Pierce EA - Search Results

1

Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.

Crowley MA, Garland DL, Sellner H, Banks A, Fan L, Rejtar T, Buchanan N, Delgado O, Xu YY, Jose S, Adams CM, Mogi M, Wang K, Bigelow CE, Poor S, Anderson K, Jaffee BD, Prasanna G, Grosskreutz C, Fernandez-Godino R, Pierce EA, Dryja TP, Liao SM. Crowley MA, et al. Among authors: pierce ea. Hum Mol Genet. 2023 Jan 6;32(2):204-217. doi: 10.1093/hmg/ddac187. Hum Mol Genet. 2023. PMID: 35943778 Free PMC article.

2

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Pierce EA, et al. Nat Genet. 1999 Jul;22(3):248-54. doi: 10.1038/10305. Nat Genet. 1999. PMID: 10391211

3

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP. Berson EL, et al. Among authors: pierce ea. Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2217-24. Invest Ophthalmol Vis Sci. 2001. PMID: 11527933

4

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.

Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. Fu L, et al. Among authors: pierce ea. Hum Mol Genet. 2007 Oct 15;16(20):2411-22. doi: 10.1093/hmg/ddm198. Epub 2007 Jul 30. Hum Mol Genet. 2007. PMID: 17666404

5

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.

Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA. Garland DL, et al. Among authors: pierce ea. Hum Mol Genet. 2014 Jan 1;23(1):52-68. doi: 10.1093/hmg/ddt395. Epub 2013 Aug 13. Hum Mol Genet. 2014. PMID: 23943789 Free PMC article.

6

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA. Bujakowska KM, et al. Among authors: pierce ea. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168386 Free PMC article.

7

A local complement response by RPE causes early-stage macular degeneration.

Fernandez-Godino R, Garland DL, Pierce EA. Fernandez-Godino R, et al. Among authors: pierce ea. Hum Mol Genet. 2015 Oct 1;24(19):5555-69. doi: 10.1093/hmg/ddv287. Epub 2015 Jul 21. Hum Mol Genet. 2015. PMID: 26199322 Free PMC article.

8

Extracellular Matrix Alterations and Deposit Formation in AMD.

Fernandez-Godino R, Pierce EA, Garland DL. Fernandez-Godino R, et al. Among authors: pierce ea. Adv Exp Med Biol. 2016;854:53-8. doi: 10.1007/978-3-319-17121-0_8. Adv Exp Med Biol. 2016. PMID: 26427393 Review.

9

Isolation, culture and characterization of primary mouse RPE cells.

Fernandez-Godino R, Garland DL, Pierce EA. Fernandez-Godino R, et al. Among authors: pierce ea. Nat Protoc. 2016 Jul;11(7):1206-18. doi: 10.1038/nprot.2016.065. Epub 2016 Jun 9. Nat Protoc. 2016. PMID: 27281648 Free PMC article.

10

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA. Bujakowska KM, et al. Among authors: pierce ea. Genet Med. 2017 Jun;19(6):643-651. doi: 10.1038/gim.2016.158. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735924 Free PMC article.

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