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Gelsolin

Das GSN kodiert Gelsolin ein Ca-reguliertes Protein, welches die an der Steuerung von Bildung und Abbau von Actinfilamenten beteiligt ist. Mutationen diese gens können eine Amyloidose vom Finnischen Typ hervorrufen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Amyloidose vom Finnischen Typ
GSN

Referenzen:

1.

Kwiatkowski DJ et al. (1988) Localization of gelsolin proximal to ABL on chromosome 9.

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2.

Gorevic PD et al. (1991) Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.

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3.

None (1991) Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides.

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4.

None (1991) Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.

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5.

Kim J et al. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length.

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6.

Levy E et al. (1990) Mutation in gelsolin gene in Finnish hereditary amyloidosis.

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7.

Ghiso J et al. (1990) Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.

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8.

Maury CP et al. (1990) Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin.

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9.

Kwiatkowski DJ et al. (1989) The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.

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10.

Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay.

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11.

Kwiatkowski DJ et al. () Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain.

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12.

Paunio T et al. (1995) Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.

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13.

Witke W et al. (1995) Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin.

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14.

Steiner RD et al. (1995) Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

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15.

Paunio T et al. (1994) Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

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16.

Vasconcellos CA et al. (1994) Reduction in viscosity of cystic fibrosis sputum in vitro by gelsolin.

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17.

Sunada Y et al. (1993) Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.

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18.

Kamada S et al. (1998) A cloning method for caspase substrates that uses the yeast two-hybrid system: cloning of the antiapoptotic gene gelsolin.

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19.

de la Chapelle A et al. (1992) Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

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20.

Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage.

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21.

Paunio T et al. (1992) Solid-phase minisequencing test reveals Asp187--Asn (G654--A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

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22.

de la Chapelle A et al. (1992) Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

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23.

Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.

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24.

Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

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25.

Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

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26.

None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.

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27.

Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).

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28.

Sack GH et al. (1981) Three forms of dominant amyloid neuropathy.

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29.

None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.

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30.

Kazmirski SL et al. (2000) Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.

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31.

Kazmirski SL et al. (2002) Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type.

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32.

Lee WM et al. (1992) The extracellular actin-scavenger system and actin toxicity.

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33.

Pilz A et al. (1992) Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2.

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34.

Maury CP et al. (1992) Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

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35.

Hiltunen T et al. (1991) Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

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36.

Orphanet article

Orphanet ID 122296 external link
37.

NCBI article

NCBI 2934 external link
38.

OMIM.ORG article

Omim 137350 external link
Update: 14. August 2020
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