(Q34085851)

30 July 2017

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II. (English)

1 reference

dentinogenesis imperfecta

30 July 2017

1 reference

11

Li Jin

1 reference

30 July 2017

Jun Zhang

1

1 reference

30 July 2017

Jiucun Wang

2

1 reference

30 July 2017

Yanyun Ma

3

1 reference

30 July 2017

Wenqi Du

4

1 reference

30 July 2017

Siyang Zhao

5

1 reference

30 July 2017

Zuowei Zhang

6

1 reference

30 July 2017

Xiaojiao Zhang

7

1 reference

30 July 2017

Yue Liu

8

1 reference

30 July 2017

Huasheng Xiao

9

1 reference

30 July 2017

Hongyan Wang

10

1 reference

30 July 2017

Jie Liu

12

1 reference

30 July 2017

language of work or name

English

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publication date

18 November 2011

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30 July 2017

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30 July 2017

6

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30 July 2017

11

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30 July 2017

e27982

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Creative Commons Attribution 4.0 International

30 July 2017

start time

18 November 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

SplicePort--an interactive splice-site analysis tool

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

DSPP mutation in dentinogenesis imperfecta Shields type II

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027982

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027982

Phenotypes and genotypes in 2 DGI families with different DSPP mutations.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027982

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220712

10.1371/JOURNAL.PONE.0027982

28 October 2018

Identifiers

DOI

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30 July 2017

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30 July 2017

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