| Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa. | Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.
Occelli LM, Zobel L, Stoddard J, Wagner J, Pasmanter N, Querubin J, Renner LM, Reynaga R, Winkler PA, Sun K, Marinho LFLP, O'Riordan CR, Frederick A, Lauer A, Tsang SH, Hauswirth WW, McGill TJ, Neuringer M, Michalakis S, Petersen-Jones SM., Free PMC Article | 07/24/2023 |
| Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map. | Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.
Barret DCA, Schertler GFX, Kaupp UB, Marino J. | 05/7/2022 |
| CNGB1-related rod-cone dystrophy: A mutation review and update. | CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I., Free PMC Article | 01/29/2022 |
| Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases. | Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
Mauro-Herrera M, Chiang J, Radojevic B, Bennett LD., Free PMC Article | 01/15/2022 |
| Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1. | Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.
Radojevic B, Jones K, Klein M, Mauro-Herrera M, Kingsley R, Birch DG, Bennett LD., Free PMC Article | 09/4/2021 |
| Mutations in CNGB1 may cause an autosomal recessive retinitis pigmentosa-olfactory dysfunction syndrome characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia. | Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T., Free PMC Article | 09/28/2019 |
| The c.385delC (p.(L129WfsTer148)) mutation in the CNGB1 gene screened by exome sequencing is probably responsible for the retinitis pigmentosa phenotype in this family. | Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q, Guo Y, Cao Y, Xiong W, Deng X, Xu H, Li Y, Du D, Deng H. | 09/28/2019 |
| Patients and animal models of CNGbeta1-deficient retinitis pigmentosa support gene augmentation approach. | Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH., Free PMC Article | 05/11/2019 |
| Here, we present the first case of RP45 caused by an unequivocal homozygous nonsense variant of CNGB1 identified by run of homozygosity (ROH) analysis. | Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D. | 11/18/2017 |
| Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP, and FoxP3+Helios+ Tregs have more suppressive characteristics, compared with FoxP3+Helios- Tregs. | Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP.
Elkord E, Abd Al Samid M, Chaudhary B., Free PMC Article | 07/16/2016 |
| GARP2 expression in cones can be detrimental to cones. RDS/GARP interactions remain under investigation but are critical for both OS structure and function. | Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.
Chakraborty D, Conley SM, DeRamus ML, Pittler SJ, Naash MI., Free PMC Article | 04/30/2016 |
| The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry. | The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism.
Gibriel AA, Tate RJ, Yu Y, Rawson-Lax E, Hammer HM, Tettey JN, Pyne NJ, Converse CA. | 10/28/2013 |
| Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact in a transgenic model. | Channel modulation and the mechanism of light adaptation in mouse rods.
Chen J, Woodruff ML, Wang T, Concepcion FA, Tranchina D, Fain GL., Free PMC Article | 01/8/2011 |
| Observational study of genetic testing. (HuGE Navigator) | See all PubMed (2) articlesSimultaneous 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. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA. | 09/15/2010 |
| When expressed in a heterologous expression system the corresponding mutant full-length CNGB1a subunit was more susceptible to proteosomal degradation compared to the wild-type counterpart | The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.
Becirovic E, Nakova K, Hammelmann V, Hennel R, Biel M, Michalakis S., Free PMC Article | 05/31/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| we report targeting of cyclic nucleotide-gated channel(CNG) to rod outer segment required interaction with ankyrin-G; ankyrin-G localized to rod outer segments, coimmunoprecipitated with CNG channel & bound to C-terminal domain of channel beta1 subunit | Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia.
Kizhatil K, Baker SA, Arshavsky VY, Bennett V., Free PMC Article | 01/21/2010 |