| A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. | A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
Ullah M, Rehman AU, Folcher M, Ullah A, Usman F, Rashid A, Khan B, Quinodoz M, Ansar M, Rivolta C. | 01/11/2024 |
| A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. | A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU., Free PMC Article | 03/28/2023 |
| Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. | Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R., Free PMC Article | 01/7/2023 |
| Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases. | Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases.
Cote RH, Gupta R, Irwin MJ, Wang X., Free PMC Article | 04/2/2022 |
| Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. | Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
Li Y, Li R, Dai H, Li G., Free PMC Article | 01/22/2022 |
| Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. | Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G., Free PMC Article | 11/6/2021 |
| PDE6B Mutation-associated Inherited Retinal Disease. | PDE6B Mutation-associated Inherited Retinal Disease.
Marconi S, Stout JT. | 10/16/2021 |
| Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. | Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S., Free PMC Article | 05/8/2021 |
| Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients. | Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY., Free PMC Article | 05/8/2021 |
| Mutations in PDE6A and PDE6B accounted for 1.6% and 2.4%, respectively, in a cohort of French patients with rod-cone dystrophy (RCD) | Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I., Free PMC Article | 02/22/2020 |
| A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. | A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Tatour Y, Tamaiev J, Shamaly S, Colombo R, Bril E, Rabinowitz T, Yaakobi A, Mezer E, Leibu R, Tiosano B, Shomron N, Chowers I, Banin E, Sharon D, Ben-Yosef T., Free PMC Article | 06/15/2019 |
| Mutation in PDE6B gene is associated with autosomal recessive retinitis pigmentosa disease progression. | Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa.
Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH. | 04/13/2019 |
| A novel PDE6B founder variant is likely to account for 16% of recessive inherited retinal dystrophy in Maori. Careful characterization of the clinical presentation permits identification of further Maori patients with a similar phenotype and simplifies the diagnostic algorithm. | Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Vincent AL, Abeysekera N, van Bysterveldt KA, Oliver VF, Ellingford JM, Barton S, Black GC. | 01/5/2019 |
| Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. | Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. | 10/10/2015 |
| Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family. | Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Shen S, Sujirakul T, Tsang SH., Free PMC Article | 08/15/2015 |
| The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), and phosphodiesterase 6B, which causes nonsyndromic retinitis pigmentosa. | Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T., Free PMC Article | 09/28/2013 |
| analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6 | Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6.
Cahill KB, Quade JH, Carleton KL, Cote RH., Free PMC Article | 02/9/2013 |
| The p.H557Y mutation in PDE6B, was homozygous in four patients and heterozygous in nine patients, and it was the most frequent mutation (2.5%) in Korean patients with retinitis pigmentosa. | Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG., Free PMC Article | 02/2/2013 |
| Data indicate the upregulation of RREB1, PDE6B, and CD209 suggests that these proteins might play important roles in the differentiation of primitive gut tube cells from embryonic stem cells (hESCs) and in primitive gut tube development into pancreas. | Proteomic identification of RREB1, PDE6B, and CD209 up-regulated in primitive gut tube differentiated from human embryonic stem cells.
Lee DH, Ko JJ, Ji YG, Chung HM, Hwang T. | 05/26/2012 |
| Mutations have been identified in the beta-subunit of rod phosphodiesterase in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. | Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S., Free PMC Article | 10/1/2011 |
| Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent. | Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Muradov H, Boyd KK, Artemyev NO., Free PMC Article | 01/15/2011 |
| 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 |
| These studies indicate that the 3' UTR of the PDEbeta mRNA is involved in the complex regulation of this gene's expression in the retina. | Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.
Verardo MR, Viczian A, Piri N, Akhmedov NB, Knox BE, Farber DB., Free PMC Article | 01/21/2010 |
| PDE6B genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. | Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | [Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients].
Cui Y, Wang L, Zhao KX, Wang Q, Chen WY, Wang LM. | 03/13/2008 |