Novel Alu retrotransposon insertion leading to Alström syndrome (Q35691014)

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11 February 2020

title

Novel Alu retrotransposon insertion leading to Alström syndrome (English)

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11 February 2020

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5

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11 February 2020

author name string

Mustafa Taşkesen

1

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11 February 2020

Gayle B Collin

2

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11 February 2020

Alexei V Evsikov

3

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11 February 2020

Ayşegül Güzel

4

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11 February 2020

Jan D Marshall

6

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11 February 2020

Jürgen K Naggert

7

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11 February 2020

publication date

30 August 2011

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11 February 2020

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11 February 2020

volume

131

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11 February 2020

issue

3

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11 February 2020

page(s)

407-413

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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

11 February 2020

cites work

1 reference

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The transcript repeat element: the human Alu sequence as a component of gene networks influencing cancer

27 July 2018

1 reference

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Making sense of cilia in disease: the human ciliopathies.

27 July 2018

1 reference

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Diverse cis factors controlling Alu retrotransposition: what causes Alu elements to die?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

Retrotransposable elements and human disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

Alstrom syndrome (OMIM 203800): a case report and literature review

27 July 2018

1 reference

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

27 July 2018

1 reference

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Alms1-disrupted mice recapitulate human Alström syndrome

27 July 2018

1 reference

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Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

27 July 2018

1 reference

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Alu repeats and human genomic diversity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

Initial sequencing and analysis of the human genome

27 July 2018

1 reference

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Cytosine methylation and the ecology of intragenomic parasites

27 July 2018

1 reference

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Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

27 July 2018

1 reference

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Distinctive sequence organization and functional programming of an Alu repeat promoter

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3264847

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

27 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1083-9

Repbase Update, a database of eukaryotic repetitive elements

21 January 2018

1 reference

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A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1083-9

New Alström syndrome phenotypes based on the evaluation of 182 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1083-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1083-9

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1083-9

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21877133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-011-1083-9

1 reference

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11 February 2020

1 reference

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11 February 2020

PubMed publication ID

21877133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21877133%20AND%20SRC:MED&resulttype=core&format=json