Svaren J - Search Results

1

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.

Pantera H, Hu B, Moiseev D, Dunham C, Rashid J, Moran JJ, Krentz K, Rubinstein CD, Won S, Li J, Svaren J. Pantera H, et al. Among authors: svaren j. Hum Mol Genet. 2020 Jun 27;29(10):1689-1699. doi: 10.1093/hmg/ddaa082. Hum Mol Genet. 2020. PMID: 32356557 Free PMC article.

2

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Warner LE, Svaren J, Milbrandt J, Lupski JR. Warner LE, et al. Among authors: svaren j. Hum Mol Genet. 1999 Jul;8(7):1245-51. doi: 10.1093/hmg/8.7.1245. Hum Mol Genet. 1999. PMID: 10369870

3

Regulation of the PMP22 gene through an intronic enhancer.

Jones EA, Lopez-Anido C, Srinivasan R, Krueger C, Chang LW, Nagarajan R, Svaren J. Jones EA, et al. Among authors: svaren j. J Neurosci. 2011 Mar 16;31(11):4242-50. doi: 10.1523/JNEUROSCI.5893-10.2011. J Neurosci. 2011. PMID: 21411665 Free PMC article.

4

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.

Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J. Jones EA, et al. Among authors: svaren j. Hum Mol Genet. 2012 Apr 1;21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15. Hum Mol Genet. 2012. PMID: 22180461 Free PMC article.

5

Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve.

Srinivasan R, Sun G, Keles S, Jones EA, Jang SW, Krueger C, Moran JJ, Svaren J. Srinivasan R, et al. Among authors: svaren j. Nucleic Acids Res. 2012 Aug;40(14):6449-60. doi: 10.1093/nar/gks313. Epub 2012 Apr 9. Nucleic Acids Res. 2012. PMID: 22492709 Free PMC article.

6

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Brewer MH, et al. Among authors: svaren j. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833716 Free PMC article.

7

Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.

Inglese J, Dranchak P, Moran JJ, Jang SW, Srinivasan R, Santiago Y, Zhang L, Guha R, Martinez N, MacArthur R, Cost GJ, Svaren J. Inglese J, et al. Among authors: svaren j. ACS Chem Biol. 2014 Nov 21;9(11):2594-602. doi: 10.1021/cb5005492. Epub 2014 Sep 16. ACS Chem Biol. 2014. PMID: 25188731 Free PMC article.

8

Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.

Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J. Lopez-Anido C, et al. Among authors: svaren j. Hum Mol Genet. 2016 Jul 15;25(14):3055-3069. doi: 10.1093/hmg/ddw158. Epub 2016 Jun 10. Hum Mol Genet. 2016. PMID: 27288457 Free PMC article.

9

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.

Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A. Fogarty EA, et al. Among authors: svaren j. Hum Mol Genet. 2016 Sep 15;25(18):3925-3936. doi: 10.1093/hmg/ddw233. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466180 Free PMC article.

10

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.

Duncan ID, Bugiani M, Radcliff AB, Moran JJ, Lopez-Anido C, Duong P, August BK, Wolf NI, van der Knaap MS, Svaren J. Duncan ID, et al. Among authors: svaren j. Ann Neurol. 2017 May;81(5):690-702. doi: 10.1002/ana.24930. Epub 2017 May 9. Ann Neurol. 2017. PMID: 28393430 Free PMC article.

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