Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (Q53594146)

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English	Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.	scientific article

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scholarly article

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16 May 2018

http://europepmc.org/abstract/MED/16806805

Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (English)

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16 May 2018

http://europepmc.org/abstract/MED/16806805

cone-rod dystrophy

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inferred from title

author name string

Mellersh CS

1

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http://europepmc.org/abstract/MED/16806805

Boursnell ME

2

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http://europepmc.org/abstract/MED/16806805

Pettitt L

3

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http://europepmc.org/abstract/MED/16806805

Ryder EJ

4

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Europe PubMed Central

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http://europepmc.org/abstract/MED/16806805

Holmes NG

5

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http://europepmc.org/abstract/MED/16806805

Grafham D

6

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http://europepmc.org/abstract/MED/16806805

Forman OP

7

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http://europepmc.org/abstract/MED/16806805

Sampson J

8

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http://europepmc.org/abstract/MED/16806805

Barnett KC

9

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http://europepmc.org/abstract/MED/16806805

Blanton S

10

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http://europepmc.org/abstract/MED/16806805

Binns MM

11

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http://europepmc.org/abstract/MED/16806805

Vaudin M

12

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publication date

27 June 2006

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http://europepmc.org/abstract/MED/16806805

88

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293-301

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3

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Unleashing the canine genome

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A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

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Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

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

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Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

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

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Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis

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7 January 2021

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.05.004

7 January 2021

Progressive retinal atrophy in miniature longhaired dachshund dogs

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.05.004

7 January 2021

Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.05.004

7 January 2021

Genome sequence, comparative analysis and haplotype structure of the domestic dog

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Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library

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An integrated 4249 marker FISH/RH map of the canine genome

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7 January 2021

A 1-Mb resolution radiation hybrid map of the canine genome

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7 January 2021

Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes

1 reference

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7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

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7 January 2021

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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7 January 2021

The Ensembl automatic gene annotation system

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7 January 2021

An overview of Ensembl

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7 January 2021

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

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7 January 2021

Ueber Retinitis pigmentosa und angeborene Amaurose

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7 January 2021

Leber congenital amaurosis: a genetic paradigm

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7 January 2021

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

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7 January 2021

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

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7 January 2021

The dog genome: survey sequencing and comparative analysis.

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Analysis of major repetitive DNA sequences in the dog (Canis familiaris) genome

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7 January 2021

A highly repetitive DNA sequence possibly unique to canids

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CAN--a pan-carnivore SINE family

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SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

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A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

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Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

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Identification of a novel protein interacting with RPGR.

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The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

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10.1016/J.YGENO.2006.05.004

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http://europepmc.org/abstract/MED/16806805

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