PubMed

Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation.

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Danciger M, Farber DB.

Br J Ophthalmol. 2007 May;91(5):699-701. No abstract available. PMID: 17446517 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C.

Hum Mutat. 1996;8(4):393-4. No abstract available. PMID: 8956055 [PubMed - indexed for MEDLINE]Related articles

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.

Danciger M, Heilbron V, Gao YQ, Zhao DY, Jacobson SG, Farber DB.

Mol Vis. 1996 Sep 17;2:10. No abstract available. PMID: 9238087 [PubMed - indexed for MEDLINE]Related articlesFree article

Progressive retinal atrophy: a model for retinitis pigmentosa in companion animals.

Sargan DR, Clements PJ, Sohal A, Gregory CY, Bhattacharya SS, Petersen-Jones SM.

Gene Ther. 1994;1 Suppl 1:S89.PMID: 8542435 [PubMed - indexed for MEDLINE]Related articles

Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.

Gao YQ, Danciger M, Zhao DY, Blaney J, Piriev NI, Shih J, Jacobson SG, Heckenlively JH, Farber DB.

Exp Eye Res. 1996 Feb;62(2):149-54.PMID: 8698075 [PubMed - indexed for MEDLINE]Related articles

[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa]

Cui Y, Zhao KX, Wang L, Wang Q, Zhang W, Chen WY, Wang LM.

Zhonghua Yan Ke Za Zhi. 2003 Jan;39(1):28-32. Chinese. PMID: 12760810 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation of mouse pde6b mutations.

Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5170. PMID: 16123450 [PubMed - indexed for MEDLINE]Related articlesFree article

[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.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):200-2. Chinese. PMID: 12778443 [PubMed - indexed for MEDLINE]Related articles

A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.

Saga M, Mashima Y, Akeo K, Kudoh J, Oguchi Y, Shimizu N.

Curr Eye Res. 1998 Mar;17(3):332-5.PMID: 9543643 [PubMed - indexed for MEDLINE]Related articles

Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene.

Chang B, Hawes NL, Pardue MT, German AM, Hurd RE, Davisson MT, Nusinowitz S, Rengarajan K, Boyd AP, Sidney SS, Phillips MJ, Stewart RE, Chaudhury R, Nickerson JM, Heckenlively JR, Boatright JH.

Vision Res. 2007 Mar;47(5):624-33. Epub 2007 Jan 30.PMID: 17267005 [PubMed - indexed for MEDLINE]Related articlesFree article

[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa]

Baiget M, Calaf M, Valverde D, del Río E, Reig C, Carballo M, Calvo MT, González-Duarte R.

Med Clin (Barc). 1998 Oct 10;111(11):420-2. Spanish. PMID: 9834916 [PubMed - indexed for MEDLINE]Related articles

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

McLaughlin ME, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Jun;4(2):130-4.PMID: 8394174 [PubMed - indexed for MEDLINE]Related articles

Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.

Liu J, Huang Q, Higdon J, Liu W, Xie T, Yamashita T, Cheon K, Cheng C, Zuo J.

Hum Mol Genet. 2005 Oct 1;14(19):2945-58. Epub 2005 Aug 26.PMID: 16126734 [PubMed - indexed for MEDLINE]Related articlesFree article

Confirmation of tyrosine 698 in beta subunit of cGMP phosphodiesterase in patients with retinitis pigmentosa and population of the west of Mexico.

Núñez-Gutiérrez IC, García-Cruz D, Fragoso-Herrera R, Medina-Lozano C.

Rev Invest Clin. 2006 Jul-Aug;58(4):359-61. No abstract available. PMID: 17146947 [PubMed - indexed for MEDLINE]Related articles

Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.

Pearce-Kelling SE, Aleman TS, Nickle A, Laties AM, Aguirre GD, Jacobson SG, Acland GM.

Mol Vis. 2001 Feb 25;7:42-7.PMID: 11239245 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M.

Hum Genet. 1996 Jan;97(1):35-8.PMID: 8557257 [PubMed - indexed for MEDLINE]Related articles

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, et al.

Hum Mutat. 1995;5(3):228-34.PMID: 7599633 [PubMed - indexed for MEDLINE]Related articles

A preliminary report on a DNA-based screening method for retinitis pigmentosa. A trial on a west Australian population.

Rakoczy P, Di Grandi S, Kelloway L, Chelva E.

Aust N Z J Ophthalmol. 1995 Nov;23(4):273-9.PMID: 11980072 [PubMed - indexed for MEDLINE]Related articles

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

Danciger M, Blaney J, Gao YQ, Zhao DY, Heckenlively JR, Jacobson SG, Farber DB.

Genomics. 1995 Nov 1;30(1):1-7.PMID: 8595886 [PubMed - indexed for MEDLINE]Related articles

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S.

J Med Genet. 2002 Oct;39(10):E66. No abstract available. PMID: 12362048 [PubMed - indexed for MEDLINE]Related articlesFree article