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Items: 1 to 50 of 114

1.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF.

Genet Med. 2019 Oct 14. doi: 10.1038/s41436-019-0672-1. [Epub ahead of print]

PMID:
31607746
2.

Determination of the acute toxic effects of zinc oxide nanoparticles (ZnO NPs) in total hemocytes counts of Galleria mellonella (Lepidoptera: Pyralidae) with two different methods.

Eskin A, Öztürk Ş, Körükçü M.

Ecotoxicology. 2019 Sep;28(7):801-808. doi: 10.1007/s10646-019-02078-2. Epub 2019 Jul 17.

PMID:
31317358
3.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

4.

Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM.

Hum Mol Genet. 2019 Jan 15;28(2):279-289. doi: 10.1093/hmg/ddy349.

PMID:
30289454
5.

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.

Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF.

Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12.

6.

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B.

Elife. 2018 May 22;7. pii: e32451. doi: 10.7554/eLife.32451.

7.

Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF.

PLoS Genet. 2018 May 16;14(5):e1007392. doi: 10.1371/journal.pgen.1007392. eCollection 2018 May.

8.

Metabolic characterization of isocitrate dehydrogenase (IDH) mutant and IDH wildtype gliomaspheres uncovers cell type-specific vulnerabilities.

Garrett M, Sperry J, Braas D, Yan W, Le TM, Mottahedeh J, Ludwig K, Eskin A, Qin Y, Levy R, Breunig JJ, Pajonk F, Graeber TG, Radu CG, Christofk H, Prins RM, Lai A, Liau LM, Coppola G, Kornblum HI.

Cancer Metab. 2018 Apr 17;6:4. doi: 10.1186/s40170-018-0177-4. eCollection 2018.

9.

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.

Kramerova I, Torres JA, Eskin A, Nelson SF, Spencer MJ.

Hum Mol Genet. 2018 May 1;27(9):1642-1653. doi: 10.1093/hmg/ddy071.

10.

Transcriptional regulation of macrophage cholesterol efflux and atherogenesis by a long noncoding RNA.

Sallam T, Jones M, Thomas BJ, Wu X, Gilliland T, Qian K, Eskin A, Casero D, Zhang Z, Sandhu J, Salisbury D, Rajbhandari P, Civelek M, Hong C, Ito A, Liu X, Daniel B, Lusis AJ, Whitelegge J, Nagy L, Castrillo A, Smale S, Tontonoz P.

Nat Med. 2018 Mar;24(3):304-312. doi: 10.1038/nm.4479. Epub 2018 Feb 12.

11.

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.

Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E.

Biol Sex Differ. 2018 Jan 30;9(1):8. doi: 10.1186/s13293-018-0167-9.

12.

ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs.

Hicks MR, Hiserodt J, Paras K, Fujiwara W, Eskin A, Jan M, Xi H, Young CS, Evseenko D, Nelson SF, Spencer MJ, Handel BV, Pyle AD.

Nat Cell Biol. 2018 Jan;20(1):46-57. doi: 10.1038/s41556-017-0010-2. Epub 2017 Dec 18.

13.

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells.

Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E.

Sci Rep. 2016 Nov 15;6:36916. doi: 10.1038/srep36916.

14.

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).

Kramerova I, Ermolova N, Eskin A, Hevener A, Quehenberger O, Armando AM, Haller R, Romain N, Nelson SF, Spencer MJ.

Hum Mol Genet. 2016 Jun 1;25(11):2194-2207. Epub 2016 Mar 22.

15.

Feedback modulation of cholesterol metabolism by the lipid-responsive non-coding RNA LeXis.

Sallam T, Jones MC, Gilliland T, Zhang L, Wu X, Eskin A, Sandhu J, Casero D, Vallim TQ, Hong C, Katz M, Lee R, Whitelegge J, Tontonoz P.

Nature. 2016 Jun 2;534(7605):124-8. doi: 10.1038/nature17674. Epub 2016 May 11.

16.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH.

Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016.

17.

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.

Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E.

Hum Reprod. 2016 Apr;31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23.

18.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A.

Arch Iran Med. 2016 Feb;19(2):87-91. doi: 0161902/AIM.004.

19.

Genomic predictors of remission to antidepressant treatment in geriatric depression using genome-wide expression analyses: a pilot study.

Eyre HA, Eskin A, Nelson SF, St Cyr NM, Siddarth P, Baune BT, Lavretsky H.

Int J Geriatr Psychiatry. 2016 May;31(5):510-7. doi: 10.1002/gps.4356. Epub 2015 Oct 15.

20.

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Brown R, Lee H, Eskin A, Kichaev G, Lohmueller KE, Reversade B, Nelson SF, Pasaniuc B.

