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Items: 1 to 20 of 29

1.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

Duncker T, Tsang SH, Woods RL, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3159-70. doi: 10.1167/iovs.14-16343.

2.

Roles and potential clinical applications of intermediate filament proteins in brain tumors.

Quick Q, Paul M, Skalli O.

Semin Pediatr Neurol. 2015 Mar;22(1):40-8. doi: 10.1016/j.spen.2014.12.005. Epub 2014 Dec 11. Review.

PMID:
25976260
3.

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP.

JAMA Ophthalmol. 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115.

PMID:
25675413
4.

Novel localization of peripherin 2, the photoreceptor-specific retinal degeneration slow protein, in retinal pigment epithelium.

Uhl PB, Amann B, Hauck SM, Deeg CA.

Int J Mol Sci. 2015 Jan 26;16(2):2678-92. doi: 10.3390/ijms16022678.

5.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP.

Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5.

PMID:
25447119
6.

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Johnson-Kerner BL, Ahmad FS, Diaz AG, Greene JP, Gray SJ, Samulski RJ, Chung WK, Van Coster R, Maertens P, Noggle SA, Henderson CE, Wichterle H.

Hum Mol Genet. 2015 Mar 1;24(5):1420-31. doi: 10.1093/hmg/ddu556. Epub 2014 Nov 4.

PMID:
25398950
7.

A two-hybrid screen identifies an unconventional role for the intermediate filament peripherin in regulating the subcellular distribution of the SNAP25-interacting protein, SIP30.

Gentil BJ, McLean JR, Xiao S, Zhao B, Durham HD, Robertson J.

J Neurochem. 2014 Dec;131(5):588-601. doi: 10.1111/jnc.12928. Epub 2014 Sep 4.

8.

Β-carotene inhibits neuroblastoma tumorigenesis by regulating cell differentiation and cancer cell stemness.

Lim JY, Kim YS, Kim KM, Min SJ, Kim Y.

Biochem Biophys Res Commun. 2014 Aug 8;450(4):1475-80. doi: 10.1016/j.bbrc.2014.07.021. Epub 2014 Jul 11.

PMID:
25019987
9.

ALS-associated peripherin spliced transcripts form distinct protein inclusions that are neuroprotective against oxidative stress.

McLean JR, Smith GA, Rocha EM, Osborn TM, Dib S, Hayes MA, Beagan JA, Brown TB, Lawson TF, Hallett PJ, Robertson J, Isacson O.

Exp Neurol. 2014 Nov;261:217-29. doi: 10.1016/j.expneurol.2014.05.024. Epub 2014 Jun 4.

PMID:
24907400
10.

Genetic Addiction Risk Score (GARS): molecular neurogenetic evidence for predisposition to Reward Deficiency Syndrome (RDS).

Blum K, Oscar-Berman M, Demetrovics Z, Barh D, Gold MS.

Mol Neurobiol. 2014 Dec;50(3):765-96. doi: 10.1007/s12035-014-8726-5. Epub 2014 May 31.

11.

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.

Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Aslanidis A, Fauser S, Boesl MR, Nagel-Wolfrum K, Tamm ER, Jägle H, Stoehr H, Wolfrum U, Langmann T.

Hum Mol Genet. 2014 Oct 1;23(19):5197-210. doi: 10.1093/hmg/ddu242. Epub 2014 May 15.

12.

Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.

Conley SM, Stuck MW, Burnett JL, Chakraborty D, Azadi S, Fliesler SJ, Naash MI.

Hum Mol Genet. 2014 Jun 15;23(12):3102-14. doi: 10.1093/hmg/ddu014. Epub 2014 Jan 25.

13.

Characterization of neuronal populations in the human trigeminal ganglion and their association with latent herpes simplex virus-1 infection.

Flowerdew SE, Wick D, Himmelein S, Horn AK, Sinicina I, Strupp M, Brandt T, Theil D, Hüfner K.

PLoS One. 2013 Dec 19;8(12):e83603. doi: 10.1371/journal.pone.0083603. eCollection 2013.

14.

Genome-wide methylation analysis and epigenetic unmasking identify tumor suppressor genes in hepatocellular carcinoma.

Revill K, Wang T, Lachenmayer A, Kojima K, Harrington A, Li J, Hoshida Y, Llovet JM, Powers S.

Gastroenterology. 2013 Dec;145(6):1424-35.e1-25. doi: 10.1053/j.gastro.2013.08.055. Epub 2013 Sep 5.

15.

Expression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous system.

Zhang Y, Bitner D, Pontes Filho AA, Li F, Liu S, Wang H, Yang F, Adhikari S, Gordon J, Srinivasan S, Hu W.

Neurogastroenterol Motil. 2014 Jan;26(1):77-97. doi: 10.1111/nmo.12234. Epub 2013 Sep 9.

16.

Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesis.

Khattree N, Ritter LM, Goldberg AF.

J Cell Sci. 2013 Oct 15;126(Pt 20):4659-70. doi: 10.1242/jcs.126888. Epub 2013 Jul 25.

17.

The inside tract: what RDs need to know about the gut microbiome.

Peregrin T.

J Acad Nutr Diet. 2013 Aug;113(8):1019-23. doi: 10.1016/j.jand.2013.05.017. No abstract available.

PMID:
23885699
18.

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

Mahammad S, Murthy SN, Didonna A, Grin B, Israeli E, Perrot R, Bomont P, Julien JP, Kuczmarski E, Opal P, Goldman RD.

J Clin Invest. 2013 May;123(5):1964-75. doi: 10.1172/JCI66387. Epub 2013 Apr 15.

19.

Mesenchymal stem cells from trabecular meshwork become photoreceptor-like cells on amniotic membrane.

Nadri S, Yazdani S, Arefian E, Gohari Z, Eslaminejad MB, Kazemi B, Soleimani M.

Neurosci Lett. 2013 Apr 29;541:43-8. doi: 10.1016/j.neulet.2012.12.055. Epub 2013 Feb 8.

PMID:
23403103
20.

Identification and cytoprotective function of a novel nestin isoform, Nes-S, in dorsal root ganglia neurons.

Su PH, Chen CC, Chang YF, Wong ZR, Chang KW, Huang BM, Yang HY.

J Biol Chem. 2013 Mar 22;288(12):8391-404. doi: 10.1074/jbc.M112.408179. Epub 2013 Jan 14.

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