Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
暂无分享,去创建一个
B. Lorenz | P. Nürnberg | J. Altmüller | M. Preising | C. Kubisch | M. Karsak | P. Herkenrath | A. Hedergott | A. Volk | J. Fricke | A. Neugebauer | Simon von Ameln | Sebastian Rading | Meliha Karsak
[1] Shangbang Gao,et al. p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus , 2020, Frontiers in Cell and Developmental Biology.
[2] I. Jackson,et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism , 2020, Genetics in Medicine.
[3] Jineng Lv,et al. Nonhuman Primate Model of Oculocutaneous Albinism with TYR and OCA2 Mutations , 2020, Research.
[4] Mervyn G. Thomas,et al. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. , 2019, Brain : a journal of neurology.
[5] N. Schalij-Delfos,et al. The Phenotypic Spectrum of Albinism. , 2018, Ophthalmology.
[6] Jun-Heon Lee,et al. Identification of polymorphisms in MITF and DCT genes and their associations with plumage colors in Asian duck breeds , 2017, Asian-Australasian journal of animal sciences.
[7] Wenbin Liu,et al. Comparative Transcriptome and DNA methylation analyses of the molecular mechanisms underlying skin color variations in Crucian carp (Carassius carassius L.) , 2017, BMC Genetics.
[8] K. Jeong,et al. Identification and characterization of the tyrosinase gene (TYR) and its transcript variants (TYR_1 and TYR_2) in the crab-eating macaque (Macaca fascicularis). , 2017, Gene.
[9] Mervyn G. Thomas,et al. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing , 2017, European Journal of Human Genetics.
[10] Trevor Hastie,et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.
[11] Michael Bach,et al. ISCEV standard for clinical visual evoked potentials: (2016 update) , 2016, Documenta Ophthalmologica.
[12] A. Milac,et al. Cross-talk between Dopachrome Tautomerase and Caveolin-1 Is Melanoma Cell Phenotype-specific and Potentially Involved in Tumor Progression* , 2016, The Journal of Biological Chemistry.
[13] A. Wong,et al. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management. , 2015, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.
[14] Michael Bach,et al. ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.
[15] V. Hearing,et al. Melanocytes and their diseases. , 2014, Cold Spring Harbor perspectives in medicine.
[16] Mervyn G. Thomas,et al. Abnormal retinal development associated with FRMD7 mutations , 2014, Human molecular genetics.
[17] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[18] Irene Gottlob,et al. Aetiology of infantile nystagmus. , 2014, Current opinion in neurology.
[19] Wei Li,et al. Increasing the complexity: new genes and new types of albinism , 2014, Pigment cell & melanoma research.
[20] I. Gottlob,et al. Diagnostic potential of iris cross-sectional imaging in albinism using optical coherence tomography. , 2013, Ophthalmology.
[21] A. Snoj,et al. Identification of candidate genes involved in marble color pattern formation in genus Salmo. , 2013, Comparative biochemistry and physiology. Part D, Genomics & proteomics.
[22] L. Montoliu,et al. Albinism in Europe , 2013, The Journal of dermatology.
[23] E. Naumova,et al. L-Dopa and the Albino Riddle: Content of L-Dopa in the Developing Retina of Pigmented and Albino Mice , 2013, PloS one.
[24] A. Tymińska,et al. Skin melanocytes: biology and development , 2013, Postepy dermatologii i alergologii.
[25] Tamio Suzuki,et al. Oculocutaneous albinism type 1 , 2011 .
[26] B. Lorenz,et al. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism , 2011, Molecular vision.
[27] Irene Gottlob,et al. Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. , 2011, Investigative ophthalmology & visual science.
[28] F. Solano,et al. New insights into the active site structure and catalytic mechanism of tyrosinase and its related proteins , 2009, Pigment cell & melanoma research.
[29] J. Thompson,et al. The prevalence of nystagmus: the Leicestershire nystagmus survey. , 2009, Investigative ophthalmology & visual science.
[30] Qingjiong Zhang,et al. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation , 2009, American journal of medical genetics. Part A.
[31] Karen Brondum-Nielsen,et al. Oculocutaneous albinism , 2007, Orphanet journal of rare diseases.
[32] M. Chopp,et al. Dopachrome tautomerase (Dct) regulates neural progenitor cell proliferation. , 2006, Developmental biology.
[33] C. Rooryck,et al. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. , 2006, Pigment cell research.
[34] A. Milac,et al. Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein. , 2005, The Biochemical journal.
[35] C. Hoyt,et al. Congenital nystagmus: A clinical perspective in infancy , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.
[36] Friedrich Beermann,et al. Melanocytes and Pigmentation Are Affected in Dopachrome Tautomerase Knockout Mice , 2004, Molecular and Cellular Biology.
[37] H. Bedell,et al. Distribution of Refractive Errors in Albinos and Persons with Idiopathic Congenital Nystagmus , 2002, Optometry and vision science : official publication of the American Academy of Optometry.
[38] S. Orlow,et al. High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex. , 1994, The Journal of investigative dermatology.
[39] I. Jackson,et al. A second tyrosinase‐related protein, TRP‐2, is a melanogenic enzyme termed DOPAchrome tautomerase. , 1992, The EMBO journal.
[40] H Spekreijse,et al. A decisive electrophysiological test for human albinism. , 1983, Electroencephalography and clinical neurophysiology.
[41] W. Green,et al. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. , 1978, Archives of ophthalmology.
[42] B. Forssman,et al. Prevalence and inheritance of congenital nystagmus in a Swedish population , 1971, Annals of human genetics.