Eur J Hum Genet. 2016 Jan;24(1):113-9. doi: 10.1038/ejhg.2015.68. Epub 2015 Apr 22.

21.

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B.

Hum Mol Genet. 2015 Jun 1;24(11):3163-71. doi: 10.1093/hmg/ddv067. Epub 2015 Feb 24.

22.

Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits.

Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF.

PLoS Curr. 2014 Oct 17;6. pii: ecurrents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. doi: 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a.

23.

Ethanol-induced differential gene expression and acetyl-CoA metabolism in a longevity model of the nematode Caenorhabditis elegans.

Patananan AN, Budenholzer LM, Eskin A, Torres ER, Clarke SG.

Exp Gerontol. 2015 Jan;61:20-30. doi: 10.1016/j.exger.2014.11.010. Epub 2014 Nov 18.

24.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E.

J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10.

25.

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.

Swaggart KA, Demonbreun AR, Vo AH, Swanson KE, Kim EY, Fahrenbach JP, Holley-Cuthrell J, Eskin A, Chen Z, Squire K, Heydemann A, Palmer AA, Nelson SF, McNally EM.

Proc Natl Acad Sci U S A. 2014 Apr 22;111(16):6004-9. doi: 10.1073/pnas.1324242111. Epub 2014 Apr 9.

26.

Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA.

Nathanson DA, Gini B, Mottahedeh J, Visnyei K, Koga T, Gomez G, Eskin A, Hwang K, Wang J, Masui K, Paucar A, Yang H, Ohashi M, Zhu S, Wykosky J, Reed R, Nelson SF, Cloughesy TF, James CD, Rao PN, Kornblum HI, Heath JR, Cavenee WK, Furnari FB, Mischel PS.

Science. 2014 Jan 3;343(6166):72-6. doi: 10.1126/science.1241328. Epub 2013 Dec 5.

27.

Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.

Tanaka K, Eskin A, Chareyre F, Jessen WJ, Manent J, Niwa-Kawakita M, Chen R, White CH, Vitte J, Jaffer ZM, Nelson SF, Rubenstein AE, Giovannini M.

Clin Cancer Res. 2013 Jul 15;19(14):3856-70. doi: 10.1158/1078-0432.CCR-12-3167. Epub 2013 May 28.

28.

EGFR mutation-induced alternative splicing of Max contributes to growth of glycolytic tumors in brain cancer.

Babic I, Anderson ES, Tanaka K, Guo D, Masui K, Li B, Zhu S, Gu Y, Villa GR, Akhavan D, Nathanson D, Gini B, Mareninov S, Li R, Camacho CE, Kurdistani SK, Eskin A, Nelson SF, Yong WH, Cavenee WK, Cloughesy TF, Christofk HR, Black DL, Mischel PS.

Cell Metab. 2013 Jun 4;17(6):1000-8. doi: 10.1016/j.cmet.2013.04.013. Epub 2013 May 23.

29.

Identifying the mesenchymal molecular subtype of glioblastoma using quantitative volumetric analysis of anatomic magnetic resonance images.

Naeini KM, Pope WB, Cloughesy TF, Harris RJ, Lai A, Eskin A, Chowdhury R, Phillips HS, Nghiemphu PL, Behbahanian Y, Ellingson BM.

Neuro Oncol. 2013 May;15(5):626-34. doi: 10.1093/neuonc/not008. Epub 2013 Feb 26.

30.

Relationship between increase in astrocytic GLT-1 glutamate transport and late-LTP.

Pita-Almenar JD, Zou S, Colbert CM, Eskin A.

Learn Mem. 2012 Nov 19;19(12):615-26. doi: 10.1101/lm.023259.111.

31.

Differential gene expression in glioblastoma defined by ADC histogram analysis: relationship to extracellular matrix molecules and survival.

Pope WB, Mirsadraei L, Lai A, Eskin A, Qiao J, Kim HJ, Ellingson B, Nghiemphu PL, Kharbanda S, Soriano RH, Nelson SF, Yong W, Phillips HS, Cloughesy TF.

AJNR Am J Neuroradiol. 2012 Jun;33(6):1059-64. doi: 10.3174/ajnr.A2917. Epub 2012 Jan 19.

32.

Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas ligand pathway.

Konkankit VV, Kim W, Koya RC, Eskin A, Dam MA, Nelson S, Ribas A, Liau LM, Prins RM.

J Transl Med. 2011 Nov 7;9:192. doi: 10.1186/1479-5876-9-192.

33.

Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells.

Liu Y, Ye F, Yamada K, Tso JL, Zhang Y, Nguyen DH, Dong Q, Soto H, Choe J, Dembo A, Wheeler H, Eskin A, Schmid I, Yong WH, Mischel PS, Cloughesy TF, Kornblum HI, Nelson SF, Liau LM, Tso CL.

