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Items: 43

1.

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.

Brimble E, Lee-Messer C, Nagy PL, Propst J, Ruzhnikov MRZ.

Mol Syndromol. 2019 Jan;9(6):295-299. doi: 10.1159/000492706. Epub 2018 Aug 28.

2.

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.

Fyfe JC, Hemker SL, Frampton A, Raj K, Nagy PL, Gibbon KJ, Giger U.

BMC Vet Res. 2018 Dec 27;14(1):418. doi: 10.1186/s12917-018-1752-1.

3.

Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.

Nagy PL, Worman HJ.

Methods Mol Biol. 2018;1840:321-336. doi: 10.1007/978-1-4939-8691-0_22.

PMID:
30141054
4.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.

J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22.

PMID:
30043187
5.

Brain-Derived Neurotrophic Factor Elevates Activating Transcription Factor 4 (ATF4) in Neurons and Promotes ATF4-Dependent Induction of Sesn2.

Liu J, Amar F, Corona C, So RWL, Andrews SJ, Nagy PL, Shelanski ML, Greene LA.

Front Mol Neurosci. 2018 Mar 1;11:62. doi: 10.3389/fnmol.2018.00062. eCollection 2018.

6.

Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.

Vardarajan BN, Tosto G, Lefort R, Yu L, Bennett DA, De Jager PL, Barral S, Reyes-Dumeyer D, Nagy PL, Lee JH, Cheng R, Medrano M, Lantigua R, Rogaeva E, St George-Hyslop P, Mayeux R.

Neurol Genet. 2017 Aug 24;3(5):e178. doi: 10.1212/NXG.0000000000000178. eCollection 2017 Oct.

7.

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA, Glade Bender JL, Sulis ML, Pendrick D, Sireci AN, Hsiao SJ, Turk AT, Dela Cruz FS, Hibshoosh H, Remotti H, Zylber RJ, Pang J, Diolaiti D, Koval C, Andrews SJ, Garvin JH, Yamashiro DJ, Chung WK, Emerson SG, Nagy PL, Mansukhani MM, Kung AL.

Genome Med. 2016 Dec 23;8(1):133. doi: 10.1186/s13073-016-0389-6.

8.

A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.

Dela Cruz FS, Diolaiti D, Turk AT, Rainey AR, Ambesi-Impiombato A, Andrews SJ, Mansukhani MM, Nagy PL, Alvarez MJ, Califano A, Forouhar F, Modzelewski B, Mitchell CM, Yamashiro DJ, Marks LJ, Glade Bender JL, Kung AL.

Genome Med. 2016 Oct 31;8(1):116. doi: 10.1186/s13073-016-0366-0.

9.

A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading.

Shan CM, Wang J, Xu K, Chen H, Yue JX, Andrews S, Moresco JJ, Yates JR, Nagy PL, Tong L, Jia S.

Elife. 2016 Sep 20;5. pii: e17903. doi: 10.7554/eLife.17903.

10.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.

Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31.

11.

Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.

Tannenbaum-Dvir S, Glade Bender JL, Church AJ, Janeway KA, Harris MH, Mansukhani MM, Nagy PL, Andrews SJ, Murty VV, Kadenhe-Chiweshe A, Connolly EP, Kung AL, Dela Cruz FS.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000471. doi: 10.1101/mcs.a000471.

12.

Phenotypic and molecular analyses of primary lateral sclerosis.

Mitsumoto H, Nagy PL, Gennings C, Murphy J, Andrews H, Goetz R, Floeter MK, Hupf J, Singleton J, Barohn RJ, Nations S, Shoesmith C, Kasarskis E, Factor-Litvak P.

Neurol Genet. 2015 Apr 14;1(1):e3. doi: 10.1212/01.NXG.0000464294.88607.dd. eCollection 2015 Jun.

13.

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ.

J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31.

14.

Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort.

Murphy J, Factor-Litvak P, Goetz R, Lomen-Hoerth C, Nagy PL, Hupf J, Singleton J, Woolley S, Andrews H, Heitzman D, Bedlack RS, Katz JS, Barohn RJ, Sorenson EJ, Oskarsson B, Fernandes Filho JA, Kasarskis EJ, Mozaffar T, Rollins YD, Nations SP, Swenson AJ, Koczon-Jaremko BA, Mitsumoto H; ALS COSMOS.

