(Q50953872)

English

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

scientific article published on 29 May 2013

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Tomáš Honzík

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Hana Vlášková

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Lenka Dvořáková

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Tomas Palecek

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Martin Masek

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Milan Elleder

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

29 May 2013

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

37

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

117-124

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23716275%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

https://scigraph.springernature.com/pub.10.1007/s10545-013-9617-z

0 references

Identification of two lysosomal membrane glycoproteins

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Lysosomal glycogen storage disease with normal acid maltase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Discovery of a novel type of autophagy targeting RNA

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

LAMP proteins are required for fusion of lysosomes with phagosomes

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Danon disease: case report and detection of new mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Clinicopathological features of genetically confirmed Danon disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9617-Z

21 January 2018

Natural history of Danon disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23716275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac magnetic resonance imaging in Danon disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23716275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique properties of lamp2a compared to other lamp2 isoforms

1 reference

https://pubmed.ncbi.nlm.nih.gov/23716275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LAMP2 microdeletions in patients with Danon disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23716275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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=Q50953872&oldid=1512370512"