(Q37318849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

review article

1 reference

title

Advances in osteoclast biology resulting from the study of osteopetrotic mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author

Anita V Neutzsky-Wulff

2

1 reference

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25 December 2019

author name string

T Segovia-Silvestre

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M G Sorensen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

C Christiansen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

J Bollerslev

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M A Karsdal

6

1 reference

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25 December 2019

K Henriksen

7

1 reference

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25 December 2019

publication date

6 November 2008

1 reference

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25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18987890%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

6

1 reference

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25 December 2019

page(s)

561-577

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-008-0583-8

25 December 2019

exact match

0 references

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Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

21 January 2018

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The new bone biology: pathologic, molecular, and clinical correlates

21 January 2018

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Role of RANK ligand in mediating increased bone resorption in early postmenopausal women

21 January 2018

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Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II

21 January 2018

1 reference

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Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo

21 January 2018

1 reference

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Acidification of the osteoclastic resorption compartment provides insight into the coupling of bone formation to bone resorption.

21 January 2018

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Brain and bone damage in KARAP/DAP12 loss-of-function mice correlate with alterations in microglia and osteoclast lineages.

21 January 2018

1 reference

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Mechanical loading: biphasic osteocyte survival and targeting of osteoclasts for bone destruction in rat cortical bone.

21 January 2018

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

21 January 2018

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

21 January 2018

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12 December 2020

LRP5 and Wnt signaling: a union made for bone

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12 December 2020

Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II

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12 December 2020

Human carbonic anhydrases and carbonic anhydrase deficiencies

1 reference

12 December 2020

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

1 reference

12 December 2020

Osteoblast-like cells complete osteoclastic bone resorption and form new mineralized bone matrix in vitro

1 reference

12 December 2020

Human osteopetroses and the osteoclast V-H+-ATPase enzyme system

1 reference

12 December 2020

Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural and histomorphometric studies of iliac crest trabecular and cortical bone in autosomal dominant osteopetrosis: a study of two radiological types

1 reference

12 December 2020

Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations

1 reference

12 December 2020

The effect of raloxifene on markers of bone turnover in older women living in long-term care facilities

1 reference

12 December 2020

OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling

1 reference

12 December 2020

Human osteoclasts, not osteoblasts, deposit osteopontin onto resorption surfaces: an in vitro and ex vivo study of remodeling bone

1 reference

12 December 2020

Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

1 reference

12 December 2020

Early VEP and ERG Evidence of Visual Dysfunction in Autosomal Recessive Osteopetrosis

1 reference

12 December 2020

Regulation of osteoblast formation and function

1 reference

12 December 2020

Therapeutic approaches to bone diseases

1 reference

12 December 2020

Biochemical markers can predict the response in bone mass during alendronate treatment in early postmenopausal women. Alendronate Osteoporosis Prevention Study Group

1 reference

12 December 2020

Osteoclast differentiation and activation

1 reference

12 December 2020

A clinical and molecular overview of the human osteopetroses

1 reference

12 December 2020

The type I collagen fragments ICTP and CTX reveal distinct enzymatic pathways of bone collagen degradation.

1 reference

12 December 2020

Bidirectional ephrinB2-EphB4 signaling controls bone homeostasis

1 reference

12 December 2020

MMP-9/gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chondrocytes

1 reference

12 December 2020

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

1 reference

12 December 2020

The effects of parathyroid hormone and alendronate alone or in combination in postmenopausal osteoporosis

1 reference

12 December 2020

Reduced osteoblastic population and defective mineralization in osteopetrotic (op/op) mice

1 reference

12 December 2020

The insulin-like growth factor system and the coupling of formation to resorption

1 reference

12 December 2020

The cellular and clinical parameters of anabolic therapy for osteoporosis

1 reference

12 December 2020

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K

1 reference

12 December 2020

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover

1 reference

12 December 2020

Birth and Death of Bone Cells: Basic Regulatory Mechanisms and Implications for the Pathogenesis and Treatment of Osteoporosis 1

1 reference

12 December 2020

The chloride channel inhibitor NS3736 [corrected] prevents bone resorption in ovariectomized rats without changing bone formation

1 reference

12 December 2020

Decreased c-Src expression enhances osteoblast differentiation and bone formation

1 reference

12 December 2020

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

1 reference

12 December 2020

Commitment and differentiation of osteoclast precursor cells by the sequential expression of c-Fms and receptor activator of nuclear factor kappaB (RANK) receptors

1 reference

12 December 2020

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

1 reference

12 December 2020

The collagenolytic activity of cathepsin K is unique among mammalian proteinases

1 reference

12 December 2020

Are nonresorbing osteoclasts sources of bone anabolic activity?

