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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2014, Volume 111, Issue 46, pp. 16496 - 16501
High temperature requirement protein A1 (HtrA1) is a primarily secreted serine protease involved in a variety of cellular processes including transforming... 
Nervous system diseases | Vascular diseases | HEK293 cells | Carrier proteins | Leukoencephalopathies | Fibroblasts | Blood vessels | Immunoblotting | Nervous system heredodegenerative disorders | Genetic mutation | ACTIVATION | MULTIDISCIPLINARY SCIENCES | CLEAVAGE | small vessel disease | LTBP-1 | FIBRONECTIN | SERINE-PROTEASE | EXTRACELLULAR-MATRIX | EXPRESSION | proteolysis | extracellular matrix | TGF-BETA-1 | INSIGHTS | Leukoencephalopathies - genetics | Spinal Diseases - metabolism | Spinal Diseases - genetics | Humans | Serine Endopeptidases - physiology | Mutation, Missense | Cerebral Infarction - genetics | Connective Tissue Growth Factor - biosynthesis | Recombinant Fusion Proteins - metabolism | Serpin E2 - biosynthesis | Brain - metabolism | RNA, Messenger - biosynthesis | Latent TGF-beta Binding Proteins - physiology | Cerebral Infarction - metabolism | Transfection | Alopecia - genetics | HEK293 Cells | Serine Endopeptidases - genetics | Fibroblasts - metabolism | Serine Endopeptidases - deficiency | Signal Transduction | RNA, Messenger - genetics | Cells, Cultured | Gene Expression Regulation | High-Temperature Requirement A Serine Peptidase 1 | Leukoencephalopathies - metabolism | Transforming Growth Factor beta1 - physiology | Fibronectins - metabolism | Mice, Knockout | Protein Interaction Mapping | Alopecia - metabolism | Latent TGF-beta Binding Proteins - genetics | Point Mutation | Serpin E2 - genetics | Animals | Protein Binding | Connective Tissue Growth Factor - genetics | Mice | Protein Processing, Post-Translational | Skin | Biological Sciences
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2009, Volume 119, Issue 12, pp. 3703 - 3712
Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype. Phenotypic variability arises, in part, due to the presence of genetic... 
MEDICINE, RESEARCH & EXPERIMENTAL | MDX MOUSE | LTBP-4 | GENETIC MODIFIERS | DISRUPTION | DISEASE SEVERITY | LUNG-DISEASE | CALCIFICATION | GAMMA-SARCOGLYCAN | CYSTIC-FIBROSIS | MUSCLE-CELLS
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, p. e0150358
Latent TGF beta binding proteins are extracellular matrix proteins that bind latent TGF beta to form the large latent complex. Nonsynonymous polymorphisms in... 
SKELETAL-MUSCLE | GROWTH-FACTOR-BETA | COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | HEART-FAILURE | TRANSFORMING GROWTH-FACTOR-BETA-1 | MUSCULAR-DYSTROPHY | EXTRACELLULAR-MATRIX | DILATED CARDIOMYOPATHY | EXPRESSION | MUSCLE DYSFUNCTION | Latent TGF-beta Binding Proteins - chemistry | Humans | Middle Aged | Transforming Growth Factor beta1 - metabolism | Molecular Sequence Data | Male | Recombinant Fusion Proteins - metabolism | Europe - ethnology | Young Adult | Haplotypes - genetics | Ethnic Groups - genetics | HEK293 Cells | Adult | Female | Chicago - epidemiology | Infant, Newborn | Latent TGF-beta Binding Proteins - metabolism | Cardiomyopathy, Dilated - genetics | Amino Acid Sequence | Gene Frequency | African Americans - genetics | Genotype | Cardiomyopathy, Dilated - metabolism | Protein Interaction Mapping | Latent TGF-beta Binding Proteins - genetics | Alleles | Protein Binding | Polymorphism, Single Nucleotide | Fetal Blood | Haplotypes | Residues | Cardiomyopathy | Linkage disequilibrium | Colorectal cancer | African Americans | Amino acids | Intracellular signalling | Genomes | Single-nucleotide polymorphism | Muscular dystrophy | Proteins | Rodents | Genetics | Extracellular matrix | Cardiology | Growth factors | Binding | Heart failure | Wound healing | Gene expression | Minority & ethnic groups | Diseases | Medicine | Dilated cardiomyopathy | Avidity | Dystrophy | Tumors
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