(Q38123371)

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5 March 2020

title

Osteopetrosis: genetics, treatment and new insights into osteoclast function (English)

1 reference

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5 March 2020

4

1 reference

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5 March 2020

author name string

Cristina Sobacchi

1

1 reference

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5 March 2020

Ansgar Schulz

2

1 reference

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5 March 2020

Fraser P Coxon

3

1 reference

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5 March 2020

Miep H Helfrich

5

1 reference

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5 March 2020

publication date

23 July 2013

1 reference

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Nature Reviews Endocrinology

5 March 2020

published in

1 reference

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5 March 2020

volume

9

1 reference

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5 March 2020

issue

9

1 reference

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5 March 2020

page(s)

522-536

1 reference

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5 March 2020

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Genetics, pathogenesis and complications of osteopetrosis.

21 January 2018

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Heritable sclerosing bone disorders: presentation and new molecular mechanisms

21 January 2018

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Sclerosing bone disorders: too much of a good thing

21 January 2018

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Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

21 January 2018

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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

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Osteoclast biology: lessons from mammalian mutations

21 January 2018

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

21 January 2018

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Osteopetroses and immunodeficiencies in humans.

21 January 2018

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

21 January 2018

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Kindlin-3: a new gene involved in the pathogenesis of LAD-III.

21 January 2018

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A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

21 January 2018

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

21 January 2018

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

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

21 January 2018

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Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

21 January 2018

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Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis

21 January 2018

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Osteopetrosis with Chiari I malformation: presentation and surgical management.

21 January 2018

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Neurological aspects of osteopetrosis.

21 January 2018

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Malignant infantile osteopetrosis: otolaryngological complications and management

21 January 2018

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Maxillofacial aspects in malignant osteopetrosis

21 January 2018

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A single-center experience in 20 patients with infantile malignant osteopetrosis

21 January 2018

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Infantile osteopetrosis with superimposed rickets

21 January 2018

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RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations

21 January 2018

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

21 January 2018

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Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

21 January 2018

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Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations

21 January 2018

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Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

21 January 2018

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Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

21 January 2018

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Association of Infantile Neuroaxonal Dystrophy and Osteopetrosis: A Rare Autosomal Recessive Disorder

21 January 2018

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Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature

21 January 2018

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Successful cord blood transplantation in a patient with malignant infantile osteopetrosis and hemophilia

21 January 2018

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A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

21 January 2018

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Towards a better understanding and new therapeutics of osteopetrosis

21 January 2018

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The skeleton: a multi-functional complex organ: the role of key signalling pathways in osteoclast differentiation and in bone resorption

21 January 2018

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ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity

21 January 2018

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Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain

21 January 2018

1 reference

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LIS1 regulates osteoclast formation and function through its interactions with dynein/dynactin and Plekhm1

21 January 2018

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An SNX10 mutation causes malignant osteopetrosis of infancy

21 January 2018

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Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

21 January 2018

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Sorting out the cellular functions of sorting nexins

21 January 2018

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Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation

21 January 2018

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

21 January 2018

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New developments in osteoimmunology

21 January 2018

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

21 January 2018

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Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

21 January 2018

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

21 January 2018

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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

21 January 2018

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Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

21 January 2018

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

21 January 2018

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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

21 January 2018

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Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

21 January 2018

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Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese

21 January 2018

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Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

21 January 2018

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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

21 January 2018

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The H syndrome is caused by mutations in the nucleoside transporter hENT3.

21 January 2018

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

21 January 2018

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Molecular regulation of osteoclast activity

21 January 2018

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Genetic regulation of osteoclast development and function

21 January 2018

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Vesicular trafficking in osteoclasts

21 January 2018

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The osteoclast and its unique cytoskeleton

21 January 2018

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

21 January 2018

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In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects

21 January 2018

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Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

21 January 2018

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Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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V-ATPases in osteoclasts: structure, function and potential inhibitors of bone resorption

21 January 2018

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The v-ATPase V0 subunit a1 is required for a late step in synaptic vesicle exocytosis in Drosophila.

21 January 2018

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The amino-terminal domain of the B subunit of vacuolar H+-ATPase contains a filamentous actin binding site

21 January 2018

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Actin binding activity of subunit B of vacuolar H+-ATPase is involved in its targeting to ruffled membranes of osteoclasts

21 January 2018

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Lack of vacuolar proton ATPase association with the cytoskeleton in osteoclasts of osteosclerotic (oc/oc) mice

21 January 2018

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Vacuolar H+-ATPase binding to microfilaments: regulation in response to phosphatidylinositol 3-kinase activity and detailed characterization of the actin-binding site in subunit B.

21 January 2018

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Class IA phosphatidylinositol 3-kinase regulates osteoclastic bone resorption through protein kinase B-mediated vesicle transport.

