(Q37074250)

18 August 2017

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title

Towards a better understanding and new therapeutics of osteopetrosis (English)

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18 August 2017

Maria K Askmyr

1

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18 August 2017

Anders Fasth

series ordinal

2

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18 August 2017

Johan Richter

series ordinal

3

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18 August 2017

language of work or name

English

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publication date

1 February 2008

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British Journal of Haematology

18 August 2017

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18 August 2017

140

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18 August 2017

6

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18 August 2017

597-609

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Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

18 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Multinucleated giant cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Transgenic mice overexpressing tartrate-resistant acid phosphatase exhibit an increased rate of bone turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclastic bone resorption by a polarized vacuolar proton pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclast differentiation and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Gene therapy for severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Megakaryocyte development and platelet production.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Gene therapy clinical trials worldwide 1989-2004-an overview.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Dynamic changes in the osteoclast cytoskeleton in response to growth factors and cell attachment are controlled by beta3 integrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Potential Function for the ROS-Generating Activity of TRACP

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Long-term treatment of osteopetrosis with recombinant human interferon gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclasts degrade endosteal components and promote mobilization of hematopoietic progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Expression of the calcitonin receptor in bone marrow cell cultures and in bone: a specific marker of the differentiated osteoclast that is regulated by calcitonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclast and its roles in calcium metabolism and bone development and remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

The a3 Isoform of the 100-kDa V-ATPase Subunit Is Highly but Differentially Expressed in Large (≥10 Nuclei) and Small (≤5 Nuclei) Osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Bone acid phosphatase: tartrate-resistant acid phosphatase as a marker of osteoclast function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Severe malignant osteopetrosis caused by a GL gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Modulation of osteoclast formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Therapeutic approaches to bone diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Removal of osteoclast bone resorption products by transcytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

The putative 116 kDa osteoclast specific vacuolar proton pump subunit has ubiquitous tissue distribution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Congenitally osteosclerotic (oc/oc) mice are resistant to cure by transplantation of bone marrow or spleen cells from normal littermates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoprotegerin: a novel secreted protein involved in the regulation of bone density

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Formation and function of the ruffled border in osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclasts: what do they do and how do they do it?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Origin of osteoclasts: mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

TIRC7 deficiency causes in vitro and in vivo augmentation of T and B cell activation and cytokine response

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Antibody targeting of TIRC7 results in significant therapeutic effects on collagen-induced arthritis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Control of bone resorption by hematopoietic tissue. The induction and reversal of congenital osteopetrosis in mice through use of bone marrow and splenic transplants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Autosomal recessive osteopetrosis: diagnosis, management, and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Osteoclast differentiation factor is a ligand for osteoprotegerin/osteoclastogenesis-inhibitory factor and is identical to TRANCE/RANKL

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Characterization of the Osteoclast Ruffled Border Chloride Channel and Its Role in Bone Resorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

Cathepsin K Knockout Mice Develop Osteopetrosis Due to a Deficit in Matrix Degradation but Not Demineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2008.06983.X

10.1111/J.1365-2141.2008.06983.X

21 January 2018

Identifiers

DOI

1 reference

18 August 2017

1 reference