المؤلفون: Yuet‐Kin Leung, Sung‐Gwon Lee, Jiang Wang, Ponmari Guruvaiah, Nancy J Rusch, Shuk‐Mei Ho, Chungoo Park, Kyounghyun Kim

المصدر: Advanced Science, Vol 11, Iss 29, Pp n/a-n/a (2024)

مصطلحات موضوعية: epigenetics, hepatocellular carcinoma, NR2E3, nuclear receptors, β‐catenin, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2198-3844

URL الوصول: https://doaj.org/article/615de532653f4dd2b82fcc5a847c2d85

المؤلفون: Xiaohua Ma, Shiyao Xu, Yaohui Zhou, Qian Zhang, Hao Yang, Bo Wan, Yong Yang, Zhigang Miao, Xingshun Xu

المصدر: Advanced Science, Vol 11, Iss 31, Pp n/a-n/a (2024)

مصطلحات موضوعية: azacyclonal, depression, Nr2e3, synaptic plasticity, Tet2, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2198-3844

URL الوصول: https://doaj.org/article/e8ed1d436d02494d8a600de42e2084c3

المؤلفون: Izarbe Aísa-Marín, Quirze Rovira, Noelia Díaz, Laura Calvo-López, Juan M. Vaquerizas, Gemma Marfany

المصدر: Neurobiology of Disease, Vol 194, Iss , Pp 106463- (2024)

مصطلحات موضوعية: Inherited retinal dystrophies, NR2E3, Photoreceptor differentiation, Retinal development, Single-cell RNA-seq, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124000627; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/4b20d1218f04487b9cb26700edb5e32e

المؤلفون: Moore, Spencer, Skowronska-Krawczyk, Dorota, Chao, Daniel

المصدر: Journal of Clinical Medicine. 9(7)

مصطلحات موضوعية: NR2E3, NRL, gene therapy, homeostasis, mutation agnostic, neuroprotection, optogenetics, regenerative medicine, retinitis pigmentosa, rod cone conversion, rod photoreceptors, transcriptional regulation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5kd5p2vj
https://escholarship.org/content/qt5kd5p2vj/qt5kd5p2vj.pdf

المؤلفون: Sainan Xiao, Zhen Yi, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Ping Lian, Wenmin Sun, Panfeng Wang, Lin Lu, Qingjiong Zhang

المصدر: Genes; Volume 14; Issue 8; Pages: 1525

مصطلحات موضوعية: genotype–phenotype correlation, inherited retinal dystrophy, macular schisis-like change, NR2E3 -associated recessive retinopathy, NR2E3 -associated dominant retinopathy, retinitis pigmentosa

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14081525

الاتاحة: https://doi.org/10.3390/genes14081525

المؤلفون: Maria Toms, Natasha Ward, Mariya Moosajee

المصدر: Genes; Volume 14; Issue 7; Pages: 1325

مصطلحات موضوعية: NR2E3, inherited retinal disease, enhanced S-cone syndrome, retinitis pigmentosa, Goldmann–Favre syndrome, clumped pigmentary retinal degeneration

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14071325

الاتاحة: https://doi.org/10.3390/genes14071325

المؤلفون: Rider, AT, Henning, GB, Stockman, A

المصدر: Progress in Retinal and Eye Research , 87 , Article 101001. (2022)

مصطلحات موضوعية: CFF, Clinical vision, Critical flicker fusion, Flicker acuity, GNAT2, GRM6, GUCA1A, GUCY2D, Gene defects, KCNV2, LRAT, Light adaptation, Linear systems, Molecular loss, NR2E3, OPA1, OPN1LW, OPN1MW, RGS9, RPE65, Temporal processing, Visual psychophysics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135099/1/Clinical%20acuity%20all.pdf; https://discovery.ucl.ac.uk/id/eprint/10135099/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135099/1/Clinical%20acuity%20all.pdf
https://discovery.ucl.ac.uk/id/eprint/10135099/

المؤلفون: Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, de Guimarães, Thales AC, Fujinami-Yokokawa, Yu, Daich Varela, Malena, Pontikos, Nikolas, Kalitzeos, Angelos, Mahroo, Omar A, Webster, Andrew R, Michaelides, Michel

المصدر: Progress in Retinal and Eye Research , Article 101244. (2024) (In press).

