(Q34384166)

1 August 2017

title

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease (English)

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1 August 2017

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Cairns NJ

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Christine Van Broeckhoven

1 August 2017

object named as

Van Broeckhoven C

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1 August 2017

Tysoe C

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1 August 2017

Whittaker J

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1 August 2017

Xuereb J

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1 August 2017

Cruts M

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1 August 2017

Wilcock G

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1 August 2017

Rubinsztein DC

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1 August 2017

language of work or name

English

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publication date

1 January 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

70-76

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Genes contributing to Alzheimer's disease.

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

The presenilin genes: a new gene family involved in Alzheimer disease pathology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Defects in RNA splicing and the consequence of shortened translational reading frames

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Molecular genetics of Alzheimer disease: identification of genes and gene mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

A catalogue of splice junction sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376799

Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Protein topology of presenilin 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301672

1 reference

1 August 2017

1 reference

1 August 2017

1 reference