Bridges RJ - Search Results

1

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.

Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, Kumaramanickavel G, John S, Nancarrow D, Röper K, Weigmann A, Huttner WB, Denton MJ. Maw MA, et al. Among authors: bridges rj. Hum Mol Genet. 2000 Jan 1;9(1):27-34. doi: 10.1093/hmg/9.1.27. Hum Mol Genet. 2000. PMID: 10587575

2

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.

Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, Kumaramanickavel G, Denton M, Badrinath SS. Maw M, et al. Hum Mol Genet. 1996 Dec;5(12):2049-54. doi: 10.1093/hmg/5.12.2049. Hum Mol Genet. 1996. PMID: 8968762

3

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.

Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ. Maw MA, et al. Nat Genet. 1997 Oct;17(2):198-200. doi: 10.1038/ng1097-198. Nat Genet. 1997. PMID: 9326942

4

Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.

Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M. Maw M, et al. Hum Mutat. 1998;Suppl 1:S317-9. doi: 10.1002/humu.1380110199. Hum Mutat. 1998. PMID: 9452120 No abstract available.

5

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Xue X, Mutyam V, Thakerar A, Mobley J, Bridges RJ, Rowe SM, Keeling KM, Bedwell DM. Xue X, et al. Among authors: bridges rj. Hum Mol Genet. 2017 Aug 15;26(16):3116-3129. doi: 10.1093/hmg/ddx196. Hum Mol Genet. 2017. PMID: 28575328 Free PMC article.

6

CFTR modulator theratyping: Current status, gaps and future directions.

Clancy JP, Cotton CU, Donaldson SH, Solomon GM, VanDevanter DR, Boyle MP, Gentzsch M, Nick JA, Illek B, Wallenburg JC, Sorscher EJ, Amaral MD, Beekman JM, Naren AP, Bridges RJ, Thomas PJ, Cutting G, Rowe S, Durmowicz AG, Mense M, Boeck KD, Skach W, Penland C, Joseloff E, Bihler H, Mahoney J, Borowitz D, Tuggle KL. Clancy JP, et al. Among authors: bridges rj. J Cyst Fibros. 2019 Jan;18(1):22-34. doi: 10.1016/j.jcf.2018.05.004. Epub 2018 Jun 20. J Cyst Fibros. 2019. PMID: 29934203 Free PMC article. Review.

7

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR. Raraigh KS, et al. Among authors: bridges rj. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.

8

Synonymous codon usage affects the expression of wild type and F508del CFTR.

Shah K, Cheng Y, Hahn B, Bridges R, Bradbury NA, Mueller DM. Shah K, et al. J Mol Biol. 2015 Mar 27;427(6 Pt B):1464-1479. doi: 10.1016/j.jmb.2015.02.003. Epub 2015 Feb 10. J Mol Biol. 2015. PMID: 25676312 Free PMC article.

9

Sphingomyelinase decreases transepithelial anion secretion in airway epithelial cells in part by inhibiting CFTR-mediated apical conductance.

Cottrill KA, Peterson RJ, Lewallen CF, Koval M, Bridges RJ, McCarty NA. Cottrill KA, et al. Among authors: bridges rj. Physiol Rep. 2021 Aug;9(15):e14928. doi: 10.14814/phy2.14928. Physiol Rep. 2021. PMID: 34382377 Free PMC article.

10

Mechanistic analysis and significance of sphingomyelinase-mediated decreases in transepithelial CFTR currents in nHBEs.

Cottrill KA, Giacalone VD, Margaroli C, Bridges RJ, Koval M, Tirouvanziam R, McCarty NA. Cottrill KA, et al. Among authors: bridges rj. Physiol Rep. 2021 Sep;9(17):e15023. doi: 10.14814/phy2.15023. Physiol Rep. 2021. PMID: 34514718 Free PMC article.

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