مصطلحات موضوعية: ABCA4, AIPL1, ATF6, Achromatopsia, Autosomal dominant drusen, BEST1, Best disease, Bietti crystalline dystrophy, Blue-cone monochromatism, Bornholm Eye Disease, CEP290, CNGA3, CNGB3, CRB1, CYP4V2, Cone-rod dystrophies, EFEMP1, Early-onset severe retinal dystrophy, Enhanced S-cone syndrome, FAF, GNAT2, GUCA1A, GUCY2D, LCA, Leber congenital amaurosis, NMNAT1, rod-cone dystrophies, NR2E3, OCT, OPN1LW/OPN1MW

Relation: https://discovery.ucl.ac.uk/id/eprint/10186523/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186523/

المؤلفون: Stockman, A, Henning, GB, Rider, AT

المصدر: Progress in Retinal and Eye Research , 83 , Article 100937. (2021)

مصطلحات موضوعية: Visual psychophysics, flicker sensitivity, temporal processing, clinical vision, linear systems, gene defects, molecular loss, light adaptation, GNAT2, RGS9, RPE65, GUCA1A, OPA1, NR2E3, KCNV2

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10118730/7/Stockman_Clinical%20flicker%20all.pdf; https://discovery.ucl.ac.uk/id/eprint/10118730/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10118730/7/Stockman_Clinical%20flicker%20all.pdf
https://discovery.ucl.ac.uk/id/eprint/10118730/

المؤلفون: Michalitsa Diakatou, Gregor Dubois, Nejla Erkilic, Carla Sanjurjo-Soriano, Isabelle Meunier, Vasiliki Kalatzis

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 5; Pages: 2607

مصطلحات موضوعية: inherited retinal dystrophies, autosomal dominant retinitis pigmentosa, rod-cone dystrophy, NR2E3, CRISPR/Cas, photoreceptor, allele-specific, knockout, iPSC, retinal organoids

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22052607

الاتاحة: https://doi.org/10.3390/ijms22052607

المؤلفون: Alessandro Iannaccone, Emily Brabbit, Christiaan Lopez-Miro, Zoe Love, Victoria Griffiths, Marina Kedrov, Neena B. Haider

المصدر: Journal of Clinical Medicine; Volume 10; Issue 3; Pages: 475

مصطلحات موضوعية: NR2E3, rd7, Enhanced S-Cone Syndrome, retinal degeneration, optical coherence tomography, autofluorescence, imaging, photoreceptor degeneration

وصف الملف: application/pdf

Relation: Ophthalmology; https://dx.doi.org/10.3390/jcm10030475

الاتاحة: https://doi.org/10.3390/jcm10030475

المؤلفون: Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla, Jaume Lillo, Gemma Navarro, Pedro de la Villa, Gemma Marfany

المصدر: Neurobiology of Disease, Vol 146, Iss , Pp 105122- (2020)

مصطلحات موضوعية: Nr2e3, CRISPR, Cas9D10A nickase, Retinitis pigmentosa, Enhanced S-cone syndrome, Inherited retinal dystrophies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120303971; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/ea26a9e5223047c198eb898888dd2fef

المؤلفون: Izarbe Aísa-Marín, M. José López-Iniesta, Gemma Marfany

المصدر: Data in Brief, Vol 33, Iss , Pp 106447- (2020)

مصطلحات موضوعية: Nr2e3, CRISPR, Cas9 D10A nickase, Mouse models, Inherited retinal dystrophies, Retinitis pigmentosa, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352340920313299; https://doaj.org/toc/2352-3409

URL الوصول: https://doaj.org/article/4f6a672506b849f0a2236aba72ef48c8

المؤلفون: Udar, Nitin, Small, Kent, Chalukya, Meenal, Silva-Garcia, Rosamaria, Marmor, Michael

المصدر: Molecular Vision. 17

مصطلحات موضوعية: nuclear receptor nr2e3, dominant retinitis-pigmentosa, goldmann-favre-syndrome, retinal degeneration, night blindness, rod, maculopathy, expression, family, form

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/23d0k570

المؤلفون: Federica Bertoli, Silvia Pignatto, Francesca Rizzetto, Paolo Lanzetta

المصدر: Case Reports in Ophthalmology, Vol 9, Iss 3, Pp 510-515 (2018)

