Petrukhin K - Search Results

1

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. Zhang K, et al. Among authors: petrukhin k. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

2

Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.

Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R. Ayyagari R, et al. Among authors: petrukhin k. Ophthalmic Genet. 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219. Ophthalmic Genet. 2001. PMID: 11803489

3

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. Petrukhin K, et al. Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915. Nat Genet. 1998. PMID: 9662395

4

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K. Allikmets R, et al. Among authors: petrukhin k. Hum Genet. 1999 Jun;104(6):449-53. doi: 10.1007/s004390050986. Hum Genet. 1999. PMID: 10453731

5

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.

Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R. Bernstein PS, et al. Among authors: petrukhin k. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3331-6. Invest Ophthalmol Vis Sci. 2001. PMID: 11726641

6

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.

Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N Jr, Petrukhin K, Sieving PA. Raz-Prag D, et al. Among authors: petrukhin k. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3603-11. doi: 10.1167/iovs.05-1527. Invest Ophthalmol Vis Sci. 2006. PMID: 16877435 Free PMC article.

7

Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.

Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R. Seddon JM, et al. Among authors: petrukhin k. Ophthalmology. 2001 Nov;108(11):2060-7. doi: 10.1016/s0161-6420(01)00777-1. Ophthalmology. 2001. PMID: 11713080

8

Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells.

Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey CT, Austin CP. Chen F, et al. Among authors: petrukhin k. Proc Natl Acad Sci U S A. 1999 Dec 21;96(26):15149-54. doi: 10.1073/pnas.96.26.15149. Proc Natl Acad Sci U S A. 1999. PMID: 10611353 Free PMC article.

9

In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.

Mandal NA, Tran JT, Zheng L, Wilkerson JL, Brush RS, McRae J, Agbaga MP, Zhang K, Petrukhin K, Ayyagari R, Anderson RE. Mandal NA, et al. Among authors: petrukhin k. Invest Ophthalmol Vis Sci. 2014 Apr 25;55(4):2705-13. doi: 10.1167/iovs.13-13198. Invest Ophthalmol Vis Sci. 2014. PMID: 24644051 Free PMC article.

10

The mutation spectrum of the bestrophin protein--functional implications.

Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C. Bakall B, et al. Among authors: petrukhin k. Hum Genet. 1999 May;104(5):383-9. doi: 10.1007/s004390050972. Hum Genet. 1999. PMID: 10394929

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