A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse
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[1] R. Rebhun,et al. Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG , 2020, Genes.
[2] T. Leeb,et al. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. , 2019, Animal genetics.
[3] J. Flowers,et al. Origins and geographic diversification of African rice (Oryza glaberrima) , 2018, bioRxiv.
[4] Setty.L.N. Chandra Mohan. Case of Waardenburg Shah syndrome in a family with review of literature , 2018, Journal of otology.
[5] G. Brem,et al. Novel insights into Sabino1 and splashed white coat color patterns in horses , 2018, Animal genetics.
[6] M. Penedo,et al. Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses , 2017, G3: Genes, Genomes, Genetics.
[7] Jaroslav Bendl,et al. PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions , 2016, PLoS Comput. Biol..
[8] K. Lindblad-Toh,et al. A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs , 2014, PloS one.
[9] Yong Feng,et al. Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV. , 2014, Gene.
[10] T. Leeb,et al. Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. , 2013, Animal genetics.
[11] E. Steingrímsson,et al. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. , 2013, Human molecular genetics.
[12] Arne Ludwig,et al. Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse , 2013, PloS one.
[13] T. Leeb,et al. [Clinical evaluation of the new coat colour macchiato in a male Franches-Montagnes horse]. , 2013, Schweizer Archiv fur Tierheilkunde.
[14] Yong Feng,et al. Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2 , 2012, FEBS letters.
[15] Jian Ye,et al. Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction , 2012, BMC Bioinformatics.
[16] J. Matthews,et al. Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses , 2012, PLoS genetics.
[17] O. Distl,et al. A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle , 2011, PloS one.
[18] M. Vikkula,et al. KITLG mutations cause familial progressive hyper- and hypopigmentation. , 2011, The Journal of investigative dermatology.
[19] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[20] J. Borovanský,et al. “Transcription physiology” of pigment formation in melanocytes: central role of MITF , 2010, Experimental dermatology.
[21] J. Madigan,et al. Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. , 2009, Journal of the American Veterinary Medical Association.
[22] D. Adelson,et al. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses , 2008, Cytogenetic and Genome Research.
[23] S. Brooks,et al. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses , 2005, Mammalian Genome.
[24] S. Schmutz,et al. A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle , 1999, Mammalian Genome.
[25] J. Rine,et al. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease , 1998, Mammalian Genome.
[26] Freeman Jl,et al. Hair-bearing flaps in head and neck reconstructive surgery. , 1984 .
[27] Claude-Alain H. Roten,et al. Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..