A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
暂无分享,去创建一个
J. Kere | H. Lohi | J. Turunen | S. Holopainen | M. Yoshihara | M. Arumilli | J. Donner | Maria Kaukonen | K. Wickström | Inka-Tuulevi Pettinen | Ida-Julia Juhola | Masahito Yoshihara
[1] C. Mellersh,et al. A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs , 2020, BMC Genetics.
[2] C. Mellersh,et al. Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs , 2020, Genes.
[3] Ryan M. Layer,et al. webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering , 2020, Frontiers in Genetics.
[4] J. Kere,et al. Differentiation of ciliated human midbrain-derived LUHMES neurons , 2020, bioRxiv.
[5] P. Quignon,et al. Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds , 2019, Human Genetics.
[6] B. J. Klevering,et al. Non-syndromic retinitis pigmentosa , 2018, Progress in Retinal and Eye Research.
[7] B. Ganesan,et al. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs , 2018, PLoS genetics.
[8] K. Nakayama,et al. Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis , 2018, Human molecular genetics.
[9] Ryan E. Mills,et al. The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology , 2017, Genome research.
[10] C. Wade,et al. A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy , 2017, G3: Genes, Genomes, Genetics.
[11] K. Nakayama,et al. Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein–coupled receptors , 2017, Molecular biology of the cell.
[12] Hiromi Hirata,et al. Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport* , 2016, The Journal of Biological Chemistry.
[13] U. Giger,et al. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders , 2016, PloS one.
[14] Piero Carninci,et al. FANTOM5 transcriptome catalog of cellular states based on Semantic MediaWiki , 2016, Database J. Biol. Databases Curation.
[15] B. Guldbrandtsen,et al. Domesticated Animal Biobanking: Land of Opportunity , 2016, PLoS Biology.
[16] P. Nürnberg,et al. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum , 2016, American journal of medical genetics. Part A.
[17] G. Holder,et al. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. , 2016, Investigative ophthalmology & visual science.
[18] H. Lohi,et al. Canine models of human rare disorders , 2016, Rare diseases.
[19] Ryan M. Layer,et al. SpeedSeq: Ultra-fast personal genome analysis and interpretation , 2014, Nature Methods.
[20] Carson C Chow,et al. Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.
[21] S. Saito,et al. Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss , 2014, Clinical genetics.
[22] C. Mellersh,et al. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever , 2014, Canine Genetics and Epidemiology.
[23] C. Mellersh,et al. An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers , 2014, PloS one.
[24] Cesare Furlanello,et al. A promoter-level mammalian expression atlas , 2015 .
[25] F. Alkuraya,et al. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia , 2013, Molecular genetics & genomic medicine.
[26] Shintaro Katayama,et al. SAMstrt: statistical test for differential expression in single-cell transcriptome with spike-in normalization , 2013, Bioinform..
[27] S. Daiger,et al. Genes and mutations causing retinitis pigmentosa , 2013, Clinical genetics.
[28] J. Majewski,et al. WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome , 2013, Clinical genetics.
[29] V. Beneš,et al. DELLY: structural variant discovery by integrated paired-end and split-read analysis , 2012, Bioinform..
[30] G. Acland,et al. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies , 2012, Mammalian Genome.
[31] K. Lindblad-Toh,et al. LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. , 2011, Veterinary journal.
[32] S. Ferrari,et al. Retinitis Pigmentosa: Genes and Disease Mechanisms , 2011, Current genomics.
[33] G. Aguirre,et al. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3) , 2010, Molecular vision.
[34] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[35] J. Epplen,et al. Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene , 2010, neurogenetics.
[36] Maido Remm,et al. Enhancements and modifications of primer design program Primer3 , 2007, Bioinform..
[37] G. Acland,et al. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. , 2006, Genomics.
[38] James A. Cuff,et al. Genome sequence, comparative analysis and haplotype structure of the domestic dog , 2005, Nature.
[39] J. Jurka,et al. Repbase Update, a database of eukaryotic repetitive elements , 2005, Cytogenetic and Genome Research.
[40] G. Woodruff,et al. A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. , 1996, The British journal of ophthalmology.
[41] R. W. Young. Visual cells and the concept of renewal. , 1976, Investigative ophthalmology & visual science.
[42] L. Black. Progressive retinal atrophy , 1972 .
[43] E. Robertis. Morphogenesis of the retinal rods; an electron microscope study. , 1956 .
[44] H. Parry. Degenerations of the Dog Retina * , 1953, The British journal of ophthalmology.
[45] C. Mellersh,et al. Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs , 2020 .
[46] R. Hennekam,et al. Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene , 2022 .
[47] J. Rosenbaum,et al. Intraflagellar transport , 2002, Nature Reviews Molecular Cell Biology.
[48] L. Messiaen,et al. Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. , 2001, DNA and cell biology.