Neurology. 2016 Mar 1;86(9):813-20. doi: 10.1212/WNL.0000000000002305. Epub 2016 Jan 22.

15.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.

Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.

16.

The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.

Nagy PL, Mansukhani M.

Expert Rev Mol Diagn. 2015;15(9):1101-5. doi: 10.1586/14737159.2015.1071667. Epub 2015 Jul 22.

PMID:
26202666
17.

Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide.

Pantazatos SP, Andrews SJ, Dunning-Broadbent J, Pang J, Huang YY, Arango V, Nagy PL, John Mann J.

Neurobiol Dis. 2015 Jul;79:123-34. doi: 10.1016/j.nbd.2015.04.014. Epub 2015 May 8.

18.

Clinical Implementation of Genomic Sequencing in Pediatric Oncology: Identification and Valuation of Resources and Costs Associated with Next-Generation Sequencing.

Oberg JA, Sireci AN, Mansukhani MM, Nagy PL, Glade Bender JL, Kung AL.

Value Health. 2014 Nov;17(7):A645. doi: 10.1016/j.jval.2014.08.2334. Epub 2014 Oct 26. No abstract available.

19.

Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length.

Wang J, Tadeo X, Hou H, Andrews S, Moresco JJ, Yates JR 3rd, Nagy PL, Jia S.

Nucleic Acids Res. 2014 Oct;42(18):11419-32. doi: 10.1093/nar/gku842. Epub 2014 Sep 22.

20.

Axonally synthesized ATF4 transmits a neurodegenerative signal across brain regions.

Baleriola J, Walker CA, Jean YY, Crary JF, Troy CM, Nagy PL, Hengst U.

Cell. 2014 Aug 28;158(5):1159-1172. doi: 10.1016/j.cell.2014.07.001.

21.

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.

Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31.

22.

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Agarwal NS, Northrop L, Anyane-Yeboa K, Aggarwal VS, Nagy PL, Demirdag YY.

J Clin Immunol. 2014 Aug;34(6):607-10. doi: 10.1007/s10875-014-0067-7. Epub 2014 Jun 17.

PMID:
24931897
23.

The proper splicing of RNAi factors is critical for pericentric heterochromatin assembly in fission yeast.

Kallgren SP, Andrews S, Tadeo X, Hou H, Moresco JJ, Tu PG, Yates JR 3rd, Nagy PL, Jia S.

PLoS Genet. 2014 May 29;10(5):e1004334. doi: 10.1371/journal.pgen.1004334. eCollection 2014.

24.

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.

Paliwal A, Temkin AM, Kerkel K, Yale A, Yotova I, Drost N, Lax S, Nhan-Chang CL, Powell C, Borczuk A, Aviv A, Wapner R, Chen X, Nagy PL, Schork N, Do C, Torkamani A, Tycko B.

PLoS Genet. 2013 Aug;9(8):e1003622. doi: 10.1371/journal.pgen.1003622. Epub 2013 Aug 29.

25.

Englerin A stimulates PKCθ to inhibit insulin signaling and to simultaneously activate HSF1: pharmacologically induced synthetic lethality.

Sourbier C, Scroggins BT, Ratnayake R, Prince TL, Lee S, Lee MJ, Nagy PL, Lee YH, Trepel JB, Beutler JA, Linehan WM, Neckers L.

Cancer Cell. 2013 Feb 11;23(2):228-37. doi: 10.1016/j.ccr.2012.12.007. Epub 2013 Jan 23.

26.

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.

Huey ED, Nagy PL, Rodriguez-Murillo L, Manoochehri M, Goldman J, Lieberman J, Karayiorgou M, Mayeux R.

Neurobiol Aging. 2013 Apr;34(4):1309.e9-10. doi: 10.1016/j.neurobiolaging.2012.08.011. Epub 2012 Oct 1.

27.

2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.

Nimmakayalu M, Noble N, Horton VK, Willing M, Copeland S, Sheffield V, Nagy PL, Wassink T, Patil S, Shchelochkov OA.

Am J Med Genet A. 2012 Nov;158A(11):2767-74. doi: 10.1002/ajmg.a.35362. Epub 2012 Sep 28.

PMID:
23023937
28.

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Dialynas G, Flannery KM, Zirbel LN, Nagy PL, Mathews KD, Moore SA, Wallrath LL.