21 January 2018

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The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice

21 January 2018

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V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway

21 January 2018

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CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 January 2018

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Chloride in vesicular trafficking and function

21 January 2018

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The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.

21 January 2018

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

21 January 2018

1 reference

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Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis

21 January 2018

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The role of calcium and other ions in sorting and delivery in the late endocytic pathway

21 January 2018

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Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation

21 January 2018

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Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.

21 January 2018

1 reference

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

21 January 2018

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Rubicon controls endosome maturation as a Rab7 effector

21 January 2018

1 reference

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Dynein motor contributes to stress granule dynamics in primary neurons

21 January 2018

1 reference

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Disruption of the dynein-dynactin complex unveils motor-specific functions in osteoclast formation and bone resorption

21 January 2018

1 reference

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

21 January 2018

1 reference

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A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

21 January 2018

1 reference

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New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

21 January 2018

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Structural and functional insights of RANKL-RANK interaction and signaling

21 January 2018

1 reference

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Structure-based development of a receptor activator of nuclear factor- B ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis

21 January 2018

1 reference

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A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

21 January 2018

1 reference

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Dissociation of bone resorption and bone formation in adult mice with a non-functional V-ATPase in osteoclasts leads to increased bone strength

21 January 2018

1 reference

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Mechanisms of tooth eruption and orthodontic tooth movement

21 January 2018

1 reference

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Requirement of alveolar bone formation for eruption of rat molars

21 January 2018

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Osteoclast diseases and dental abnormalities

21 January 2018

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Osteopetrosis, osteopetrorickets and hypophosphatemic rickets differentially affect dentin and enamel mineralization.

21 January 2018

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Bisphosphonate osteonecrosis of the jaw: a historical and contemporary review

21 January 2018

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Successful bone-marrow transplantation for infantile malignant osteopetrosis.

21 January 2018

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

21 January 2018

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Ex vivo gene transfer and correction for cell-based therapies

21 January 2018

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

21 January 2018

1 reference

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Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse

21 January 2018

1 reference

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

21 January 2018

1 reference

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The roles of osteoprotegerin and osteoprotegerin ligand in the paracrine regulation of bone resorption.

21 January 2018

1 reference

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Soluble RANKL induces high bone turnover and decreases bone volume, density, and strength in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Evaluation of pharmaceuticals with a novel 50-hour animal model of bone loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Bone quality is partially recovered after the discontinuation of RANKL administration in rats by increased bone mass on existing trabeculae: an in vivo micro-CT study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.

21 January 2018

1 reference

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Directed differentiation of hematopoietic precursors and functional osteoclasts from human ES and iPS cells

21 January 2018

1 reference

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OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

21 January 2018

1 reference

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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/10.1038%2FNRENDO.2013.137

Osteoclasts promote the formation of hematopoietic stem cell niches in the bone marrow

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Inhibition of osteoclast function reduces hematopoietic stem cell numbers in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Osteoclasts are dispensable for hematopoietic stem cell maintenance and mobilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Osteoclast Activity and Subtypes as a Function of Physiology and Pathology—Implications for Future Treatments of Osteoporosis

21 January 2018

1 reference

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Defibrotide for the treatment of hepatic veno-occlusive disease in children after hematopoietic stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis.

21 January 2018

1 reference

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21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

The pathogenesis of osteoclast diseases: Some knowns, but still many unknowns

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Osteopetrosis-More than only a disease of the bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation

21 January 2018

1 reference

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Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in theTCIRG1Gene in Five Osteopetrotic Patients

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

The a3 isoform of V-ATPase regulates insulin secretion from pancreatic beta-cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Interaction between vacuolar H(+)-ATPase and microfilaments during osteoclast activation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Phosphatidylinositol-3 kinase is involved in ruffled border formation in osteoclasts

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Luminal chloride-dependent activation of endosome calcium channels: patch clamp study of enlarged endosomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Location of the binding site for chloride ion activation of cathepsin C

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Denosumab for post-transplantation hypercalcemia in osteopetrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Dental changes in osteopetrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation

31 March 2020

1 reference

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Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

31 March 2020

1 reference

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Risk of osteonecrosis of the jaw in cancer patients receiving denosumab: a meta-analysis of seven randomized controlled trials.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

High peripheral blood progenitor cell counts enable autologous backup before stem cell transplantation for malignant infantile osteopetrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

The osteoclast-not always guilty

31 March 2020

1 reference

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RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease

31 March 2020

1 reference

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Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group

31 March 2020

1 reference

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Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2013.137

Lessons from rare maladies: leukocyte adhesion deficiency syndromes

31 March 2020

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

SNX10 is required for osteoclast formation and resorption activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Osteopetrosis and rickets: an intriguing association

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Osteopetrosis and Glanzmann's thrombasthenia in a child

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Orthopaedic management of the patient with osteopetrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23877423

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2013.137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877423%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877423%20AND%20SRC:MED&resulttype=core&format=json