(Q35575445)

8 August 2017

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations (English)

1 reference

8 August 2017

1 reference

1 reference

9

1 reference

8 August 2017

12

Chris F Inglehearn

0 references

James A Poulter

2

James A Poulter

0 references

Alan J. Mighell

13

Alan J Mighell

0 references

David Parry

David A Parry

8

0 references

Luiz Claudio Castro

Luiz Claudio Castro

5

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author name string

Ana Carolina Acevedo

1

1 reference

8 August 2017

Priscila Gomes Alves

3

1 reference

8 August 2017

Caroline Lourenço de Lima

4

1 reference

8 August 2017

Paulo Marcio Yamaguti

6

1 reference

8 August 2017

Lilian M Paula

7

1 reference

8 August 2017

Claire E L Smith

10

1 reference

8 August 2017

Colin A Johnson

11

1 reference

8 August 2017

21 February 2015

1 reference

full work available at URL

8 August 2017

http://eprints.whiterose.ac.uk/84836/

content deliverer

White Rose Research Online

object has role

published version

copyright license

Creative Commons Attribution 4.0 International

0 references

https://doi.org/10.1186/s12881-015-0154-5

copyright license

Creative Commons Attribution 4.0 International

0 references

1 reference

8 August 2017

16

1 reference

8 August 2017

8

1 reference

Creative Commons Attribution 4.0 International

8 August 2017

start time

21 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12881-015-0154-5

0 references

cites work

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Raine syndrome: an overview.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

The specific role of FAM20C in amelogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

FAM20C functions intracellularly within both ameloblasts and odontoblasts in vivo

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

FAM20A mutations can cause enamel-renal syndrome (ERS).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

FAM20C plays an essential role in the formation of murine teeth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

A framework for variation discovery and genotyping using next-generation DNA sequencing data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Raine syndrome: expanding the radiological spectrum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Expression of FAM20C in the osteogenesis and odontogenesis of mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Disorders of human dentin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Inducers and inhibitors of biomineralization: lessons from pathological calcification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Raine syndrome associated with cytomegalovirus infection.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins

12 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

12 July 2018

https://api.crossref.org/works/10.1186%2FS12881-015-0154-5

Raine dysplasia: a Brazilian case with a mild radiological involvement.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

A new lethal sclerosing bone dysplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Osteopetrosis: brain ultrasound and computed tomography findings

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Further delineation of Raine syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Intracranial calcification in Raine syndrome: radiological pathological correlation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Lysosomes and removal of the basal lamina of ameloblasts in early stages of odontogenesis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422040

Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-015-0154-5

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome

21 January 2018

1 reference

PubMed

12 December 2020

Intracranial calcification in Raine syndrome

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Raine syndrome: report of a case with hand and foot anomalies

1 reference

PubMed

12 December 2020

10.1186/S12881-015-0154-5

Identifiers

DOI

1 reference

10.1186/S12881-015-0154-5

8 August 2017

0 references

CORE ID

81165360

0 references

Dimensions Publication ID

0 references

1 reference

8 August 2017

1 reference