(Q50431546)

13 March 2018

title

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects. (English)

1 reference

13 March 2018

1 reference

T Yang

1

1 reference

13 March 2018

X Li

2

1 reference

13 March 2018

Q Huang

3

1 reference

13 March 2018

L Li

4

1 reference

13 March 2018

Y Chai

5

1 reference

13 March 2018

L Sun

6

1 reference

13 March 2018

X Wang

7

1 reference

13 March 2018

Y Zhu

8

1 reference

13 March 2018

Z Wang

9

1 reference

13 March 2018

Z Huang

10

1 reference

13 March 2018

Y Li

11

1 reference

13 March 2018

H Wu

12

1 reference

13 March 2018

publication date

5 March 2012

1 reference

13 March 2018

published in

Clinical Genetics

1 reference

13 March 2018

volume

83

1 reference

13 March 2018

issue

1

1 reference

13 March 2018

page(s)

78-82

1 reference

13 March 2018

Review and update of mutations causing Waardenburg syndrome.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

SLUG (SNAI2) deletions in patients with Waardenburg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01853.X

10.1111/J.1399-0004.2012.01853.X

21 January 2018

Identifiers

DOI

1 reference

13 March 2018

1 reference

13 March 2018