(Q24672007)

1

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Ulrich Finckh

2

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Gunnar Menzer

3

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Roger M Nitsch

British Journal of Ophthalmology

4

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language of work or name

English

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publication date

February 2002

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published in

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volume

86

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page(s)

214-9

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issue

2

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cites work

Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Identification and localization of retinal cystatin C

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Simple and complex ABCR: genetic predisposition to retinal disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Analysis of expressed sequence tags of retinal pigment epithelium: cystatin C is an abundant transcript.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Lipofuscin-like substances accumulate rapidly in brain, retina and internal organs with cysteine protease inhibition

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

SstII polymorphic sites in the promoter region of the human cystatin C gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Genetic risk of age-related maculopathy. Population-based familial aggregation study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Familial aggregation of age-related maculopathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771004

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration

28 November 2018

1 reference

12 December 2020

Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration

1 reference

12 December 2020

Development of lipofuscin-like fluorescence in the retinal pigment epithelium in response to protease inhibitor treatment

1 reference

12 December 2020

Heredity and age-related macular degeneration. Observations in monozygotic twins

1 reference

12 December 2020

Expression of the cysteine proteinase inhibitor cystatin C mRNA in rat eye

1 reference

12 December 2020

Detection and possible functions of a cysteine protease involved in digestion of rod outer segments by retinal pigment epithelial cells

1 reference

12 December 2020

Structure, properties, mechanisms, and assays of cysteine protease inhibitors: cystatins and E-64 derivatives

1 reference

12 December 2020

A twin study of age-related macular degeneration

1 reference

12 December 2020

Correlation between autofluorescent debris accumulation and the presence of partially processed forms of cathepsin D in cultured retinal pigment epithelial cells challenged with rod outer segments

1 reference

12 December 2020

The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study

1 reference

12 December 2020

A full genome scan for age-related maculopathy

1 reference

12 December 2020