scholarly journals SOX10 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Sox10 Gene

Expression of the Sox10 gene during mouse inner ear development

2000 ◽  
Vol 84 (1-2) ◽  
pp. 141-145 ◽  
Author(s):  
Ken-ichi Watanabe ◽  
Kazuhisa Takeda ◽  
Yukio Katori ◽  
Katsuhisa Ikeda ◽  
Takeshi Oshima ◽  
...  
Keyword(s):  
Inner Ear ◽  
Ear Development ◽  
Inner Ear Development ◽  
Sox10 Gene

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

2011 ◽  
Vol 408 (4) ◽  
pp. 620-624 ◽  
Author(s):  
Lu Jiang ◽  
Hongsheng Chen ◽  
Wen Jiang ◽  
Zhengmao Hu ◽  
Lingyun Mei ◽  
...  
Keyword(s):  
Waardenburg Syndrome ◽  
Novel Mutations ◽  
Type Iv ◽  
Sox10 Gene

First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination

2017 ◽  
Vol 21 (6) ◽  
pp. 561-567
Author(s):  
David P LeBel ◽  
Daynna J Wolff ◽  
Nicholas I Batalis ◽  
Tara Ellingham ◽  
Natalie Matics ◽  
...  
Keyword(s):  
Neural Crest Cell ◽  
Vital Role ◽  
Family Counseling ◽  
Phenotypic Correlation ◽  
Loss Of Function ◽  
Autopsy Examination ◽  
And Migration ◽  
Crest Cell ◽  
Formalin Fixed ◽  
Sox10 Gene

The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation. Incorporating the use of molecular pathology into the autopsy examination of fetuses with suspected congenital anomalies is vital for appropriate family counseling, and with the ability to use formalin-fixed and paraffin-embedded tissues, has become a practical approach in autopsy pathology.

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

1998 ◽  
Vol 95 (9) ◽  
pp. 5161-5165 ◽  
Author(s):  
B. Herbarth ◽  
V. Pingault ◽  
N. Bondurand ◽  
K. Kuhlbrodt ◽  
I. Hermans-Borgmeyer ◽  
...  
Keyword(s):  
Mouse Model ◽  
Hirschsprung Disease ◽  
Dominant Megacolon ◽  
Sox10 Gene

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

2016 ◽  
Vol 85 ◽  
pp. 56-61 ◽  
Author(s):  
Jing Ma ◽  
Tie-Song Zhang ◽  
Ken Lin ◽  
Hao Sun ◽  
Hong-Chao Jiang ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Sox10 Gene

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 36-41 ◽  
Author(s):  
Hong-Han Wang ◽  
Hong-Sheng Chen ◽  
Hai-Bo Li ◽  
Hua Zhang ◽  
Ling-Yun Mei ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Sox10 Gene
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