(Q78847227)

English

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

scientific article published on 01 February 2003

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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:12552563%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12552563%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Jean-Claude Scimeca

1

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17 December 2019

Georges F. Carle

9

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17 December 2019

author name string

Danielle Quincey

2

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17 December 2019

Hugues Parrinello

3

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17 December 2019

Delphine Romatet

4

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17 December 2019

Josiane Grosgeorge

5

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17 December 2019

Patrick Gaudray

6

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17 December 2019

Nicole Philip

7

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17 December 2019

Alain Fischer

8

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17 December 2019

publication date

1 February 2003

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17 December 2019

1 reference

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17 December 2019

21

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17 December 2019

2

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17 December 2019

151-157

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17 December 2019

The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Framework YAC contig anchored into a 3.2-Mb high-resolution physical map in proximal 11q13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparative mapping of two adjacent regions of MMU19 with their human counterpart on HSA11q13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of V-ATPases by reversible disassembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

The amino-terminal domain of the vacuolar proton-translocating ATPase a subunit controls targeting and in vivo dissociation, and the carboxyl-terminal domain affects coupling of proton transport and ATP hydrolysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence that the NH2 terminus of vph1p, an integral subunit of the V0 sector of the yeast V-ATPase, interacts directly with the Vma1p and Vma13p subunits of the V1 sector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Site-directed mutagenesis of the 100-kDa subunit (Vph1p) of the yeast vacuolar (H+)-ATPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Transmembrane topography of the 100-kDa a subunit (Vph1p) of the yeast vacuolar proton-translocating ATPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and expression of three isoforms of the 100-kDa a subunit of the mouse vacuolar proton-translocating ATPase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

FCER1B, a candidate gene for atopy, is located in 11q13 between CD20 and TCN1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Three subunit a isoforms of mouse vacuolar H(+)-ATPase. Preferential expression of the a3 isoform during osteoclast differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10165

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10165

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12552563%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12552563%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

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