1 reference

12 December 2020

Cytoplasmic pH regulation and chloride/bicarbonate exchange in avian osteoclasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Cell biology of the osteoclast

1 reference

12 December 2020

Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence

1 reference

12 December 2020

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

1 reference

12 December 2020

v-ATPase V0 subunit d2-deficient mice exhibit impaired osteoclast fusion and increased bone formation

1 reference

12 December 2020

The bone lining cell: its role in cleaning Howship's lacunae and initiating bone formation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of the bone phenotype in ClC-7-deficient mice

1 reference

12 December 2020

Selective deficiency of the "bone-related" Runx2-II unexpectedly preserves osteoblast-mediated skeletogenesis.

1 reference

12 December 2020

Proton pump inhibitors control osteoclastic resorption of calcium phosphate implants and stimulate increased local reparative bone growth

1 reference

12 December 2020

Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers

1 reference

12 December 2020

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton

1 reference

12 December 2020

Degradation of the organic phase of bone by osteoclasts: a secondary role for lysosomal acidification

1 reference

12 December 2020

Transforming growth factor-beta1 to the bone

1 reference

12 December 2020

Osteoclast-derived activity in the coupling of bone formation to resorption.

1 reference

12 December 2020

Removal of osteoclast bone resorption products by transcytosis

1 reference

12 December 2020

Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis.

1 reference

12 December 2020

Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation

1 reference

12 December 2020

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

1 reference

12 December 2020

Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis

1 reference

12 December 2020

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

1 reference

12 December 2020

A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts

1 reference

12 December 2020

Bone microdamage and cell apoptosis

1 reference

12 December 2020

The immunomodulatory adapter proteins DAP12 and Fc receptor gamma-chain (FcRgamma) regulate development of functional osteoclasts through the Syk tyrosine kinase

1 reference

12 December 2020

Regulation of osteoclast differentiation

1 reference

12 December 2020

Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.

1 reference

12 December 2020

New mechanisms and targets in the treatment of bone fragility

1 reference

12 December 2020

Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis

1 reference

12 December 2020

Targeted ablation of osteocytes induces osteoporosis with defective mechanotransduction

1 reference

12 December 2020

Osteoclasts secrete non-bone derived signals that induce bone formation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular mechanism of osteochondroprogenitor fate determination during bone formation.

1 reference

12 December 2020

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

1 reference

12 December 2020

RESORPTION PRECEDES FORMATIVE ACTIVITY

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Cardiotrophin-1 Is an Osteoclast-Derived Stimulus of Bone Formation Required for Normal Bone Remodeling

1 reference

12 December 2020

Phenotypic characteristics of bone in carbonic anhydrase II-deficient mice

1 reference

12 December 2020

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

12 December 2020

Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Trafficking of Matrix Collagens Through Bone-Resorbing Osteoclasts

1 reference

12 December 2020

Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis

1 reference

12 December 2020

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population

1 reference

12 December 2020

Inhibition of bone resorption in vitro by antisense RNA and DNA molecules targeted against carbonic anhydrase II or two subunits of vacuolar H(+)-ATPase

1 reference

12 December 2020

Morphology and biochemistry of bone remodeling: possible control by vitamin D, parathyroid hormone, and other substances

1 reference

12 December 2020

Stimulation of bone formation in vitro and in rodents by statins

1 reference

12 December 2020

Cells of the osteoclast lineage as mediators of the anabolic actions of parathyroid hormone in bone

1 reference

12 December 2020

Targeted and nontargeted bone remodeling: relationship to basic multicellular unit origination and progression

1 reference

12 December 2020

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 reference

12 December 2020

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein

1 reference

12 December 2020

Costimulatory signals mediated by the ITAM motif cooperate with RANKL for bone homeostasis

1 reference

12 December 2020

Detection of mRNA for carbonic anhydrase II in human osteoclast-like cells by in situ hybridization

1 reference

12 December 2020

Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Anabolic actions of parathyroid hormone during bone growth are dependent on c-fos

1 reference

12 December 2020

High bone density due to a mutation in LDL-receptor-related protein 5

1 reference

12 December 2020

Immunochemical characterization of assay for carboxyterminal telopeptide of human type I collagen: loss of antigenicity by treatment with cathepsin K

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetics, pathogenesis and complications of osteopetrosis.

