| Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. | Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
El-Asrag ME, Corton M, McKibbin M, Avila-Fernandez A, Mohamed MD, Blanco-Kelly F, Toomes C, Inglehearn CF, Ayuso C, Ali M., Free PMC Article | 06/18/2022 |
| NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors. | NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
Cuevas E, Holder DL, Alshehri AH, Tréguier J, Lakowski J, Sowden JC., Free PMC Article | 12/4/2021 |
| Investigating cone photoreceptor development using patient-derived NRL null retinal organoids. | Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
Kallman A, Capowski EE, Wang J, Kaushik AM, Jansen AD, Edwards KL, Chen L, Berlinicke CA, Joseph Phillips M, Pierce EA, Qian J, Wang TH, Gamm DM, Zack DJ., Free PMC Article | 06/19/2021 |
| that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup | NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.
Garancher A, Lin CY, Morabito M, Richer W, Rocques N, Larcher M, Bihannic L, Smith K, Miquel C, Leboucher S, Herath NI, Dupuy F, Varlet P, Haberler C, Walczak C, El Tayara N, Volk A, Puget S, Doz F, Delattre O, Druillennec S, Ayrault O, Wechsler-Reya RJ, Eychène A, Bourdeaut F, Northcott PA, Pouponnot C., Free PMC Article | 12/22/2018 |
| We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa. | Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.
Qin Y, Liu F, Yu S, Yang L, Gao M, Tang Z, Guo AY, Zhang M, Li P, Liu M., Free PMC Article | 05/12/2018 |
| investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD) | Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Braverman I, Blumen SC, Newman H, Rizel L, Khayat M, Hanna R, St Guily JL, Tiosano B, Ben-Yosef T. | 11/11/2017 |
| This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype. | Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Newman H, Blumen SC, Braverman I, Hanna R, Tiosano B, Perlman I, Ben-Yosef T. | 05/27/2017 |
| The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family. | Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao M, Zhang S, Liu C, Qin Y, Archacki S, Jin L, Wang Y, Liu F, Chen J, Liu Y, Wang J, Huang M, Liao S, Tang Z, Guo AY, Jiang F, Liu M., Free PMC Article | 11/12/2016 |
| In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation. | Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi MJ, Delás B, Carballo M. | 06/7/2014 |
| This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa. | Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
Hernan I, Gamundi MJ, Borràs E, Maseras M, García-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M. | 03/23/2013 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis. | Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.
Roger JE, Nellissery J, Kim DS, Swaroop A., Free PMC Article | 09/6/2010 |
| In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. | Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP, Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP. | 05/3/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP, Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP. | 01/20/2010 |
| The disease caused by NRL mutations found in this study appears to be more severe | Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP. | 01/21/2010 |
| The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity. | Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. | 01/21/2010 |
| the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina | Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.
Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A. | 01/21/2010 |
| signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination | Retinoic acid regulates the expression of photoreceptor transcription factor NRL.
Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A., Free PMC Article | 01/21/2010 |
| Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. | Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. | 01/21/2010 |
| both Nrl and Crx are required for full transcriptional activity of the PDE6A gene | Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB. | 01/21/2010 |
| the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes | The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.
Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A. | 01/21/2010 |
| an unusual clinical phenotype in humans with loss-of-function mutations in NRL | Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP., Free PMC Article | 01/21/2010 |
| Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity. | Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. | 01/21/2010 |
| Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome | Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. | 01/21/2010 |
| six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina. | Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.
Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A. | 10/17/2001 |