مصطلحات موضوعية: Enhanced S-cone syndrome, Choroidal neovascularization, Ranibizumab, Anti-VEGF, NR2E3, Electroretinogram, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/495743; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/789fc402877445e19b3ad5d15cd3dd32

المؤلفون: Scipio, Matteo Di, Tavares, Erika, Deshmukh, Shriya, Audo, Isabelle, Green-Sanderson, Kit, Zubak, Yuliya, Zine-Eddine, Fayçal, Pearson, Alexander, Vig, Anjali, Tang, Chen Yu, Mollica, Antonio, Karas, Jonathan, Tumber, Anupreet, Yu, Caberry W, Billingsley, Gail, Wilson, Michael D, Zeitz, Christina, Héon, Elise, Vincent, Ajoy

المساهمون: The Hospital for sick children Toronto (SickKids), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU), University College of London London (UCL), Institute of Ophthalmology London, University of Toronto, ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018)

المصدر: ISSN: 0146-0404.

مصطلحات موضوعية: NR2E3, GPR179, CNGB3, RNA splice sites, introns, deep intronic variant, antisense oligonucleotides, enhanced S-cone syndrome, congenital stationary night blindness, color vision defects, achromatopsia, retinal dystrophies, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32881472; hal-02940524; https://hal.sorbonne-universite.fr/hal-02940524; https://hal.sorbonne-universite.fr/hal-02940524/document; https://hal.sorbonne-universite.fr/hal-02940524/file/i1552-5783-61-10-36_1597914299.50704.pdf; PUBMED: 32881472; PUBMEDCENTRAL: PMC7443117

الاتاحة: https://hal.sorbonne-universite.fr/hal-02940524
https://hal.sorbonne-universite.fr/hal-02940524/document
https://hal.sorbonne-universite.fr/hal-02940524/file/i1552-5783-61-10-36_1597914299.50704.pdf
https://doi.org/10.1167/iovs.61.10.36

المؤلفون: Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes

المصدر: Genes; Volume 11; Issue 11; Pages: 1288

مصطلحات موضوعية: NR2E3, inherited retinal degeneration, retinal dystrophy, enhanced S-cone syndrome, autosomal recessive and autosomal dominant retinitis pigmentosa, Goldmann–Favre syndrome, pigmentary clumping, ellipsoid zone

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11111288

الاتاحة: https://doi.org/10.3390/genes11111288

المؤلفون: Spencer M. Moore, Dorota Skowronska-Krawczyk, Daniel L. Chao

المصدر: Journal of Clinical Medicine; Volume 9; Issue 7; Pages: 2224

مصطلحات موضوعية: retinitis pigmentosa, rod photoreceptors, gene therapy, mutation agnostic, optogenetics, regenerative medicine, neuroprotection, transcriptional regulation, NRL, NR2E3, rod cone conversion, homeostasis

وصف الملف: application/pdf

Relation: Ophthalmology; https://dx.doi.org/10.3390/jcm9072224

الاتاحة: https://doi.org/10.3390/jcm9072224

المؤلفون: Alsalamah, Abrar K., Khan, Arif O., Bakar, Abdullah Abu, Schatz, Patrik, Nowilaty, Sawsan R.

المصدر: Ophthalmology Retina. 5(9):918-927

مصطلحات موضوعية: Autosomal recessive NR2E3, Enhanced S-cone syndrome, Goldmann-Favre syndrome, Subretinal fibrosis, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/a16e4008-f7ec-491d-bc43-732c593b8eb5
http://dx.doi.org/10.1016/j.oret.2021.03.014

المؤلفون: Naessens, Sarah, Ruysschaert, Laurien, Lefever, Steve, Coppieters, Frauke, De Baere, Elfride

المصدر: GENES ; ISSN: 2073-4425

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, retinitis pigmentosa, autosomal dominant, NR2E3, G56R, putative dominant negativeeffect, gapmer antisense oligonucleotides, allele-specific knockdown

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8618111; http://hdl.handle.net/1854/LU-8618111; http://dx.doi.org/10.3390/genes10050363; https://biblio.ugent.be/publication/8618111/file/8618112

الاتاحة: https://biblio.ugent.be/publication/8618111
http://hdl.handle.net/1854/LU-8618111
https://doi.org/10.3390/genes10050363
https://biblio.ugent.be/publication/8618111/file/8618112