The pathogenesis of keratoconus
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A E Davidson | S. Tuft | A. Hardcastle | A. Davidson | S. Hayes | S Hayes | A J Hardcastle | S J Tuft | S. Hayes
[1] H. Konomi,et al. Distribution of types I, II, III, IV and V collagen in normal and keratoconus corneas. , 1986, Ophthalmic research.
[2] S. Riazuddin,et al. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. , 2012, Investigative ophthalmology & visual science.
[3] S. Riazuddin,et al. Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation. , 2012, American journal of human genetics.
[4] M. Millodot,et al. Prevalence and Associated Factors of Keratoconus in Jerusalem: A Cross-sectional Study , 2011, Ophthalmic epidemiology.
[5] M. McCarthy,et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges , 2008, Nature Reviews Genetics.
[6] C. Ged,et al. A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders , 2011, Dermatology.
[7] Jonathan E. Moore,et al. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. , 2013, Investigative ophthalmology & visual science.
[8] M. Hauser,et al. The Genetics of Keratoconus: A Review. , 2012, Reproductive system & sexual disorders : current research.
[9] M. Daly,et al. Genetic Mapping in Human Disease , 2008, Science.
[10] J. Sugar,et al. Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. , 1998, Investigative ophthalmology & visual science.
[11] E. G. Woodward,et al. Joint hypermobility in keratoconus , 1990, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.
[12] F. Price,et al. Keratoconus onset after age 50. , 2012, Journal of refractive surgery.
[13] Justyna A. Karolak,et al. Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus , 2011, European Journal of Human Genetics.
[14] R. Gwilliam,et al. Molecular analysis of the VSX1 gene in familial keratoconus. , 2007, Molecular vision.
[15] J. F. Cullen,et al. MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS*† , 1963, The British journal of ophthalmology.
[16] A. B. Hill. The Environment and Disease: Association or Causation? , 1965, Proceedings of the Royal Society of Medicine.
[17] A. Nesburn,et al. Keratoconus: I. Biochemical studies. , 1988, Experimental eye research.
[18] V. Mootha,et al. Marked reduction of alcohol dehydrogenase in keratoconus corneal fibroblasts , 2009, Molecular vision.
[19] R. Peiffer,et al. Pathology of corneal endothelium in keratoconus. , 1993, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.
[20] J. Clayton-Smith,et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. , 2011, American journal of human genetics.
[21] G. Conrad,et al. Decorin and biglycan of normal and pathologic human corneas. , 1998, Investigative ophthalmology & visual science.
[22] Y. Rabinowitz,et al. No VSX1 gene mutations associated with keratoconus. , 2006, Investigative ophthalmology & visual science.
[23] T. Sobrino,et al. Subclinical keratoconus and inflammatory molecules from tears , 2009, British Journal of Ophthalmology.
[24] Sevost'ianov En,et al. Epidemiology of keratoconus in the Urals , 1998 .
[25] C. Willoughby,et al. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. , 2011, American journal of human genetics.
[26] Yifei Huang,et al. Changes in collagen orientation and distribution in keratoconus corneas. , 2005, Investigative ophthalmology & visual science.
[27] Y. Pouliquen,et al. Keratoconus and Normal Cornea: A Comparative Study of the Collagenous Fibers of the Corneal Stroma by Image Analysis , 1984, Cornea.
[28] Chris A. Johnson,et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. , 2002, Archives of ophthalmology.
[29] Jason H. Moore,et al. Missing heritability and strategies for finding the underlying causes of complex disease , 2010, Nature Reviews Genetics.
[30] S. Iyengar,et al. Disease severity and family history in keratoconus , 2007, British Journal of Ophthalmology.
[31] K. Taylor,et al. Two-stage genome-wide linkage scan in keratoconus sib pair families. , 2006, Investigative ophthalmology & visual science.
[32] G. Klintworth,et al. Corneal dystrophies , 2009, Orphanet journal of rare diseases.
[33] E. N. Gorskova,et al. [Epidemiology of keratoconus in the Urals]. , 1998, Vestnik oftalmologii.
