S. Pearce-Kelling

发表

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9

A. Boyko, C. Bustamante, J. Mezey, 2010, Molecular vision.

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

G. Acland, H. Huson, A. Komáromy, 2013, BMC Genetics.

Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.

K. Ray, G. Acland, G. Aguirre, 1998, Molecular vision.

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

G. Aguirre, T. Leeb, V. Jagannathan, 2020, Scientific Reports.

Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

G. Aguirre, T. Leeb, Fan Wang, 2018, G3: Genes, Genomes, Genetics.

Steroids do not prevent photoreceptor degeneration in the light-exposed T4R rhodopsin mutant dog retina irrespective of AP-1 inhibition.

G. Acland, G. Aguirre, W. Beltran, 2009, Investigative ophthalmology & visual science.

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa.

Alexander Sumaroka, T. Aleman, A. Cideciyan, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa

T. Aleman, A. Cideciyan, S. Jacobson, 2002, Proceedings of the National Academy of Sciences of the United States of America.

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

T. Aleman, S. Jacobson, G. Acland, 2001, Molecular vision.

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

G. Acland, G. Aguirre, A. Swaroop, 2009, Mammalian Genome.

Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.

A. J. Roman, W. Hauswirth, T. Aleman, 2006, Human gene therapy.

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.

W. Hauswirth, T. Aleman, A. Cideciyan, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Genetic analysis of the modern Australian labradoodle dog breed reveals an excess of the poodle genome

E. Ostrander, H. Parker, Q. M. Khan, 2020, PLoS genetics.

Gene therapy restores vision in a canine model of childhood blindness

Jean Bennett, Artur V. Cideciyan, Samuel G. Jacobson, 2001, Nature Genetics.

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.

A. J. Roman, W. Hauswirth, T. Aleman, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

G. Acland, G. Aguirre, Jennifer L. Johnson, 2010, Mammalian Genome.

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3

G. Acland, G. Aguirre, C. Zeiss, 2007, Molecular vision.

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

G. Aguirre, K. Boesze-Battaglia, A. Komáromy, 2012, Investigative ophthalmology & visual science.

Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.

Weng Tao, Rong Wen, G. Acland, 2002, Investigative ophthalmology & visual science.

Molecular cloning, characterization and mapping of the canine glucocorticoid receptor DNA binding factor 1 (GRLF1).

G. Aguirre, Qi Zhang, B. Zangerl, 2002, Gene.

Canine rod photoreceptor cGMP-gated channel protein alpha-subunit: studies on the expression of the gene and characterization of the cDNA.

K. Ray, G. Acland, G. Aguirre, 1997, Experimental eye research.

Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.

G. Aguirre, María Hernández, E. Vecino, 2010, Investigative ophthalmology & visual science.

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

G. Acland, G. Aguirre, A. Philp, 2006, Genomics.

Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds.

G. Acland, G. Aguirre, J. Kijas, 2003, Journal of Heredity.

Canine cone transducin-gamma gene and cone degeneration in the cd dog.

G. Acland, G. Aguirre, D. Farber, 1998, Investigative ophthalmology & visual science.

Evaluation of the APOH gene as a positional candidate for prcd in dogs.

E. Ostrander, K. Ray, G. Acland, 1999, Investigative ophthalmology & visual science.

A Naturally Occurring Mutation of the Opsin Gene (T4R) in Dogs Affects Glycosylation and Stability of the G Protein-coupled Receptor*

G. Acland, G. Aguirre, K. Palczewski, 2004, Journal of Biological Chemistry.