn. 2010 Jun;239(6):1755-67. doi: 10.1002/dvdy.22279.

17.

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.

Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, Balaji R, Zhang X, Song L, Wang Z, Laframboise T, Crawford GE, Scacheri PC.

Genome Res. 2009 Apr;19(4):590-601. doi: 10.1101/gr.086983.108. Epub 2009 Feb 27.

18.

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.

Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916.

PMID:
19177549
19.

Epitope tagging of endogenous proteins for genome-wide ChIP-chip studies.

Zhang X, Guo C, Chen Y, Shulha HP, Schnetz MP, LaFramboise T, Bartels CF, Markowitz S, Weng Z, Scacheri PC, Wang Z.

Nat Methods. 2008 Feb;5(2):163-5. doi: 10.1038/nmeth1170. Epub 2008 Jan 6.

20.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML.

J Clin Endocrinol Metab. 2006 Apr;91(4):1229-32. Epub 2005 Dec 29.

PMID:
16384845
21.

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma Collaborative Group.

Am J Hum Genet. 2005 Nov;77(5):741-53. Epub 2005 Sep 27.

22.

Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.

Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y, Laxer R, Goldbach-Mansky R, Warman ML.

J Biol Chem. 2005 Sep 2;280(35):31325-32. Epub 2005 Jul 5.

23.

Reaction kinetics of biotinylated organophosphorus toxicant, FP-biotin, with human acetylcholinesterase and human butyrylcholinesterase.

Schopfer LM, Voelker T, Bartels CF, Thompson CM, Lockridge O.

Chem Res Toxicol. 2005 Apr;18(4):747-54.

PMID:
15833035
24.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML.

Am J Hum Genet. 2004 Jul;75(1):27-34. Epub 2004 May 14.

25.

High activity of human butyrylcholinesterase at low pH in the presence of excess butyrylthiocholine.

Masson P, Nachon F, Bartels CF, Froment MT, Ribes F, Matthews C, Lockridge O.

Eur J Biochem. 2003 Jan;270(2):315-24.

26.

The mutational spectrum of brachydactyly type C.

Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML.

Am J Med Genet. 2002 Oct 15;112(3):291-6.

PMID:
12357473
28.

The active site of human paraoxonase (PON1).

Josse D, Lockridge O, Xie W, Bartels CF, Schopfer LM, Masson P.

J Appl Toxicol. 2001 Dec;21 Suppl 1:S7-11.

PMID:
11920913
29.

Substrate activation in acetylcholinesterase induced by low pH or mutation in the pi-cation subsite.

Masson P, Schopfer LM, Bartels CF, Froment MT, Ribes F, Nachon F, Lockridge O.

Biochim Biophys Acta. 2002 Feb 11;1594(2):313-24.

PMID:
11904227
30.

Determination of the DNA sequences of acetylcholinesterase and butyrylcholinesterase from cat and demonstration of the existence of both in cat plasma.

Bartels CF, Xie W, Miller-Lindholm AK, Schopfer LM, Lockridge O.

Biochem Pharmacol. 2000 Aug 15;60(4):479-87.

PMID:
10874122
31.
32.

A naturally occurring genetic variant in the human chorionic gonadotropin-beta gene 5 is assembly inefficient.

Miller-Lindholm AK, Bedows E, Bartels CF, Ramey J, Maclin V, Ruddon RW.

Endocrinology. 1999 Aug;140(8):3496-506.

PMID:
10433205
33.

An improved cocaine hydrolase: the A328Y mutant of human butyrylcholinesterase is 4-fold more efficient.

Xie W, Altamirano CV, Bartels CF, Speirs RJ, Cashman JR, Lockridge O.

Mol Pharmacol. 1999 Jan;55(1):83-91.

PMID:
9882701
34.

Prolonged paralysis after a test dose of mivacurium in a patient with atypical serum cholinesterase.

Vanlinthout LE, Bartels CF, Lockridge O, Callens K, Booij LH.

Anesth Analg. 1998 Nov;87(5):1199-202. No abstract available.

PMID:
9806709
35.

Butyrylcholinesterase-catalysed hydrolysis of aspirin, a negatively charged ester, and aspirin-related neutral esters.

Masson P, Froment MT, Fortier PL, Visicchio JE, Bartels CF, Lockridge O.

Biochim Biophys Acta. 1998 Sep 8;1387(1-2):41-52.

PMID:
9748494
36.

Aging of di-isopropyl-phosphorylated human butyrylcholinesterase.

Masson P, Fortier PL, Albaret C, Froment MT, Bartels CF, Lockridge O.

Biochem J. 1997 Oct 15;327 ( Pt 2):601-7.

37.

Importance of aspartate-70 in organophosphate inhibition, oxime re-activation and aging of human butyrylcholinesterase.

Masson P, Froment MT, Bartels CF, Lockridge O.

Biochem J. 1997 Jul 1;325 ( Pt 1):53-61.

38.

Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase.

Masson P, Legrand P, Bartels CF, Froment MT, Schopfer LM, Lockridge O.

Biochemistry. 1997 Feb 25;36(8):2266-77.

PMID:
9047329
39.

Asp7O in the peripheral anionic site of human butyrylcholinesterase.

Masson P, Froment MT, Bartels CF, Lockridge O.

Eur J Biochem. 1996 Jan 15;235(1-2):36-48.

40.

Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN.

Am J Hum Genet. 1996 Jan;58(1):52-64.

41.

Tissue distribution of human acetylcholinesterase and butyrylcholinesterase messenger RNA.

Jbilo O, Bartels CF, Chatonnet A, Toutant JP, Lockridge O.

Toxicon. 1994 Nov;32(11):1445-57.

PMID:
7886701
42.

Endogenous butyrylcholinesterase in SV40 transformed cell lines: COS-1, COS-7, MRC-5 SV40, and WI-38 VA13.

Kris M, Jbilo O, Bartels CF, Masson P, Rhode S, Lockridge O.

In Vitro Cell Dev Biol Anim. 1994 Oct;30A(10):680-9.

PMID:
7842168
43.

Mutation His322Asn in human acetylcholinesterase does not alter electrophoretic and catalytic properties of the erythrocyte enzyme.

Masson P, Froment MT, Sorenson RC, Bartels CF, Lockridge O.

Blood. 1994 May 15;83(10):3003-5.

PMID:
8180397
44.

Disulfide bond mutations affect the folding of the human chorionic gonadotropin-beta subunit in transfected Chinese hamster ovary cells.

Bedows E, Huth JR, Suganuma N, Bartels CF, Boime I, Ruddon RW.

J Biol Chem. 1993 Jun 5;268(16):11655-62.

45.
46.

Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.

Nogueira CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM, Lightstone H, Van der Spek AF, Lockridge O, La Du BN.

Am J Hum Genet. 1992 Oct;51(4):821-8.

47.

Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.

Jensen FS, Bartels CF, La Du BN.

Pharmacogenetics. 1992 Oct;2(5):234-40.

PMID:
1306123
48.

DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN.

Am J Hum Genet. 1992 May;50(5):1086-103.

49.

DNA mutations associated with the human butyrylcholinesterase J-variant.

Bartels CF, James K, La Du BN.

Am J Hum Genet. 1992 May;50(5):1104-14.

50.

Use of the polymerase chain reaction for homology probing of butyrylcholinesterase from several vertebrates.

Arpagaus M, Chatonnet A, Masson P, Newton M, Vaughan TA, Bartels CF, Nogueira CP, La Du BN, Lockridge O.

J Biol Chem. 1991 Apr 15;266(11):6966-74.

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