Gelsolin
The GSN gene encodes a calcium regulated protein that is involved in actin filament metabolism. Mutations cause autosomal dominant amyloidosis of Finnish type.
Genetests:
Related Diseases:
References:
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
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37. |
NCBI article
NCBI 2934
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38. |
OMIM.ORG article
Omim 137350
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39. |
Wikipedia article
Wikipedia EN (Gelsolin)
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Update: Aug. 14, 2020