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Items: 11


Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.

Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM MD, Aleman TS, Bennett J.

Br J Ophthalmol. 2019 Jun;103(6):761-767. doi: 10.1136/bjophthalmol-2017-311405. Epub 2018 Jul 20.


Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant L, Lozynska O, Maguire AM, Aleman TS, Bennett J.

Clin Ophthalmol. 2017 Dec 29;12:49-63. doi: 10.2147/OPTH.S147684. eCollection 2018.


On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.

Bryant L, Lozynska O, Han G, Morgan JIW, Gai X, Maguire AM, Aleman T, Bennett J.

Ophthalmic Genet. 2018 Jan-Feb;39(1):144-146. doi: 10.1080/13816810.2017.1354384. Epub 2017 Aug 14.


Translational regulation of utrophin by miRNAs.

Basu U, Lozynska O, Moorwood C, Patel G, Wilton SD, Khurana TS.

PLoS One. 2011;6(12):e29376. doi: 10.1371/journal.pone.0029376. Epub 2011 Dec 27.


Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening.

Moorwood C, Lozynska O, Suri N, Napper AD, Diamond SL, Khurana TS.

PLoS One. 2011;6(10):e26169. doi: 10.1371/journal.pone.0026169. Epub 2011 Oct 20.


C. elegans dysferlin homolog fer-1 is expressed in muscle, and fer-1 mutations initiate altered gene expression of muscle enriched genes.

Krajacic P, Hermanowski J, Lozynska O, Khurana TS, Lamitina T.

Physiol Genomics. 2009 Dec 30;40(1):8-14. doi: 10.1152/physiolgenomics.00106.2009. Epub 2009 Sep 15.


Differential expression of utrophin-A and -B promoters in the central nervous system (CNS) of normal and dystrophic mdx mice.

Baby SM, Bogdanovich S, Willmann G, Basu U, Lozynska O, Khurana TS.

Brain Pathol. 2010 Mar;20(2):323-42. doi: 10.1111/j.1750-3639.2009.00275.x. Epub 2009 May 22.


Heregulin-induced epigenetic regulation of the utrophin-A promoter.

Basu U, Gyrd-Hansen M, Baby SM, Lozynska O, Krag TO, Jensen CJ, Frödin M, Khurana TS.

FEBS Lett. 2007 Sep 4;581(22):4153-8. Epub 2007 Jul 23.


Ets-2 repressor factor silences extrasynaptic utrophin by N-box mediated repression in skeletal muscle.

Perkins KJ, Basu U, Budak MT, Ketterer C, Baby SM, Lozynska O, Lunde JA, Jasmin BJ, Rubinstein NA, Khurana TS.

Mol Biol Cell. 2007 Aug;18(8):2864-72. Epub 2007 May 16.


Layer-specific differences of gene expression in extraocular muscles identified by laser-capture microscopy.

Budak MT, Bogdanovich S, Wiesen MH, Lozynska O, Khurana TS, Rubinstein NA.

Physiol Genomics. 2004 Dec 15;20(1):55-65. Epub 2004 Oct 5.


QSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signaling.

Ai X, Do AT, Lozynska O, Kusche-Gullberg M, Lindahl U, Emerson CP Jr.

J Cell Biol. 2003 Jul 21;162(2):341-51. Epub 2003 Jul 14.

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