Hum Mol Genet. 2012 Apr 1;21(7):1544-56. doi: 10.1093/hmg/ddr592. Epub 2011 Dec 20.

29.

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

Lu JT, Muchir A, Nagy PL, Worman HJ.

Dis Model Mech. 2011 Sep;4(5):562-8. doi: 10.1242/dmm.006346. Epub 2011 Aug 2. Review.

30.

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.

Calva-Cerqueira D, Dahdaleh FS, Woodfield G, Chinnathambi S, Nagy PL, Larsen-Haidle J, Weigel RJ, Howe JR.

Hum Mol Genet. 2010 Dec 1;19(23):4654-62. doi: 10.1093/hmg/ddq396. Epub 2010 Sep 14.

31.

Formaldehyde-assisted isolation of regulatory elements.

Nagy PL, Price DH.

Wiley Interdiscip Rev Syst Biol Med. 2009 Nov-Dec;1(3):400-406. doi: 10.1002/wsbm.36. Review.

32.

DNA-like class R inhibitory oligonucleotides (INH-ODNs) preferentially block autoantigen-induced B-cell and dendritic cell activation in vitro and autoantibody production in lupus-prone MRL-Fas(lpr/lpr) mice in vivo.

Lenert P, Yasuda K, Busconi L, Nelson P, Fleenor C, Ratnabalasuriar RS, Nagy PL, Ashman RF, Rifkin IR, Marshak-Rothstein A.

Arthritis Res Ther. 2009;11(3):R79. doi: 10.1186/ar2710. Epub 2009 May 28.

33.

Editorial. Epigenetics of development and human disease.

Wallrath LL, Nagy PL, Geyer PK.

Mutat Res. 2008 Dec 1;647(1-2):1-2. doi: 10.1016/j.mrfmmm.2008.10.008. Epub 2008 Oct 25. No abstract available.

34.

The Glc7 phosphatase subunit of the cleavage and polyadenylation factor is essential for transcription termination on snoRNA genes.

Nedea E, Nalbant D, Xia D, Theoharis NT, Suter B, Richardson CJ, Tatchell K, Kislinger T, Greenblatt JF, Nagy PL.

Mol Cell. 2008 Mar 14;29(5):577-87. doi: 10.1016/j.molcel.2007.12.031.

35.

Influence of BGP-15, a nicotinic amidoxime derivative, on the vascularization and growth of murine hepatoma xenografts.

Kardon T, Nagy G, Csala M, Kiss A, Schaff Z, Nagy PL, Wunderlich L, Bánhegyi G, Mandl J.

Anticancer Res. 2006 Mar-Apr;26(2A):1023-8.

36.

Genomewide demarcation of RNA polymerase II transcription units revealed by physical fractionation of chromatin.

Nagy PL, Cleary ML, Brown PO, Lieb JD.

Proc Natl Acad Sci U S A. 2003 May 27;100(11):6364-9. Epub 2003 May 15. Erratum in: Proc Natl Acad Sci U S A. 2006 Oct 10;103(41):15273.

37.

Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1.

Firestein R, Nagy PL, Daly M, Huie P, Conti M, Cleary ML.

J Clin Invest. 2002 May;109(9):1165-72.

38.

A trithorax-group complex purified from Saccharomyces cerevisiae is required for methylation of histone H3.

Nagy PL, Griesenbeck J, Kornberg RD, Cleary ML.

Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):90-4. Epub 2001 Dec 18.

39.

Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus.

Chen S, Nagy PL, Zalkin H.

Nucleic Acids Res. 1997 May 1;25(9):1809-16.

40.

Identification of the Bacillus subtilis pur operon repressor.

Weng M, Nagy PL, Zalkin H.

Proc Natl Acad Sci U S A. 1995 Aug 1;92(16):7455-9.

42.

Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed.

Brayton KA, Chen Z, Zhou G, Nagy PL, Gavalas A, Trent JM, Deaven LL, Dixon JE, Zalkin H.

J Biol Chem. 1994 Feb 18;269(7):5313-21.

43.

purU, a source of formate for purT-dependent phosphoribosyl-N-formylglycinamide synthesis.

Nagy PL, McCorkle GM, Zalkin H.

J Bacteriol. 1993 Nov;175(21):7066-73.

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