| Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. | Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
Nouri Z, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA., Free PMC Article | 07/25/2024 |
| Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function. | Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function.
Singh S, Srivastava D, Boyd K, Artemyev NO., Free PMC Article | 02/9/2024 |
| An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas. | An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas.
Bachu VS, Kandoi S, Park KU, Kaufman ML, Schwanke M, Lamba DA, Brzezinski JA 4th., Free PMC Article | 06/25/2022 |
| Two novel PDE6C gene mutations in Chinese family with achromatopsia. | Two novel PDE6C gene mutations in Chinese family with achromatopsia.
Yuan S, Qi R, Fang X, Wang X, Zhou L, Sheng X. | 06/26/2021 |
| PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. | PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA., Free PMC Article | 05/8/2021 |
| Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia. | Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
Bushehri A, Zare-Abdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorram Khorshid HR., Free PMC Article | 02/6/2021 |
| Three novel homozygous variants were detected in CNGA3, two novel variants were found in PDE6C. All patients had nonrecordable full-field electroretinography 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. | Novel causative variants in patients with achromatopsia.
Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P. | 04/13/2019 |
| This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C. | Mechanisms of mutant PDE6 proteins underlying retinal diseases.
Gopalakrishna KN, Boyd K, Artemyev NO., Free PMC Article | 05/26/2018 |
| A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. | Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. | 02/27/2016 |
| Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones. | Exchange of Cone for Rod Phosphodiesterase 6 Catalytic Subunits in Rod Photoreceptors Mimics in Part Features of Light Adaptation.
Majumder A, Pahlberg J, Muradov H, Boyd KK, Sampath AP, Artemyev NO., Free PMC Article | 09/5/2015 |
| The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). | Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL. | 03/15/2014 |
| 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 |
| Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. | Clinical utility gene card for: achromatopsia.
Kohl S, Hamel CP., Free PMC Article | 09/17/2011 |
| Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations | Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S., Free PMC Article | 06/18/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesPoor replication of candidate genes for major depressive disorder using genome-wide association data.
Bosker FJ, Hartman CA, Nolte IM, Prins BP, Terpstra P, Posthuma D, van Veen T, Willemsen G, DeRijk RH, de Geus EJ, Hoogendijk WJ, Sullivan PF, Penninx BW, Boomsma DI, Snieder H, Nolen WA. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 04/7/2010 |
| the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia was reported. | A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B., Free PMC Article | 01/21/2010 |
| analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods | Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods.
Muradov H, Boyd KK, Haeri M, Kerov V, Knox BE, Artemyev NO., Free PMC Article | 01/21/2010 |
| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. | Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC., Free PMC Article | 01/21/2010 |