Review and update of mutations causing Waardenburg syndrome

V Pingault, D Ente, F Dastot‐Le Moal… - Human …, 2010 - Wiley Online Library
Waardenburg syndrome (WS) is characterized by the association of pigmentation
abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or …

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

V Pingault, L Zerad, W Bertani-Torres… - Journal of Medical …, 2022 - jmg.bmj.com
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group
box-containing (SOX) proteins, most of which contribute to cell type specification and …

Zebrafish embryos and larvae: a new generation of disease models and drug screens

S Ali, DL Champagne, HP Spaink… - … Research Part C …, 2011 - Wiley Online Library
Technological innovation has helped the zebrafish embryo gain ground as a disease model
and an assay system for drug screening. Here, we review the use of zebrafish embryos and …

SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms

IYY Szeto, DKH Chu, P Chen, KC Chu… - Proceedings of the …, 2022 - National Acad Sciences
The in vivo mechanisms underlying dominant syndromes caused by mutations in SRY-Box
Transcription Factor 9 (SOX9) and SOX10 (SOXE) transcription factors, when they either are …

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

M Elmaleh-Bergès, C Baumann… - American Journal …, 2013 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and
pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 …

Zebrafish bone and general physiology are differently affected by hormones or changes in gravity

J Aceto, R Nourizadeh-Lillabadi, R Maree… - PloS one, 2015 - journals.plos.org
Teleost fish such as zebrafish (Danio rerio) are increasingly used for physiological, genetic
and developmental studies. Our understanding of the physiological consequences of altered …

Dual embryonic origin of the mammalian otic vesicle forming the inner ear

L Freyer, V Aggarwal, BE Morrow - Development, 2011 - journals.biologists.com
The inner ear and cochleovestibular ganglion (CVG) derive from a specialized region of
head ectoderm termed the otic placode. During embryogenesis, the otic placode invaginates …

Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing

N Obholzer, IA Swinburne, E Schwab… - …, 2012 - journals.biologists.com
Forward genetic screens in zebrafish have identified> 9000 mutants, many of which are
potential disease models. Most mutants remain molecularly uncharacterized because of the …

[HTML][HTML] Sculpting the labyrinth: morphogenesis of the developing inner ear

B Alsina, TT Whitfield - Seminars in Cell & Developmental Biology, 2017 - Elsevier
The vertebrate inner ear is a precision sensory organ, acting as both a microphone to
receive sound and an accelerometer to detect gravity and motion. It consists of a series of …

Semicircular canal morphogenesis in the zebrafish inner ear requires the function of gpr126 (lauscher), an adhesion class G protein-coupled receptor gene

FS Geng, L Abbas, S Baxendale… - …, 2013 - journals.biologists.com
Morphogenesis of the semicircular canal ducts in the vertebrate inner ear is a dramatic
example of epithelial remodelling in the embryo, and failure of normal canal development …