[34] A. Cassels-Brown,et al. Influence of ethnic origin on the incidence of keratoconus and associated atopic disease in Asians and white patients , 2004, Eye.
[35] S. Tuft,et al. Synchrotron x-ray diffraction studies of keratoconus corneal stroma. , 1992, Investigative ophthalmology & visual science.
[36] J. Craig,et al. The genetics of central corneal thickness , 2009, British Journal of Ophthalmology.
[37] L. Zelante,et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. , 2005, Investigative ophthalmology & visual science.
[38] A. Quantock,et al. The Effect of Riboflavin/UVA Collagen Cross-linking Therapy on the Structure and Hydrodynamic Behaviour of the Ungulate and Rabbit Corneal Stroma , 2013, PloS one.
[39] Tin Aung,et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus , 2013, Nature Genetics.
[40] J. Wollensak,et al. [Acid mucopolysaccharides and glycoproteins in the human cornea in relationship to age and keratoconus]. , 1966, Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology.
[41] T. Sherwin,et al. Cellular incursion into Bowman's membrane in the peripheral cone of the keratoconic cornea. , 2002, Experimental eye research.
[42] A. Pandey,et al. The keratoconus corneal proteome: loss of epithelial integrity and stromal degeneration. , 2013, Journal of proteomics.
[43] K. Taylor,et al. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1 , 2005, Genetics in Medicine.
[44] D. Glavač,et al. Absence of Pathogenic Mutations in VSX1 and SOD1 Genes in Patients With Keratoconus , 2010, Cornea.
[45] L. Desjardins,et al. Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. , 2011, Investigative ophthalmology & visual science.
[46] Lei Zhou,et al. In-depth analysis of the human tear proteome. , 2012, Journal of proteomics.
[47] Chibo Liu,et al. The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population. , 2012, Gene.
[48] L. Zelante,et al. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. , 2009, Investigative ophthalmology & visual science.
[49] C. Skorpik,et al. Altered Organization of Collagen in the Apex of Keratoconus Corneas , 1998, Ophthalmic Research.
[50] Donald J. Brown,et al. The cascade hypothesis of keratoconus. , 2003, Contact lens & anterior eye : the journal of the British Contact Lens Association.
[51] Justyna A. Karolak,et al. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus , 2011, Molecular vision.
[52] A. Aldave,et al. Keratoconus is Not Associated With Mutations in COL8A1 and COL8A2 , 2007, Cornea.
[53] J. Marshall,et al. 3D collagen orientation study of the human cornea using X-ray diffraction and femtosecond laser technology. , 2009, Investigative ophthalmology & visual science.
[54] S. Tuft,et al. A study of corneal thickness, shape and collagen organisation in keratoconus using videokeratography and X-ray scattering techniques. , 2007, Experimental eye research.
[55] J. Foidart,et al. Detection of specific collagen types in normal and keratoconus corneas. , 1981, Investigative ophthalmology & visual science.
[56] R. Mcinnes,et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. , 2002, Human molecular genetics.
[57] F. Polack. Contributions of electron microscopy to the study of corneal pathology. , 1976, Survey of ophthalmology.
[58] H. Oxlund,et al. Biochemical studies of normal and keratoconus corneas , 1985, Acta ophthalmologica.
[59] G. Conrad,et al. Altered keratan sulfate epitopes in keratoconus. , 1989, Investigative ophthalmology & visual science.
[60] A. Murakami,et al. Microarray analysis identified differentially expressed genes in keratocytes from keratoconus patients , 2004, Current eye research.
[61] Y. Rabinowitz,et al. Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5. , 2005, Investigative ophthalmology & visual science.
[62] L. Vaughan,et al. Comparative studies of collagens in normal and keratoconus corneas. , 1988, Experimental eye research.
[63] D. Siscovick,et al. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries , 2022 .
[64] N. Sarvananthan,et al. Does ethnic origin influence the incidence or severity of keratoconus? , 2000, Eye.
[65] Jun Ueda,et al. Keratocan Expression Is Increased in the Stroma of Keratoconus Corneas , 2001, Molecular medicine.
[66] T. Reinheckel,et al. Mutations in LRPAP1 are associated with severe myopia in humans. , 2013, American journal of human genetics.