Mol Cancer Res. 2011 Dec;9(12):1668-85. doi: 10.1158/1541-7786.MCR-10-0563. Epub 2011 Oct 19.

34.

Regulation of glutamate transporter GLT-1 by MAGI-1.

Zou S, Pita-Almenar JD, Eskin A.

J Neurochem. 2011 Jun;117(5):833-40. doi: 10.1111/j.1471-4159.2011.07250.x. Epub 2011 Apr 19.

35.

Characterization of three cell lines derived from fine needle biopsy of choroidal melanoma with metastatic outcome.

Burgess BL, Rao NP, Eskin A, Nelson SF, McCannel TA.

Mol Vis. 2011 Feb 25;17:607-15.

36.

PKG-mediated MAPK signaling is necessary for long-term operant memory in Aplysia.

Michel M, Green CL, Eskin A, Lyons LC.

Learn Mem. 2011 Jan 18;18(2):108-17. doi: 10.1101/lm.2063611. Print 2011 Feb.

37.

Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy.

Prins RM, Soto H, Konkankit V, Odesa SK, Eskin A, Yong WH, Nelson SF, Liau LM.

Clin Cancer Res. 2011 Mar 15;17(6):1603-15. doi: 10.1158/1078-0432.CCR-10-2563. Epub 2010 Dec 6.

38.

IL-17A is increased in the serum and in spinal cord CD8 and mast cells of ALS patients.

Fiala M, Chattopadhay M, La Cava A, Tse E, Liu G, Lourenco E, Eskin A, Liu PT, Magpantay L, Tse S, Mahanian M, Weitzman R, Tong J, Nguyen C, Cho T, Koo P, Sayre J, Martinez-Maza O, Rosenthal MJ, Wiedau-Pazos M.

J Neuroinflammation. 2010 Nov 9;7:76. doi: 10.1186/1742-2094-7-76.

39.

Genomic identification of significant targets in ciliochoroidal melanoma.

McCannel TA, Burgess BL, Nelson SF, Eskin A, Straatsma BR.

Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3018-22. doi: 10.1167/iovs.10-5864.

PMID:
20688739
40.

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF.

PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832. Erratum in: PLoS Genet. 2018 May 16;14 (5):e1007392.

41.

Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone.

Kappadakunnel M, Eskin A, Dong J, Nelson SF, Mischel PS, Liau LM, Ngheimphu P, Lai A, Cloughesy TF, Goldin J, Pope WB.

J Neurooncol. 2010 Feb;96(3):359-67. doi: 10.1007/s11060-009-9983-4. Epub 2009 Aug 5.

42.

Intermediate-term memory is modulated by the circadian clock.

Lyons LC, Green CL, Eskin A.

J Biol Rhythms. 2008 Dec;23(6):538-42. doi: 10.1177/0748730408325359.

43.

Post-translational regulation of an Aplysia glutamate transporter during long-term facilitation.

Collado MS, Khabour O, Fioravante D, Byrne JH, Eskin A.

J Neurochem. 2009 Jan;108(1):176-89. doi: 10.1111/j.1471-4159.2008.05757.x. Epub 2008 Nov 22.

44.

Training with inedible food in Aplysia causes expression of C/EBP in the buccal but not cerebral ganglion.

Levitan D, Lyons LC, Perelman A, Green CL, Motro B, Eskin A, Susswein AJ.

Learn Mem. 2008 May 28;15(6):412-6. doi: 10.1101/lm.970408. Print 2008 Jun.

45.

In vivo regulation of an Aplysia glutamate transporter, ApGT1, during long-term memory formation.

Collado MS, Lyons LC, Levenson JM, Khabour O, Pita-Almenar JD, Schrader L, Eskin A.

J Neurochem. 2007 Mar;100(5):1315-28.

46.

Different mechanisms exist for the plasticity of glutamate reuptake during early long-term potentiation (LTP) and late LTP.

Pita-Almenar JD, Collado MS, Colbert CM, Eskin A.

J Neurosci. 2006 Oct 11;26(41):10461-71.

47.

The circadian clock modulates core steps in long-term memory formation in Aplysia.

Lyons LC, Collado MS, Khabour O, Green CL, Eskin A.

J Neurosci. 2006 Aug 23;26(34):8662-71.

48.
49.

TGF-beta1-induced long-term changes in neuronal excitability in aplysia sensory neurons depend on MAPK.

Chin J, Liu RY, Cleary LJ, Eskin A, Byrne JH.

J Neurophysiol. 2006 May;95(5):3286-90.

50.

Circadian modulation of complex learning in diurnal and nocturnal Aplysia.

Lyons LC, Rawashdeh O, Katzoff A, Susswein AJ, Eskin A.

Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12589-94. Epub 2005 Aug 22.

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