(Q21144895)

21 June 2017

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

1 reference

FAM20A golgi associated secretory pathway pseudokinase

21 June 2017

1 reference

GOA release 2020-03-11

enamel mineralization

1 reference

FAM20A, golgi associated secretory pathway pseudokinase

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Shih-Kai Wang

1

Shih-Kai

Wang

1 reference

17 August 2022

Parissa Aref

2

Parissa

Aref

1 reference

21 June 2017

Yuanyuan Hu

3

Yuanyuan

Hu

1 reference

21 June 2017

Rachel N Milkovich

4

Rachel N

Milkovich

1 reference

21 June 2017

James P Simmer

5

James P

Simmer

1 reference

21 June 2017

Mohammad El-Khateeb

6

Mohammad

El-Khateeb

1 reference

21 June 2017

Hinda Daggag

7

Hinda

Daggag

1 reference

21 June 2017

Zaid H Baqain

8

Zaid H

Baqain

1 reference

21 June 2017

Jan C-C Hu

9

Jan C-C

Hu

1 reference

21 June 2017

language of work or name

English

0 references

publication date

28 February 2013

1 reference

21 June 2017

1 reference

21 June 2017

9

1 reference

21 June 2017

2

1 reference

21 June 2017

e1003302

1 reference

Creative Commons Attribution 4.0 International

21 June 2017

start time

28 February 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Novel WDR72 mutation and cytoplasmic localization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Target gene analyses of 39 amelogenesis imperfecta kindreds

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Pre-mRNA splicing in disease and therapeutics

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Amelogenesis imperfecta: genotype-phenotype studies in 71 families

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Enamel dysplasia with hamartomatous atypical follicular hyperplasia: review of the literature and report of a case.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Enamel dysplasia with odontogenic fibroma-like hamartomas: review of the literature and report of a case

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Mineralized tissue and vertebrate evolution: the secretory calcium-binding phosphoprotein gene cluster

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Consanguinity. Report of a case

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003302

Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003302

A transgenic mouse line with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and its upstream region shows growth disorder

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585120

Generalized enamel hypoplasia and renal dysfunction

29 November 2018

1 reference

12 December 2020

Amelogenesis imperfecta and multiple impactions

1 reference

12 December 2020

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism

1 reference

12 December 2020

Interradicular dentin dysplasia associated with amelogenesis imperfecta

1 reference

12 December 2020

Familial amelodentinal dysplasia

1 reference

12 December 2020

Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations

1 reference

12 December 2020

Amelogenesis imperfecta: multiple impactions associated with odontogenic fibromas (WHO) type

1 reference

12 December 2020

Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia

1 reference

12 December 2020

Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings

1 reference

12 December 2020

Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents

1 reference

12 December 2020

Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment

1 reference

12 December 2020

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family

1 reference

12 December 2020

Amelogenesis Imperfecta and Unusual Gingival Hyperplasia

1 reference

12 December 2020

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

1 reference

12 December 2020

Is amelogenesis imperfecta an indication for renal examination?

1 reference

12 December 2020

Progressive pre-eruptive crown resorption in autosomal recessive generalized hypoplastic amelogenesis imperfecta

1 reference

12 December 2020

The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome

1 reference

12 December 2020

Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003302

Identifiers

DOI

1 reference

OpenCitations bibliographic resource ID

21 June 2017

109005

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference