(Q50432807)

English

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

scientific article published in October 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

author name string

Hua Zhang

1

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Hongsheng Chen

2

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Hunjin Luo

3

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Jing An

4

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Lin Sun

5

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Lingyun Mei

6

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Chufeng He

7

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Lu Jiang

8

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Wen Jiang

9

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Kun Xia

10

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Jia-Da Li

11

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

Yong Feng

12

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

publication date

1 October 2011

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

131

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

3

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

491-503

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

https://scigraph.springernature.com/pub.10.1007/s00439-011-1098-2

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

The COOH-terminal transactivation domain plays a key role in regulating the in vitro and in vivo function of Pax3 homeodomain

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Nucleocytoplasmic transport

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Mechanism of regulatory target selection by the SOX high-mobility-group domain proteins as revealed by comparison of SOX1/2/3 and SOX9.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Classical nuclear localization signals: definition, function, and interaction with importin alpha

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Review and update of mutations causing Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

From head to toes: the multiple facets of Sox proteins

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1098-2

21 January 2018

Pax3 and Regulation of the Melanocyte-specific Tyrosinase-related Protein-1 Promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cooperative interactions between paired domain and homeodomain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity for Waardenburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sox10, a novel transcriptional modulator in glial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOX10 mutation in Waardenburg syndrome type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/21965087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-011-1098-2

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 March 2018

http://europepmc.org/abstract/MED/21965087

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