Gieser LM - Search Results

1

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: gieser lm. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.

2

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.

3

Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa.

Chen Y, Brooks MJ, Gieser L, Swaroop A, Palczewski K. Chen Y, et al. Pharmacol Res. 2017 Jan;115:1-13. doi: 10.1016/j.phrs.2016.10.031. Epub 2016 Nov 9. Pharmacol Res. 2017. PMID: 27838510 Free PMC article.

4

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.

Swaroop M, Brooks MJ, Gieser L, Swaroop A, Zheng W. Swaroop M, et al. Hum Mol Genet. 2018 Oct 15;27(20):3612-3626. doi: 10.1093/hmg/ddy259. Hum Mol Genet. 2018. PMID: 30052969 Free PMC article.

5

Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.

Jiang K, Mondal AK, Adlakha YK, Gumerson J, Aponte A, Gieser L, Kim JW, Boleda A, Brooks MJ, Nellissery J, Fox DA, Balaban R, Covian R, Swaroop A. Jiang K, et al. Hum Mol Genet. 2022 Jul 7;31(13):2137-2154. doi: 10.1093/hmg/ddac013. Hum Mol Genet. 2022. PMID: 35075486 Free PMC article.

6

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A. Fujita R, et al. Am J Hum Genet. 1997 Sep;61(3):571-80. doi: 10.1086/515523. Am J Hum Genet. 1997. PMID: 9326322 Free PMC article.

7

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. Mears AJ, et al. Am J Hum Genet. 2000 Oct;67(4):1000-3. doi: 10.1086/303091. Epub 2000 Sep 1. Am J Hum Genet. 2000. PMID: 10970770 Free PMC article.

8

Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis.

Hao H, Kim DS, Klocke B, Johnson KR, Cui K, Gotoh N, Zang C, Gregorski J, Gieser L, Peng W, Fann Y, Seifert M, Zhao K, Swaroop A. Hao H, et al. PLoS Genet. 2012;8(4):e1002649. doi: 10.1371/journal.pgen.1002649. Epub 2012 Apr 12. PLoS Genet. 2012. PMID: 22511886 Free PMC article.

9

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.

Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A. Ponjavic V, et al. Ophthalmic Genet. 1998 Dec;19(4):187-96. doi: 10.1076/opge.19.4.187.2305. Ophthalmic Genet. 1998. PMID: 9895243

10

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, Chatterjee N, Swaroop A. Ratnapriya R, et al. Nat Genet. 2019 Apr;51(4):606-610. doi: 10.1038/s41588-019-0351-9. Epub 2019 Feb 11. Nat Genet. 2019. PMID: 30742112 Free PMC article.

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