(Q34326178)

English

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Svetlana M Tverskaya

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Anna V Abrukova

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ekaterina N Savaskina

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Maxim V Nikulin

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Alexander G Kirillov

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Evgeny K Ginter

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Alexander V Polyakov

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

28 January 2009

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

17

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

664-672

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.234

0 references

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

A clinical and molecular overview of the human osteopetroses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Molecular genetics of too much bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

A new mathematical model for relative quantification in real-time RT-PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2008.234

7 January 2021

based on heuristic

inferred from DOI database lookup

Statistical features of human exons and their flanking regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

Measuring the strength of associations between HLA antigens and diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

6 July 2018

[Autosomal-dominant osteopetrosis in Chuvashiya]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

27 October 2018

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986262

27 October 2018

[Malecot's parameters of isolation by distance and the degrees of endogamy in three regions of the Chuvash Republic]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19172990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiological study of populations in three regions of Chuvashia Republic

1 reference

https://pubmed.ncbi.nlm.nih.gov/19172990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene responsible for familial benign polycythemia to chromosome 11q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/19172990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant recessive osteopetrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19172990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.234

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19172990%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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=Q34326178&oldid=1965251498"