Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

D Baldridge, MF Wangler, AN Bowman… - Orphanet Journal of …, 2021 - Springer
Decreased sequencing costs have led to an explosion of genetic and genomic data. These
data have revealed thousands of candidate human disease variants. Establishing which …

Usher syndrome: genetics of a human ciliopathy

C Fuster-García, B García-Bohórquez… - International journal of …, 2021 - mdpi.com
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by
sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction …

The BDNF/TrkB neurotrophin system in the sensory organs of zebrafish

M Aragona, C Porcino, MC Guerrera… - International journal of …, 2022 - mdpi.com
The brain-derived neurotrophic factor (BDNF) was discovered in the last century, and
identified as a member of the neurotrophin family. BDNF shares approximately 50% of its …

Environmentally relevant concentrations of F–53B induce eye development disorders-mediated locomotor behavior in zebrafish larvae

L Wu, M Zeeshan, Y Dang, LY Liang, YC Gong, QQ Li… - Chemosphere, 2022 - Elsevier
The perfluorooctane sulfonate alternative, F–53B, induces multiple physiological defects but
whether it can disrupt eye development is unknown. We exposed zebrafish to F–53B at four …

Animal models in eye research: focus on corneal pathologies

A Loiseau, G Raîche-Marcoux, C Maranda… - International Journal of …, 2023 - mdpi.com
The eye is a complex sensory organ that enables visual perception of the world. The
dysfunction of any of these tissues can impair vision. Conduction studies on laboratory …

Rapid assessment of ocular toxicity from environmental contaminants based on visually mediated zebrafish behavior studies

J Yi, Y Ma, J Ma, H Yu, K Zhang, L Jin, Q Yang, D Sun… - Toxics, 2023 - mdpi.com
The presence of contaminants in the environment has increased in recent years, and studies
have demonstrated that these contaminants have the ability to penetrate the blood–retinal …

Usherin defects lead to early-onset retinal dysfunction in zebrafish

M Dona, R Slijkerman, K Lerner, S Broekman… - Experimental eye …, 2018 - Elsevier
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal
recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms …

The genetics of hair-cell function in zebrafish

T Nicolson - Journal of Neurogenetics, 2017 - Taylor & Francis
Our ears are remarkable sensory organs, providing the important senses of balance and
hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted …

RNA-binding protein Rbm24 as a multifaceted post-transcriptional regulator of embryonic lineage differentiation and cellular homeostasis

R Grifone, M Shao, A Saquet, DL Shi - Cells, 2020 - mdpi.com
RNA-binding proteins control the metabolism of RNAs at all stages of their lifetime. They are
critically required for the post-transcriptional regulation of gene expression in a wide variety …

Zebrafish model in ophthalmology to study disease mechanism and drug discovery

Y Hong, Y Luo - Pharmaceuticals, 2021 - mdpi.com
Visual impairment and blindness are common and seriously affect people's work and quality
of life in the world. Therefore, the effective therapies for eye diseases are of high priority …