(Q28276200)

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

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scholarly article

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

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5

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object named as

Franco Pagani

12

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object named as

Anna Villa

7

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Alberto Albertini

object named as

Alberto Albertini

10

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Ravi Savarirayan

6

object named as

Ravi Savarirayan

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author name string

Lucia Susani

1

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Alessandra Pangrazio

2

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Cristina Sobacchi

3

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Anna Taranta

4

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Paul Orchard

8

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Paolo Vezzoni

9

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Annalisa Frattini

11

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language of work or name

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publication date

September 2004

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24

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3

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225-35

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Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

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https://api.crossref.org/works/10.1002%2FHUMU.20076

21 January 2018

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

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.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

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.20076

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.20076

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.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

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.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

A new type of mutation causes a splicing defect in ATM.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

A combination of osteoclast differentiation factor and macrophage-colony stimulating factor is sufficient for both human and mouse osteoclast formation in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

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.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

Statistical features of human exons and their flanking regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20076

7 January 2021

based on heuristic

inferred from DOI database lookup

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