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McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516. PubMed PMID: 10581026.
Tucker KE, Berciano MT, Jacobs EY, LePage DF, Shpargel KB, Rossire JJ, Chan EK, Lafarga M, Conlon RA, Matera AG. Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. J Cell Biol. 2001 Jul 23;154(2):293-307. doi: 10.1083/jcb.200104083. PubMed PMID: 11470819; PubMed Central PMCID: PMC2150753.
Hebert MD, Szymczyk PW, Shpargel KB, Matera AG. Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. Genes Dev. 2001 Oct 15;15(20):2720-9. doi: 10.1101/gad.908401. PubMed PMID: 11641277; PubMed Central PMCID: PMC312817.
Hebert MD, Shpargel KB, Ospina JK, Tucker KE, Matera AG. Coilin methylation regulates nuclear body formation. Dev Cell. 2002 Sep;3(3):329-37. doi: 10.1016/s1534-5807(02)00222-8. PubMed PMID: 12361597; NIHMSID:NIHMS392652.
Shpargel KB, Ospina JK, Tucker KE, Matera AG, Hebert MD. Control of Cajal body number is mediated by the coilin C-terminus. J Cell Sci. 2003 Jan 15;116(Pt 2):303-12. doi: 10.1242/jcs.00211. PubMed PMID: 12482916; NIHMSID:NIHMS392653.
Vandenbergh DJ, Heron K, Peterson R, Shpargel KB, Woodroffe A, Blizard DA, McClearn GE, Vogler GP. Simple tests to detect errors in high-throughput genotype data in the molecular laboratory. J Biomol Tech. 2003 Mar;14(1):9-16. PubMed PMID: 12901607; PubMed Central PMCID: PMC2279894.
Dundr M, Hebert MD, Karpova TS, Stanek D, Xu H, Shpargel KB, Meier UT, Neugebauer KM, Matera AG, Misteli T. In vivo kinetics of Cajal body components. J Cell Biol. 2004 Mar 15;164(6):831-42. doi: 10.1083/jcb.200311121. PubMed PMID: 15024031; PubMed Central PMCID: PMC1630494.
Shpargel KB, Makishima T, Griffith AJ. Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype. Acta Otolaryngol. 2004 Apr;124(3):242-8. doi: 10.1080/00016480410016162. PubMed PMID: 15141750.
Xu H, Pillai RS, Azzouz TN, Shpargel KB, Kambach C, Hebert MD, Schümperli D, Matera AG. The C-terminal domain of coilin interacts with Sm proteins and U snRNPs. Chromosoma. 2005 Aug;114(3):155-66. doi: 10.1007/s00412-005-0003-y. Epub 2005 Jul 8. PubMed PMID: 16003501; PubMed Central PMCID: PMC1389727.
Shpargel KB, Matera AG. Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins. Proc Natl Acad Sci U S A. 2005 Nov 29;102(48):17372-7. doi: 10.1073/pnas.0508947102. Epub 2005 Nov 21. PubMed PMID: 16301532; PubMed Central PMCID: PMC1297697.
Matera AG, Shpargel KB. Pumping RNA: nuclear bodybuilding along the RNP pipeline. Curr Opin Cell Biol. 2006 Jun;18(3):317-24. doi: 10.1016/ Epub 2006 May 2. Review. PubMed PMID: 16632338; NIHMSID:NIHMS392663.
Rajendra TK, Gonsalvez GB, Walker MP, Shpargel KB, Salz HK, Matera AG. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol. 2007 Mar 12;176(6):831-41. doi: 10.1083/jcb.200610053. PubMed PMID: 17353360; PubMed Central PMCID: PMC2064057.
Shpargel KB, Jalabi W, Jin Y, Dadabayev A, Penn MS, Trapp BD. Preconditioning paradigms and pathways in the brain. Cleve Clin J Med. 2008 Mar;75 Suppl 2:S77-82. doi: 10.3949/ccjm.75.suppl_2.s77. Review. PubMed PMID: 18540152.
Shpargel KB, Praveen K, Rajendra TK, Matera AG. Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Mol Biol Cell. 2009 Jan;20(1):90-101. doi: 10.1091/mbc.e08-01-0024. Epub 2008 Oct 15. PubMed PMID: 18923150; PubMed Central PMCID: PMC2613097.
Kurima K, Hertzano R, Gavrilova O, Monahan K, Shpargel KB, Nadaraja G, Kawashima Y, Lee KY, Ito T, Higashi Y, Eisenman DJ, Strome SE, Griffith AJ. A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler mice. PLoS Genet. 2011 Sep;7(9):e1002307. doi: 10.1371/journal.pgen.1002307. Epub 2011 Sep 29. PubMed PMID: 21980308; PubMed Central PMCID: PMC3183090.
Chen Z, Jalabi W, Shpargel KB, Farabaugh KT, Dutta R, Yin X, Kidd GJ, Bergmann CC, Stohlman SA, Trapp BD. Lipopolysaccharide-induced microglial activation and neuroprotection against experimental brain injury is independent of hematogenous TLR4. J Neurosci. 2012 Aug 22;32(34):11706-15. doi: 10.1523/JNEUROSCI.0730-12.2012. PubMed PMID: 22915113; PubMed Central PMCID: PMC4461442.
