Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. - Test2 - elhamkhani - TriplyDB

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

http://www.wikidata.org/entity/Q44078571

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A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations Genome sequence, comparative analysis and haplotype structure of the domestic dog Gene therapy rescues cone function in congenital achromatopsia.An integrated 4249 marker FISH/RH map of the canine genome Canine genomics and genetics: running with the pack.Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice Genomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for Xenarthra Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies Man's best friend becomes biology's best in show: genome analyses in the domestic dog CNTF and retina Assessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary Response Progressive retinal atrophy in the Border Collie: a new XLPRA.A study of candidate genes for day blindness in the standard wire haired dachshund Evaluation of a behavioral method for objective vision testing and identification of achromatopsia in dogs.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Leading the way: canine models of genomics and disease A novel form of progressive retinal atrophy in Swedish vallhund dogs Microsatellite polymorphism and its association with body weight and selected morphometrics of farm red fox (Vulpes vulpes L.).CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).The genetics of eye disorders in the dog Evaluation of lateral spread of transgene expression following subretinal AAV-mediated gene delivery in dogs Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Radiation hybrid mapping of cataract genes in the dog.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.Clinical characteristics and current therapies for inherited retinal degenerations A cyclic nucleotide-gated channel mutation associated with canine daylight blindness provides insight into a role for the S2 segment tri-Asp motif in channel biogenesis.Chromosomal mapping of canine-derived BAC clones to the red fox and American mink genomes.An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers Investigating the inheritance of prolapsed nictitating membrane glands in a large canine pedigree.Increased expression of MERTK is associated with a unique form of canine retinopathy Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.The cone dysfunction syndromes.Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Dog star rising: the canine genetic system.A Promising Tool in Retina Regeneration: Current Perspectives and Challenges When Using Mesenchymal Progenitor Stem Cells in Veterinary and Human Ophthalmological Applications.

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P2860

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

http://www.wikidata.org/entity/Q44078571

description

2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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2002年學術文章

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name

Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

@en

Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

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type

label

Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

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Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

@nl

prefLabel

Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

@en

Canine CNGB3 mutations establi ...... man achromatopsia locus ACHM3.

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Human Molecular Genetics

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Bruce S Milne

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Duska J Sidjanin

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Elaine A Ostrander

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Gregory M Acland

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Gustavo D Aguirre

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Jennifer K Lowe

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John L McElwee

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Taryn M Phippen

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1823-1833

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10.1093/HMG/11.16.1823

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16

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11

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