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Literature DB >> 1319113

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

A Wiens¹, S Marles, J Safneck, D J Kwiatkowski, C P Maury, T Zelinski, S Philipps, M B Ekins, C R Greenberg.

Abstract

Familial lattice corneal dystrophy type I (LCD1) is a localized form of inherited amyloidosis limited to the corneal stroma. Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). In this paper we exclude the gelsolin gene as the cause of the autosomal dominant form of isolated LCD1.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1992 PMID： 1319113 PMCID： PMC1682887

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

19 in total

1. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

Authors: G Boysen; G Galassi; Z Kamieniecka; J Schlaeger; W Trojaborg
Journal: J Neurol Neurosurg Psychiatry Date: 1979-11 Impact factor: 10.154

2. Dinucleotide repeat polymorphism at the GSN locus (9q32-34).

Authors: D J Kwiatkowski; S Perman
Journal: Nucleic Acids Res Date: 1991-02-25 Impact factor: 16.971

Review 3. Inherited amyloidosis.

Authors: M D Benson
Journal: J Med Genet Date: 1991-02 Impact factor: 6.318

4. Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma.

Authors: G O Waring; M M Rodrigues; P R Laibson
Journal: Surv Ophthalmol Date: 1978 Sep-Oct Impact factor: 6.048

5. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

Authors: J Meretoja
Journal: Ann Clin Res Date: 1969-12

6. Lack of evidence for protein AA reactivity in amyloid deposits of lattice corneal dystrophy and amyloid corneal degeneration.

Authors: P D Gorevic; M M Rodrigues; J H Krachmer; C Green; S Fujihara; G G Glenner
Journal: Am J Ophthalmol Date: 1984-08-15 Impact factor: 5.258

7. Protein AA and lattice corneal dystrophy.

Authors: B J Mondino; C V Raj; M Skinner; A S Cohen; S I Brown
Journal: Am J Ophthalmol Date: 1980-03 Impact factor: 5.258

8. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Authors: D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal: Am J Hum Genet Date: 1991-01 Impact factor: 11.025

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

1. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

2. Dinucleotide repeat polymorphism at the GSN locus (9q32-34).

Review 3. Inherited amyloidosis.

4. Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma.

5. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

6. Lack of evidence for protein AA reactivity in amyloid deposits of lattice corneal dystrophy and amyloid corneal degeneration.

7. Protein AA and lattice corneal dystrophy.

8. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

9. Mutation in gelsolin gene in Finnish hereditary amyloidosis.

1. Identification of an uncommon haptoglobin type using DNA and protein analysis.

2. Immunohistochemical analysis of lattice corneal dystrophies types I and II.

3. Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).