Shpargel KB, Sengoku T, Yokoyama S, Magnuson T. UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS Genet. 2012 Sep;8(9):e1002964. doi: 10.1371/journal.pgen.1002964. Epub 2012 Sep 27. PubMed PMID: 23028370; PubMed Central PMCID: PMC3459986.
Shpargel KB, Starmer J, Yee D, Pohlers M, Magnuson T. KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development. PLoS Genet. 2014 Aug;10(8):e1004507. doi: 10.1371/journal.pgen.1004507. eCollection 2014 Aug. PubMed PMID: 25101834; PubMed Central PMCID: PMC4125042.
Shi X, Zhang Z, Zhan X, Cao M, Satoh T, Akira S, Shpargel K, Magnuson T, Li Q, Wang R, Wang C, Ge K, Wu J. An epigenetic switch induced by Shh signalling regulates gene activation during development and medulloblastoma growth. Nat Commun. 2014 Nov 5;5:5425. doi: 10.1038/ncomms6425. PubMed PMID: 25370275; PubMed Central PMCID: PMC5232137.
Cook KD, Shpargel KB, Starmer J, Whitfield-Larry F, Conley B, Allard DE, Rager JE, Fry RC, Davenport ML, Magnuson T, Whitmire JK, Su MA. T Follicular Helper Cell-Dependent Clearance of a Persistent Virus Infection Requires T Cell Expression of the Histone Demethylase UTX. Immunity. 2015 Oct 20;43(4):703-14. doi: 10.1016/j.immuni.2015.09.002. Epub 2015 Sep 29. PubMed PMID: 26431949; PubMed Central PMCID: PMC4731234.
Shpargel KB, Starmer J, Wang C, Ge K, Magnuson T. UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E9046-E9055. doi: 10.1073/pnas.1705011114. Epub 2017 Oct 9. PubMed PMID: 29073101; PubMed Central PMCID: PMC5664495.
Wijayatunge R, Liu F, Shpargel KB, Wayne NJ, Chan U, Boua JV, Magnuson T, West AE. The histone demethylase Kdm6b regulates a mature gene expression program in differentiating cerebellar granule neurons. Mol Cell Neurosci. 2018 Mar;87:4-17. doi: 10.1016/j.mcn.2017.11.005. Epub 2017 Dec 15. Review. PubMed PMID: 29254825; PubMed Central PMCID: PMC5828961.
Kalisz M, Bernardo E, Beucher A, Maestro MA, Del Pozo N, Millán I, Haeberle L, Schlensog M, Safi SA, Knoefel WT, Grau V, de Vas M, Shpargel KB, Vaquero E, Magnuson T, Ortega S, Esposito I, Real FX, Ferrer J. HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer. EMBO J. 2020 May 4;39(9):e102808. doi: 10.15252/embj.2019102808. Epub 2020 Mar 10. PubMed PMID: 32154941; PubMed Central PMCID: PMC7196917.
Shpargel KB, Mangini CL, Xie G, Ge K, Magnuson T. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology. Development. 2020 Jul 17;147(21). doi: 10.1242/dev.187997. PubMed PMID: 32541010; PubMed Central PMCID: PMC7375479.
Mitchell JE, Lund MM, Starmer J, Ge K, Magnuson T, Shpargel KB, Whitmire JK. UTX promotes CD8(+) T cell-mediated antiviral defenses but reduces T cell durability. Cell Rep. 2021 Apr 13;35(2):108966. doi: 10.1016/j.celrep.2021.108966. PubMed PMID: 33852868; PubMed Central PMCID: PMC8112613.
Shi W, Sheng X, Dorr KM, Hutton JE, Emerson JI, Davies HA, Andrade TD, Wasson LK, Greco TM, Hashimoto Y, Federspiel JD, Robbe ZL, Chen X, Arnold AP, Cristea IM, Conlon FL. Cardiac proteomics reveals sex chromosome-dependent differences between males and females that arise prior to gonad formation. Dev Cell. 2021 Nov 8;56(21):3019-3034.e7. doi: 10.1016/j.devcel.2021.09.022. Epub 2021 Oct 15. PubMed PMID: 34655525; PubMed Central PMCID: PMC9290207.
Robbe ZL, Shi W, Wasson LK, Scialdone AP, Wilczewski CM, Sheng X, Hepperla AJ, Akerberg BN, Pu WT, Cristea IM, Davis IJ, Conlon FL. CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart. Genes Dev. 2022 Apr 1;36(7-8):468-482. doi: 10.1101/gad.349154.121. Epub 2022 Apr 21. PubMed PMID: 35450884; PubMed Central PMCID: PMC9067406.
Edwards W, Greco TM, Miner GE, Barker NK, Herring L, Cohen S, Cristea IM, Conlon FL. Quantitative proteomic profiling identifies global protein network dynamics in murine embryonic heart development. Dev Cell. 2023 Jun 19;58(12):1087-1105.e4. doi: 10.1016/j.devcel.2023.04.011. Epub 2023 May 5. PubMed PMID: 37148880; PubMed Central PMCID: PMC10330608.
Shi W, Scialdone AP, Emerson JI, Mei L, Wasson LK, Davies HA, Seidman CE, Seidman JG, Cook JG, Conlon FL. Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1. Circ Res. 2023 Jun 23;133(1):48-67. doi: 10.1161/CIRCRESAHA.122.322223. Epub 2023 May 31. PubMed PMID: 37254794; PubMed Central PMCID: PMC10284140.
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