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Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). 2004

Debra D Wallis, and Filemon K Tan, and Rebecca Kessler, and Misty D Kimball, and Jill S Cretoiu, and Frank C Arnett, and Dianna M Milewicz
University of Texas-Houston Medical School.

UI MeSH Term Description Entries
D008297 Male Males
D008840 Microfilament Proteins Monomeric subunits of primarily globular ACTIN and found in the cytoplasmic matrix of almost all cells. They are often associated with microtubules and may play a role in cytoskeletal function and/or mediate movement of the cell or the organelles within the cell. Actin Binding Protein,Actin-Binding Protein,Actin-Binding Proteins,Microfilament Protein,Actin Binding Proteins,Binding Protein, Actin,Protein, Actin Binding,Protein, Actin-Binding,Protein, Microfilament,Proteins, Actin-Binding,Proteins, Microfilament
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D005260 Female Females
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071837 Fibrillins A family of extracellular matrix glycoproteins that is structurally similar to LATENT TGF-BETA BINDING PROTEINS, but contain additional TGF-beta binding domains, in addition to unique domains at their N and C-terminals. Fibrillins assemble into 10-12 nm MICROFIBRILS that function in a variety of cell interactions with the EXTRACELLULAR MATRIX and developmental processes such as ELASTIC TISSUE maintenance and assembly, and the targeting of growth factors to the extracellular matrix. Fibrillin
D000071838 Fibrillin-1 A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME. Profibrillin 1,Profibrillin-1,Fibrillin 1

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