Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibronectin 1

Das FN1-Gen kodiert das Fibronectin, ein Glycoprotein, welches als Dimer gelöst im Plasma oder als Multimer auf der zelloberfläche und in der extrazellulären Matrix vorkommt. Mutationen sind für die autosomal dominante familiäre Glomerulonephritis mit Fibronectin-Ablagerungen Typ 2 verantwortlich

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Fibronectin-Glomerulopathie
FN1

Referenzen:

1.

Bing DH et al. (1982) Fibronectin binds to the C1q component of complement.

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2.

Ridley A et al. (2000) Molecular switches in metastasis.

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3.

Clark EA et al. (2000) Genomic analysis of metastasis reveals an essential role for RhoC.

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4.

Bittner M et al. (2000) Molecular classification of cutaneous malignant melanoma by gene expression profiling.

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5.

Sakai T et al. (2001) Plasma fibronectin supports neuronal survival and reduces brain injury following transient focal cerebral ischemia but is not essential for skin-wound healing and hemostasis.

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6.

Liao YF et al. (2002) The EIIIA segment of fibronectin is a ligand for integrins alpha 9beta 1 and alpha 4beta 1 providing a novel mechanism for regulating cell adhesion by alternative splicing.

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7.

Niimi K et al. (2002) Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.

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8.

Schwarz-Linek U et al. (2003) Pathogenic bacteria attach to human fibronectin through a tandem beta-zipper.

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9.

Sakai T et al. (2003) Fibronectin requirement in branching morphogenesis.

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10.

Muro AF et al. (2003) Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.

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11.

Jiang G et al. (2003) Two-piconewton slip bond between fibronectin and the cytoskeleton depends on talin.

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12.

Matsunaga T et. al. (2003) Interaction between leukemic-cell VLA-4 and stromal fibronectin is a decisive factor for minimal residual disease of acute myelogenous leukemia.

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13.

Mazzucco G et al. (1992) Glomerulonephritis with organized deposits: a mesangiopathic, not immune complex-mediated disease? A pathologic study of two cases in the same family.

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14.

Grau S et al. (2006) The role of human HtrA1 in arthritic disease.

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15.

Castelletti F et al. (2008) Mutations in FN1 cause glomerulopathy with fibronectin deposits.

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16.

Owerbach D et al. (1978) Genetics of the large, external, transformation-sensitive (LETS) protein: assignment of a gene coding for expression of LETS to human chromosome 8.

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17.

Matsuura H et al. (1988) The oncofetal structure of human fibronectin defined by monoclonal antibody FDC-6. Unique structural requirement for the antigenic specificity provided by a glycosylhexapeptide.

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18.

Skow LC et al. (1987) Mapping of the mouse fibronectin gene (Fn-1) to chromosome 1: conservation of the Idh-1-Cryg-Fn-1 synteny group in mammals.

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19.

Kornblihtt AR et al. (1985) Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene.

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20.

Sekiguchi K et al. (1986) Human liver fibronectin complementary DNAs: identification of two different messenger RNAs possibly encoding the alpha and beta subunits of plasma fibronectin.

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21.

Zneimer SM et al. (1988) Regional localization of the fibronectin and gamma crystallin genes to mouse chromosome 1 by in situ hybridization.

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22.

Prowse KR et al. (1986) Assignment of the human fibronectin structural gene to chromosome 2.

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23.

Gutman A et al. (1987) Identification of a third region of cell-specific alternative splicing in human fibronectin mRNA.

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24.

Odermatt E et al. (1985) Repeating modular structure of the fibronectin gene: relationship to protein structure and subunit variation.

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25.

Jhanwar SC et al. (1986) In situ localization of human fibronectin (FN) genes to chromosome regions 2p14----p16, 2q34----q36, and 11q12.1----q13.5 in germ line cells, but to chromosome 2 sites only in somatic cells.

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26.

Zardi L et al. (1979) Fibronectin: a chromatin-associated protein?

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27.

Eun CK et al. (1980) Human chromosome 11 affects the expression of fibronectin fibers in human x mouse cell hybrids.

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28.

Koch GA et al. (1982) Assignment of a fibronection gene to human chromosome 2 using monoclonal antibodies.

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29.

Kornblihtt AR et al. (1984) Human fibronectin: molecular cloning evidence for two mRNA species differing by an internal segment coding for a structural domain.

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30.

Kornblihtt AR et al. (1983) Isolation and characterization of cDNA clones for human and bovine fibronectins.

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31.

Hirano H et al. (1983) Isolation of genomic DNA clones spanning the entire fibronectin gene.

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32.

Kurkinen M et al. (1980) Polypeptides of human plasma fibronectin are similar but not identical.

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33.

Clemmensen I et al. (1981) Fibronectin and its role in connective tissue diseases.

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34.

Rennard SI et al. (1981) Localization of the human fibronectin (FN) gene on chromosome 8 by a specific enzyme immunoassay.

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35.

McDonagh J et al. (1981) Fibronectin. A molecular glue.

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36.

Mosesson MW et al. (1980) The structure and biologic activities of plasma fibronectin.

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37.

Zardi L et al. (1982) Species-specific monoclonal antibodies in the assignment of the gene for human fibronectin to chromosome 2.

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38.

Assmann KJ et al. (1995) Familial glomerulonephritis characterized by massive deposits of fibronectin.

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39.

Wu BL et al. (1993) In situ hybridization applied to Waardenburg syndrome.

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