A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia (Q34952076)

5 August 2017

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia (English)

1 reference

craniometaphyseal dysplasia

5 August 2017

1 reference

inferred from title

author

Maria Rita Passos-Bueno

7

object named as

Maria Rita Passos-Bueno

1 reference

5 August 2017

Ying Hu

1

1 reference

5 August 2017

I-Ping Chen

2

1 reference

5 August 2017

Salome de Almeida

3

1 reference

5 August 2017

Valdenize Tiziani

4

1 reference

5 August 2017

Cassio M Raposo Do Amaral

5

1 reference

5 August 2017

Kalpana Gowrishankar

6

1 reference

5 August 2017

Ernst J Reichenberger

8

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5 August 2017

language of work or name

English

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publication date

12 August 2013

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5 August 2017

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5 August 2017

8

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5 August 2017

8

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5 August 2017

e73576

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Creative Commons Attribution 4.0 International

5 August 2017

start time

12 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Deletion of Cx43 from osteocytes results in defective bone material properties but does not decrease extrinsic strength in cortical bone

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Osteoblast and osteocyte-specific loss of Connexin43 results in delayed bone formation and healing during murine fracture healing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

TGF-β and BMP signaling in osteoblast differentiation and bone formation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Delayed osteoblastic differentiation and bone development in Cx43 knockout mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Enhanced osteoclastic resorption and responsiveness to mechanical load in gap junction deficient bone

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Connexin43 interacts with βarrestin: a pre-requisite for osteoblast survival induced by parathyroid hormone

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Osteoblast connexin43 modulates skeletal architecture by regulating both arms of bone remodeling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

The carboxy-terminal tail of connexin43 gap junction protein is sufficient to mediate cytoskeleton changes in human glioma cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Inhibition of microtubule assembly in osteoblasts stimulates bone morphogenetic protein 2 expression and bone formation through transcription factor Gli2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Cell-cell communication in the osteoblast/osteocyte lineage.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Modulation of the microtubule cytoskeleton: a role for a divergent canonical Wnt pathway

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Cx43 mediates TGF-beta signaling through competitive Smads binding to microtubules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Microtubules are required for NF-kappaB nuclear translocation in neuroblastoma IMR-32 cells: modulation by zinc

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Structural intermediates in microtubule assembly and disassembly: how and why?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Gap junctions in skeletal development and function.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Neurological manifestations of the oculodentodigital dysplasia syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Gap junction protein connexin-43 interacts directly with microtubules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Differentiation of human fetal osteoblastic cells and gap junctional intercellular communication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Inhibiting gap junctional intercellular communication alters expression of differentiation markers in osteoblastic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Craniotubular bone disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Craniometaphyseal dysplasia (CMD), autosomal dominant form

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Craniofacial surgery in craniometaphyseal dysplasia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3741164

Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Autosomal recessive craniometaphyseal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Low peak bone mass and attenuated anabolic response to parathyroid hormone in mice with an osteoblast-specific deletion of connexin43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Microtubule disruption utilizes an NFkappa B-dependent pathway to stabilize HIF-1alpha protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Identification of a tetrameric hedgehog signaling complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073576

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

21 January 2018

1 reference

12 December 2020

Tooth eruption in a patient with craniometaphyseal dysplasia: case report

1 reference

12 December 2020

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

1 reference

12 December 2020

Craniometaphyseal dysplasia in six generations of a German kindred

1 reference

12 December 2020

Dental anomalies in a child with craniometaphysial dysplasia

1 reference

12 December 2020

Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia

1 reference

12 December 2020

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0073576

Identifiers

DOI

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5 August 2017

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5 August 2017

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