(Q34606916)

English

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

glycogen storage disease

1 reference

based on heuristic

inferred from title

glycogen metabolic process

1 reference

based on heuristic

inferred from title

author name string

John C Fyfe

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Rebeccah L Kurzhals

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Michelle G Hawkins

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Ping Wang

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Naoya Yuhki

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Urs Giger

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Thomas J Van Winkle

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Mark E Haskins

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Donald F Patterson

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Paula S Henthorn

10

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

publication date

25 January 2007

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

90

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

383-392

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

DINAMelt web server for nucleic acid melting prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Familial cirrhosis of the liver with storage of abnormal glycogen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Second-Generation Integrated Genetic Linkage/Radiation Hybrid Maps of the Domestic Cat (Felis catus)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

BLAT—The BLAST-Like Alignment Tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Glycogen branching enzyme deficiency in quarter horse foals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

A greedy algorithm for aligning DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Alu repeats and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Basic local alignment search tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

7 July 2018

Alu retrotransposition-mediated deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Amylopectinosis in fetal and neonatal Quarter Horses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Glucose homeostasis in a carnivorous animal (cat) and in rats fed a high-protein diet.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2063609

26 October 2018

Patterns of diversity among SINE elements isolated from three Y-chromosome genes in carnivores

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.003

7 January 2021

Surprises of genetic engineering: a possible model of polyglucosan body disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.003

7 January 2021

Metabolic myopathy in canine muscle-type phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.003

7 January 2021

Identifiers

10.1016/J.YMGME.2006.12.003

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34606916&oldid=2164667839"