[67] Caroline L. Speck,et al. Subnormal Cytokine Profile in the Tear Fluid of Keratoconus Patients , 2011, PloS one.
[68] A. Nesburn,et al. SOD1: a candidate gene for keratoconus. , 2006, Investigative ophthalmology & visual science.
[69] P. Mitchell,et al. Mutational analysis of MIR184 in sporadic keratoconus and myopia. , 2013, Investigative ophthalmology & visual science.
[70] P. Mitchell,et al. Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus. , 2013, Investigative ophthalmology & visual science.
[71] J. Sugar,et al. Alpha 2-macroglobulin levels in normal human and keratoconus corneas. , 1994, Investigative ophthalmology & visual science.
[72] L. Zelante,et al. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus , 2011, Molecular vision.
[73] J. Krachmer,et al. Keratoconus and related noninflammatory corneal thinning disorders. , 1984, Survey of ophthalmology.
[74] C Nave,et al. The organisation of collagen fibrils in the human corneal stroma: a synchrotron X-ray diffraction study. , 1987, Current eye research.
[75] J. Rotter,et al. Genetic epidemiological study of keratoconus: evidence for major gene determination. , 2000, American journal of medical genetics.
[76] C. Teng. Electron Microscope Study of The Pathology of Keratoconus: Part I* , 1963 .
[77] S. Tuft,et al. Keratoconus in 18 pairs of twins , 2012, Acta ophthalmologica.
[78] A. Daxer,et al. Collagen fibril orientation in the human corneal stroma and its implication in keratoconus. , 1997, Investigative ophthalmology & visual science.
[79] Y Mashima,et al. Corneal Epithelium in Keratoconus , 1995, Cornea.
[80] S. Tuft,et al. Myopia following penetrating keratoplasty for keratoconus. , 1992, The British journal of ophthalmology.
[81] L. Villalvazo,et al. Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas , 2008, Molecular vision.
[82] G. Fakhraie,et al. Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus , 2011, Molecular vision.
[83] Jong Soo Lee,et al. Evaluation of differentially expressed genes identified in keratoconus , 2009, Molecular vision.
[84] R. Wilson,et al. The Next-Generation Sequencing Revolution and Its Impact on Genomics , 2013, Cell.
[85] M. Kenney,et al. Increased Gelatinolytic Activity in Keratoconus Keratocyte Cultures: A Correlation to an Altered Matrix Metalloproteinase-2/Tissue Inhibitor of Metalloproteinase Ratio , 1994, Cornea.
[86] M. Smolek,et al. Collagen fibril orientation in the human corneal stroma and its implications in keratoconus. , 1997, Investigative ophthalmology & visual science.
[87] L. Loew,et al. Second Harmonic Imaging Microscopy , 2003, Microscopy and Microanalysis.
[88] Teruo Nishida,et al. Second-harmonic imaging microscopy of normal human and keratoconus cornea. , 2007, Investigative ophthalmology & visual science.
[89] K. Birkenkamp-Demtröder,et al. Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. , 2003, Investigative ophthalmology & visual science.
[90] M. Frydman,et al. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. , 2008, American journal of human genetics.
[91] H. Khalak,et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus , 2011, Nature Genetics.
[92] R. Joseph,et al. Differential epithelial and stromal protein profiles in keratoconus and normal human corneas. , 2011, Experimental eye research.
[93] B. L. Shapiro. Down syndrome and associated congenital malformations. , 2003, Journal of neural transmission. Supplementum.
[94] C. Edmund,et al. Corneal elasticity and ocular rigidity in normal and keratoconic eyes , 1988, Acta ophthalmologica.
[95] J. Sugar,et al. Three-dimensional scanning electron microscopic study of keratoconus corneas. , 1998, Archives of ophthalmology.
[96] G. Fishman,et al. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. , 2009, Investigative ophthalmology & visual science.
[97] D. Siscovick,et al. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. , 2011, Investigative ophthalmology & visual science.
[98] J. Błasiak,et al. Oxidative Stress in the Pathogenesis of Keratoconus and Fuchs Endothelial Corneal Dystrophy , 2013, International journal of molecular sciences.