Nishimura D - Search Results

1

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Jacobson N, et al. Among authors: nishimura d. Hum Mol Genet. 2001 Jan 15;10(2):117-25. doi: 10.1093/hmg/10.2.117. Hum Mol Genet. 2001. PMID: 11152659

2

Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR.

Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishimura DY, Stone EM, Sheffield VC, Clark AF. Wang WH, et al. Among authors: nishimura dy. Mol Vis. 2001 Apr 17;7:89-94. Mol Vis. 2001. PMID: 11320352 Free article.

3

Identification of a gene that causes primary open angle glaucoma.

Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Stone EM, et al. Among authors: nishimura d. Science. 1997 Jan 31;275(5300):668-70. doi: 10.1126/science.275.5300.668. Science. 1997. PMID: 9005853

4

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. Nishimura DY, et al. Am J Hum Genet. 2001 Feb;68(2):364-72. doi: 10.1086/318183. Epub 2001 Jan 18. Am J Hum Genet. 2001. PMID: 11170889 Free PMC article.

5

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.

Borges AS, Susanna R Jr, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. Borges AS, et al. J Glaucoma. 2002 Feb;11(1):51-6. doi: 10.1097/00061198-200202000-00010. J Glaucoma. 2002. PMID: 11821690

6

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Among authors: nishimura dy. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095

7

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Nishimura DY, et al. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398886 Free PMC article.

8

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Zode GS, et al. Among authors: nishimura dy. J Clin Invest. 2011 Sep;121(9):3542-53. doi: 10.1172/JCI58183. Epub 2011 Aug 8. J Clin Invest. 2011. PMID: 21821918 Free PMC article.

9

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. Nishimura DY, et al. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769

10

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

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