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Items: 1 to 20 of 82

1.

Effects of trans-resveratrol on type 1 diabetes-induced inhibition of retinoic acid metabolism pathway in retinal pigment epithelium of Dark Agouti rats.

Al-Hussaini H, Kilarkaje N.

Eur J Pharmacol. 2018 Jul 18. pii: S0014-2999(18)30395-9. doi: 10.1016/j.ejphar.2018.07.028. [Epub ahead of print]

PMID:
30030988
2.

Rhythmic Diurnal Synthesis and Signaling of Retinoic Acid in the Rat Pineal Gland and Its Action to Rapidly Downregulate ERK Phosphorylation.

Ashton A, Stoney PN, Ransom J, McCaffery P.

Mol Neurobiol. 2018 Mar 8. doi: 10.1007/s12035-018-0964-5. [Epub ahead of print]

PMID:
29520716
3.

Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology.

Siddiqah IM, Manandhar SP, Cocca SM, Hsueh T, Cervantes V, Gharakhanian E.

Curr Genet. 2017 Dec;63(6):1053-1072. doi: 10.1007/s00294-017-0702-y. Epub 2017 May 24.

4.

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Garg A, Lee W, Sengillo JD, Allikmets R, Garg K, Tsang SH.

Ophthalmic Genet. 2017 Dec;38(6):575-579. doi: 10.1080/13816810.2017.1323339. Epub 2017 May 17.

PMID:
28513254
6.

Reprogramming of the retinoic acid pathway in decidualizing human endometrial stromal cells.

Ozaki R, Kuroda K, Ikemoto Y, Ochiai A, Matsumoto A, Kumakiri J, Kitade M, Itakura A, Muter J, Brosens JJ, Takeda S.

PLoS One. 2017 Mar 2;12(3):e0173035. doi: 10.1371/journal.pone.0173035. eCollection 2017.

7.

Stargardt disease-associated mutation spectrum of a Russian Federation cohort.

Zolnikova IV, Strelnikov VV, Skvortsova NA, Tanas AS, Barh D, Rogatina EV, Egorova IV, Levina DV, Demenkova ON, Prikaziuk EG, Ivanova ME.

Eur J Med Genet. 2017 Feb;60(2):140-147. doi: 10.1016/j.ejmg.2016.12.002. Epub 2016 Dec 9.

PMID:
27939946
8.

Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.

Hofmann L, Tsybovsky Y, Alexander NS, Babino D, Leung NY, Montell C, Banerjee S, von Lintig J, Palczewski K.

Biochemistry. 2016 Nov 29;55(47):6545-6557. Epub 2016 Nov 16.

9.

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.

Sundaramurthy S, Swaminathan M, Sen P, Arokiasamy T, Deshpande S, John N, Gadkari RA, Mannan AU, Soumittra N.

J Hum Genet. 2016 Nov;61(11):951-958. doi: 10.1038/jhg.2016.83. Epub 2016 Jul 7.

PMID:
27383656
10.

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, Xu Y, Xin W, Guo X, Zhang Q.

Exp Eye Res. 2016 May;146:252-8. doi: 10.1016/j.exer.2016.03.015. Epub 2016 Mar 16.

PMID:
26992781
11.

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].

Chebil A, Falfoul Y, Habibi I, Munier F, Schorderet D, El Matri L.

J Fr Ophtalmol. 2016 Mar;39(3):277-86. doi: 10.1016/j.jfo.2015.08.013. Epub 2016 Feb 9. French.

12.

Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.

Xin W, Xiao X, Li S, Zhang Q.

Ophthalmic Genet. 2016 Sep;37(3):345-8. doi: 10.3109/13816810.2015.1059457. Epub 2016 Feb 5. No abstract available.

PMID:
26848971
13.

Elevation deficiency in children with recessive RDH12-related retinopathy.

AlBakri A, Alkuraya FS, Khan AO.

J AAPOS. 2015 Dec;19(6):568-70. doi: 10.1016/j.jaapos.2015.07.281.

PMID:
26691045
14.

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.

Arch Iran Med. 2015 Nov;18(11):776-85. doi: 0151811/AIM.009.

15.

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.

PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679. eCollection 2015.

16.

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.

Gong B, Wei B, Huang L, Hao J, Li X, Yang Y, Zhou Y, Hao F, Cui Z, Zhang D, Wang L, Zhang H.

J Ophthalmol. 2015;2015:942740. doi: 10.1155/2015/942740. Epub 2015 Jun 1.

17.

[Genotype-phenotype correlation in patients with PRPH2-mutations].

Maertz J, Gloeckle N, Nentwich MM, Rudolph G.

Klin Monbl Augenheilkd. 2015 Mar;232(3):266-74. doi: 10.1055/s-0035-1545702. Epub 2015 Mar 24. German.

PMID:
25803555
18.

Transcriptome profiling of the cancer and adjacent nontumor tissues from cervical squamous cell carcinoma patients by RNA sequencing.

Peng G, Dan W, Jun W, Junjun Y, Tong R, Baoli Z, Yang X.

Tumour Biol. 2015 May;36(5):3309-17. doi: 10.1007/s13277-014-2963-0. Epub 2015 Jan 14.

PMID:
25586346
19.

Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice.

Dellett M, Sasai N, Nishide K, Becker S, Papadaki V, Limb GA, Moore AT, Kondo T, Ohnuma S.

Invest Ophthalmol Vis Sci. 2014 Nov 20;56(1):164-76. doi: 10.1167/iovs.14-15479.

PMID:
25414197
20.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C.

Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938.

PMID:
25342620

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