(Q34549503)

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A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD) (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

craniometaphyseal dysplasia

1 reference

based on heuristic

inferred from title

author name string

I-Ping Chen

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Liping Wang

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Xi Jiang

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Hector Leonardo Aguila

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Ernst J Reichenberger

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

publication date

13 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

948-961

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Local communication on and within bone controls bone remodeling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Genetic evidence of serum phosphate-independent functions of FGF-23 on bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Osteoclast-osteoblast communication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

A rare case of bone dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Defective microtubule-dependent podosome organization in osteoclasts leads to increased bone density in Pyk2(-/-) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Biochemical and genetic analysis of ANK in arthritis and bone disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Involvement of the Src-cortactin pathway in podosome formation and turnover during polarization of cultured osteoclasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Molecular regulation of osteoclast activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Role of DC-STAMP in cellular fusion of osteoclasts and macrophage giant cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Podosome and sealing zone: specificity of the osteoclast model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

DC-STAMP is essential for cell-cell fusion in osteoclasts and foreign body giant cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Human primary osteoclasts: in vitro generation and applications as pharmacological and clinical assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Podosomes display actin turnover and dynamic self-organization in osteoclasts expressing actin-green fluorescent protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal dysplasia: a case report and review of medical and surgical management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Role of the mouse ank gene in control of tissue calcification and arthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Rapidly forming apatitic mineral in an osteoblastic cell line (UMR 106-01 BSP).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Progressive ankylosis, a new skeletal mutation in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniofacial surgery in craniometaphyseal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Treatment of craniometaphyseal dysplasia with calcitriol.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Osteoblastic cells are involved in osteoclast formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Congenitally osteosclerotic (os/os) rabbits are not cured by bone marrow transplantation from normal littermates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Modulation of osteoclast differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal dysplasia -variability of expression within a large family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

A rapid, enzymatic assay for measurement of inorganic pyrophosphate in biological samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

7 July 2018

Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Mineral formation in joints caused by complete or joint-specific loss of ANK function.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Phex mutation causes the reduction of npt2b mRNA in teeth.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Direct action of 1,25-dihydroxyvitamin D on bone: VDRKO bone shows excessive bone formation in normal mineral condition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Use of type I collagen green fluorescent protein transgenes to identify subpopulations of cells at different stages of the osteoblast lineage.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ541

21 January 2018

Craniometaphyseal dysplasia: operative findings and treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

27 October 2018

Bone scan findings in craniometaphyseal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3033186

27 October 2018

Identification of multiple osteoclast precursor populations in murine bone marrow

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary joint disorder in progressive ankylosis (ank/ank) mice I. association of calcium hydroxyapatite deposition with inflammatory arthropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tooth eruption in a patient with craniometaphyseal dysplasia: case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dental anomalies in a child with craniometaphysial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21149338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDQ541

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

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