Towne CF - Search Results

1

Analysis of the role of bleomycin hydrolase in antigen presentation and the generation of CD8 T cell responses.

Towne CF, York IA, Watkin LB, Lazo JS, Rock KL. Towne CF, et al. J Immunol. 2007 Jun 1;178(11):6923-30. doi: 10.4049/jimmunol.178.11.6923. J Immunol. 2007. PMID: 17513741

2

Leucine aminopeptidase is not essential for trimming peptides in the cytosol or generating epitopes for MHC class I antigen presentation.

Towne CF, York IA, Neijssen J, Karow ML, Murphy AJ, Valenzuela DM, Yancopoulos GD, Neefjes JJ, Rock KL. Towne CF, et al. J Immunol. 2005 Nov 15;175(10):6605-14. doi: 10.4049/jimmunol.175.10.6605. J Immunol. 2005. PMID: 16272315

3

Endoplasmic reticulum aminopeptidase 1 (ERAP1) trims MHC class I-presented peptides in vivo and plays an important role in immunodominance.

York IA, Brehm MA, Zendzian S, Towne CF, Rock KL. York IA, et al. Among authors: towne cf. Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9202-7. doi: 10.1073/pnas.0603095103. Epub 2006 Jun 5. Proc Natl Acad Sci U S A. 2006. PMID: 16754858 Free PMC article.

4

Puromycin-sensitive aminopeptidase limits MHC class I presentation in dendritic cells but does not affect CD8 T cell responses during viral infections.

Towne CF, York IA, Neijssen J, Karow ML, Murphy AJ, Valenzuela DM, Yancopoulos GD, Neefjes JJ, Rock KL. Towne CF, et al. J Immunol. 2008 Feb 1;180(3):1704-12. doi: 10.4049/jimmunol.180.3.1704. J Immunol. 2008. PMID: 18209067

5

Next-generation carrier screening.

Umbarger MA, Kennedy CJ, Saunders P, Breton B, Chennagiri N, Emhoff J, Greger V, Hallam S, Maganzini D, Micale C, Nizzari MM, Towne CF, Church GM, Porreca GJ. Umbarger MA, et al. Among authors: towne cf. Genet Med. 2014 Feb;16(2):132-40. doi: 10.1038/gim.2013.83. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765052 Free PMC article.

6

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, Bishop B, Saunders P, Porreca GJ, Schienda J, Davie J, Hallam S, Towne C. Hoffman JD, et al. Mol Genet Genomic Med. 2013 Nov;1(4):260-8. doi: 10.1002/mgg3.37. Epub 2013 Sep 16. Mol Genet Genomic Med. 2013. PMID: 24498621 Free PMC article.

7

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Boone PM, et al. Among authors: towne cf. Genet Med. 2011 Jun;13(6):582-92. doi: 10.1097/GIM.0b013e3182106775. Genet Med. 2011. PMID: 21659953 Free PMC article.

8

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: towne cf. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.

9

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. Zhang F, et al. Among authors: towne cf. Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21. Nat Genet. 2009. PMID: 19543269 Free PMC article.

10

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.

Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: towne cf. Neurogenetics. 2010 Oct;11(4):465-70. doi: 10.1007/s10048-010-0247-4. Epub 2010 Jun 9. Neurogenetics. 2010. PMID: 20532933 Free PMC article.

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