(Q35191281)

7 August 2017

title

Molecular basis of splotch and Waardenburg Pax-3 mutations (English)

1 reference

7 August 2017

G Chalepakis

1

1 reference

7 August 2017

M Goulding

2

1 reference

7 August 2017

A Read

3

1 reference

7 August 2017

T Strachan

4

1 reference

7 August 2017

P Gruss

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 April 1994

1 reference

Proceedings of the National Academy of Sciences of the United States of America

7 August 2017

published in

1 reference

7 August 2017

volume

91

1 reference

7 August 2017

issue

9

1 reference

7 August 2017

page(s)

3685-3689

1 reference

A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

The oncogenic potential of Pax genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Mapping of mouse gamma crystallin genes on chromosome 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

5'-3' exonucleases in phosphorothioate-based oligonucleotide-directed mutagenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Eukaryotic expression vectors for the analysis of mutant proteins.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

The molecular basis of the undulated/Pax-1 mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Pax: a murine multigene family of paired box-containing genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43646

Analysis of the Pax-3 gene in the mouse mutant splotch

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7909605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7909605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.91.9.3685

1 reference

7 August 2017

0 references

1 reference

7 August 2017

1 reference