Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis

T Hai, W Guo, J Yao, C Cao, A Luo, M Qi, X Wang… - Human Genetics, 2017 - Springer
Abstract Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL)
syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) …

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

J Sun, Z Hao, H Luo, C He, L Mei, Y Liu… - Journal of Human …, 2017 - nature.com
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with
the combination of various degrees of sensorineural deafness and pigmentary abnormalities …

Mutation screening of MITF gene in patients with Waardenburg syndrome type 2

J Chen, SZ Yang, J Liu, B Han, GJ Wang… - Yi Chuan …, 2008 - europepmc.org
Warrgenburg syndrome type 2 (WS2) is the most common autosomal dominantly-inherited
syndrome with hearing loss. MITF (microphthalmia associated transcription factor) is a basic …

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II

X Yan, T Zhang, Z Wang, YI Jiang, Y Chen… - Journal of Genetics and …, 2011 - Elsevier
Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of
WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the …

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report

Y Shi, X Li, D Ju, Y Li, X Zhang… - Experimental and …, 2016 - spandidos-publications.com
Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of
sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There …

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations

XP Wang, YL Liu, LY Mei, CF He, ZJ Niu… - Journal of human …, 2018 - nature.com
Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to
Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with …

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

M Tassabehji, VE Newton, AP Read - Nature genetics, 1994 - nature.com
Abstract Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of
hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to …

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10

C Verastegui, K Bille, JP Ortonne, R Ballotti - Journal of Biological …, 2000 - ASBMB
The absence of melanocytes from the cochlea and epidermis is responsible of deafness and
hypopigmentation, two symptoms shared by the four Waardenburg syndrome (WS) …

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II

S Yang, P Dai, X Liu, D Kang, X Zhang, W Yang… - Plos one, 2013 - journals.plos.org
Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by
sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin …

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders

S Yokoyama, K Takeda, S Shibahara - Journal of biochemistry, 2006 - academic.oup.com
Waardenburg syndrome (WS) is an inherited disorder, characterized by auditory-pigmentary
abnormalities. SOX10 transcription factor and endothelin receptor type B (EDNRB) are …