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Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
Cornea, ISSN 0277-3740, 05/2018, Volume 37, Issue 5, pp. 542 - 547
PURPOSE:In granular corneal dystrophy type 2 (GCD2), corneal deposits containing fragments of transforming growth factor-β–induced protein appear in sequence... 
BETA-INDUCED PROTEIN | visual acuity | AUTOPHAGY | corneal opacity | FIBROBLASTS | KERATO-EPITHELIN | granular corneal dystrophy type 2 | DEPOSITS | GENE | OPHTHALMOLOGY | MUTATIONS | TGFBI | diffuse haze | Care and treatment | Corneal diseases | Development and progression | Visual acuity | Genetic aspects | Transforming growth factors | Health aspects | Index Medicus
Journal Article
International Journal of Biochemistry and Cell Biology, ISSN 1357-2725, 2007, Volume 39, Issue 12, pp. 2183 - 2194
Journal Article
Structure, ISSN 0969-2126, 11/2017, Volume 25, Issue 11, pp. 1740 - 1750.e2
A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea. One of the proteins involved is... 
extracellular matrix protein | cysteine-rich CROPT domain | multi-domain protein | pathological mutants | crystal structure | corneal dystrophy | fasciclin FAS1 domain | GENOTYPE-PHENOTYPE CORRELATIONS | KERATO-EPITHELIN MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYLOID DEPOSITS | STRUCTURE ALIGNMENT | CELL BIOLOGY | BIOPHYSICS | STRUCTURE VALIDATION | MACROMOLECULAR CRYSTALLOGRAPHY | CHINESE PATIENTS | BIGH3 GENE-MUTATIONS | STRUCTURE PREDICTION | GRANULAR DYSTROPHY | Protein Aggregates | Humans | Integrins - chemistry | Corneal Dystrophies, Hereditary - genetics | Integrins - genetics | Crystallography, X-Ray | Transforming Growth Factor beta - chemistry | Integrins - metabolism | Corneal Dystrophies, Hereditary - pathology | Cloning, Molecular | HEK293 Cells | Protein Interaction Domains and Motifs | Binding Sites | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Extracellular Matrix Proteins - chemistry | Gene Expression | Genetic Vectors - chemistry | Extracellular Matrix Proteins - genetics | Genetic Vectors - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Corneal Dystrophies, Hereditary - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Transforming Growth Factor beta - genetics | Protein Conformation, beta-Strand | Protein Binding | Mutation | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, pp. e0119561 - e0119561
Transforming growth factor-beta-induced protein (TGFBIp) is ubiquitously expressed in the extracellular matrix (ECM) of various tissues and cell lines.... 
INDUCED PROTEIN TGFBIP | GROWTH-FACTOR-BETA | OXIDATIVE STRESS | CLATHRIN-INDEPENDENT ENDOCYTOSIS | KERATO-EPITHELIN MUTATIONS | MULTIDISCIPLINARY SCIENCES | ENDOTHELIAL-CELLS | LIPID RAFTS | GRANULAR CORNEAL-DYSTROPHY | EXTRACELLULAR-MATRIX | DEPENDENT PATHWAY | Extracellular Matrix Proteins - chemistry | Caveolae - metabolism | Humans | Ubiquitin - metabolism | Endoplasmic Reticulum - metabolism | Male | Transforming Growth Factor beta - chemistry | Fibroblasts - pathology | Integrin alphaVbeta3 - metabolism | Amino Acid Motifs | Young Adult | Endocytosis | Lysosomes - metabolism | Proteolysis | Adolescent | Adult | Female | Golgi Apparatus - metabolism | Fibroblasts - cytology | Proteasome Endopeptidase Complex - metabolism | Child | Corneal Diseases - pathology | Transforming Growth Factor beta - metabolism | Extracellular Matrix Proteins - metabolism | Gene mutations | Physiological aspects | Lysosomes | Genetic aspects | Research | Transforming growth factors | Plasma | Cornea | Immunoprecipitation | Target recognition | Pathogenesis | Trafficking | Transforming growth factor-b | Science | Glycine | Autophagy | Cell adhesion & migration | Proteins | Arginine | Aging | Fibroblasts | Extracellular matrix | Aspartic acid | Growth factors | Route selection | Caveolae | Secretion | Proteasome inhibitors | Golgi apparatus | Medicine | Inhibitors | Corneal dystrophy | Internalization | Cell lines | Mutation | Dystrophy | Endoplasmic reticulum | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
Experimental Eye Research, ISSN 0014-4835, 03/2012, Volume 96, Issue 1, pp. 163 - 170
Journal Article
Autophagy, ISSN 1554-8627, 12/2012, Volume 8, Issue 12, pp. 1782 - 1797
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease characterized by a progressive age-dependent extracellular accumulation of... 
SQSTM1/p62 | TGFBI | defective autophagy | ubiquitination | LC3/MAP1LC3B | rapamycin | Proteins | Binding | Landes | Calcium | Biology | Bioscience | Cell | Cycle | Organogenesis | Cancer | Ubiquitination | Rapamycin | Defective autophagy | APOPTOSIS | KERATO-EPITHELIN MUTATIONS | AGGREGATE-PRONE PROTEINS | NEURODEGENERATION | ALPHA-SYNUCLEIN | CELL-DEATH | MITOCHONDRIAL FISSION | CELL BIOLOGY | BETA-IG-H3 | DISEASE | DEGRADATION | Humans | Middle Aged | Caspase 3 - metabolism | Male | Fibroblasts - ultrastructure | Autophagy - drug effects | Young Adult | Proteolysis - drug effects | Cornea - drug effects | Lysosomes - metabolism | Corneal Dystrophies, Hereditary - pathology | Adult | Female | Cornea - pathology | Cell Death - drug effects | Child | Extracellular Matrix Proteins - metabolism | Membrane Fusion - drug effects | Fibroblasts - metabolism | Phagosomes - drug effects | Biomarkers - metabolism | Lysosomes - drug effects | Cell Survival - drug effects | Intracellular Space - drug effects | Phagosomes - metabolism | Mutant Proteins - metabolism | Corneal Dystrophies, Hereditary - metabolism | Enzyme Activation - drug effects | Fibroblasts - pathology | Sirolimus - pharmacology | Cornea - metabolism | Intracellular Space - metabolism | Kinetics | Transforming Growth Factor beta - metabolism | Index Medicus | MAP1LC3B | Basic Research Paper | LC3 | SQSTM1 | p62
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2002, Volume 43, Issue 3, pp. 656 - 661
PURPOSE. betaIG-H3 is a TGF-beta-induced cell adhesion molecule, the mutations of which are responsible for a group of 5q31-linked corneal dystrophies. The... 
SEQUENCE-ANALYSIS | GROWTH-FACTOR-BETA | GENE | CLONING | KERATO-EPITHELIN MUTATIONS | OPHTHALMOLOGY | 5Q31-LINKED CORNEAL DYSTROPHIES | DOMAINS | CELL-LINE
Journal Article