1 reference

12 December 2020

An electron-microscopic study of the bone-remodeling sequence in the rat

1 reference

12 December 2020

Impaired bone resorption in cathepsin K-deficient mice is partially compensated for by enhanced osteoclastogenesis and increased expression of other proteases via an increased RANKL/OPG ratio

1 reference

12 December 2020

The Effects of Parathyroid Hormone, Alendronate, or Both in Men with Osteoporosis

1 reference

12 December 2020

Receptors of calciotropic hormones

1 reference

12 December 2020

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis

1 reference

12 December 2020

Osteopetrosis and Glanzmann's thrombasthenia in a child

1 reference

12 December 2020

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization

1 reference

12 December 2020

Increases in Number and Size of Osteoclasts in Response to Calcium or Phosphorus Deficiency in the Rat1

1 reference

12 December 2020

Total absence of colony-stimulating factor 1 in the macrophage-deficient osteopetrotic (op/op) mouse

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

1 reference

12 December 2020

The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor

1 reference

12 December 2020

Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients

1 reference

12 December 2020

Structure and function of V-ATPases in osteoclasts: potential therapeutic targets for the treatment of osteolysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Hormones in the coupling of bone resorption and formation

1 reference

12 December 2020

Carbonic anhydrase II mRNA expression in individual osteoclasts under "resorbing" and "nonresorbing" conditions

1 reference

12 December 2020

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

1 reference

12 December 2020

Denosumab in postmenopausal women with low bone mineral density

1 reference

12 December 2020

Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification

1 reference

12 December 2020

Monitoring of Alendronate Treatment and Prediction of Effect on Bone Mass by Biochemical Markers in the Early Postmenopausal Intervention Cohort Study1

1 reference

12 December 2020

1 reference

12 December 2020

Extensive clear zone and defective ruffled border formation in osteoclasts of osteopetrotic (ia/ia) rats: implications for secretory function

1 reference

12 December 2020

1 reference

12 December 2020

Osteoclastic bone resorption by a polarized vacuolar proton pump

1 reference

12 December 2020

Targeted and nontargeted remodeling

1 reference

12 December 2020

Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis

1 reference

12 December 2020

Osteoclast deficiency results in disorganized matrix, reduced mineralization, and abnormal osteoblast behavior in developing bone

1 reference

12 December 2020

Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP

1 reference

12 December 2020

Identity of osteoclastogenesis inhibitory factor (OCIF) and osteoprotegerin (OPG): a mechanism by which OPG/OCIF inhibits osteoclastogenesis in vitro

1 reference

12 December 2020

Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass.

1 reference

12 December 2020

The osteoclast clear zone is a specialized cell-extracellular matrix adhesion structure

1 reference

12 December 2020

OSTM1 bone defect reveals an intercellular hematopoietic crosstalk.

1 reference

12 December 2020

Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects

1 reference

12 December 2020

The osteoblast: a sophisticated fibroblast under central surveillance

1 reference

12 December 2020

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

1 reference

12 December 2020

The hematogenous origin of osteoclasts: Experimental evidence from osteopetrotic (microphthalmic) mice treated with spleen cells from beige mouse donors

1 reference

12 December 2020

Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts

1 reference

12 December 2020

Serum creatine kinase isoenzyme BB in mammalian osteopetrosis.

1 reference

12 December 2020

Severe malignant osteopetrosis caused by a GL gene mutation.

1 reference

12 December 2020

1 reference

12 December 2020

Bone quality--the material and structural basis of bone strength and fragility

1 reference

12 December 2020

Growth factors to stimulate bone formation

1 reference

12 December 2020

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

1 reference

12 December 2020

A selective inhibitor of the osteoclastic V-H(+)-ATPase prevents bone loss in both thyroparathyroidectomized and ovariectomized rats

1 reference

12 December 2020

Tetracycline-based Study of Bone Dynamics in Pycnodysostosis

1 reference

12 December 2020

Passive chloride permeability charge coupled to H(+)-ATPase of avian osteoclast ruffled membrane

1 reference

12 December 2020

Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

1 reference

12 December 2020

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.

1 reference

12 December 2020

Cathepsin K, but not cathepsins B, L, or S, is abundantly expressed in human osteoclasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Parathyroid hormone stimulates bone formation and resorption in organ culture: evidence for a coupling mechanism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

1 reference

12 December 2020

Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures.

1 reference

12 December 2020

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

1 reference

12 December 2020