(Q39616879)

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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

scientific article published on 22 December 2010

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Emanuele Buratti

2

1 reference

Europe PubMed Central

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18 January 2020

Stefania Zampieri

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Silvia Dominissini

3

1 reference

Europe PubMed Central

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18 January 2020

Anna Lisa Montalvo

4

1 reference

Europe PubMed Central

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18 January 2020

Maria Gabriela Pittis

5

1 reference

Europe PubMed Central

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18 January 2020

Bruno Bembi

6

1 reference

Europe PubMed Central

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18 January 2020

Andrea Dardis

7

1 reference

Europe PubMed Central

PMC publication ID

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18 January 2020

publication date

22 December 2010

1 reference

Europe PubMed Central

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18 January 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

422-431

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Alternative splicing and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Large-scale comparative analysis of splicing signals and their corresponding splicing factors in eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Splicing in action: assessing disease causing sequence changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Pompe disease in infants and children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Expression of a human alpha-globin/fibronectin gene hybrid generates two mRNAs by alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

Exon inclusion is dependent on predictable exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

A novel approach to describe a U1 snRNA binding site.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

14 September 2017

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

25 September 2017

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

15 June 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

15 June 2018

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

15 June 2018

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

15 June 2018

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Automated splicing mutation analysis by information theory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Late-onset Pompe disease primarily affects quality of life in physical health domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060314

21 August 2018

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.188

21 January 2018

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven cases of Pompe disease from Greece

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deeper understanding of unclassified intronic variants and ESEs

1 reference

https://pubmed.ncbi.nlm.nih.gov/21179066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2010.188

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179066%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

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