The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

S Delmaghani, A El-Amraoui - Human Genetics, 2022 - Springer
Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Family-centered early intervention deaf/hard of hearing (FCEI-DHH): Guiding Values

MP Moeller, A Szarkowski, E Gale… - Journal of Deaf …, 2024 - academic.oup.com
This article is the second of eight articles in this special issue on Family-Centered Early
Intervention (FCEI) for children who are deaf or hard of hearing (DHH) and their families, or …

[HTML][HTML] Expression of two major isoforms of MYO7A in the retina: considerations for gene therapy of Usher syndrome type 1B

WB Gilmore, NW Hultgren, A Chadha, SB Barocio… - Vision research, 2023 - Elsevier
Usher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the
MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor …

Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B

SC Lau, M Grati, K Isgrig, M Sinan, KR Calabro… - … Therapy-Methods & …, 2023 - cell.com
Usher syndrome is the most common cause of deafness-blindness in the world. Usher
syndrome type 1B (USH1B) is associated with mutations in MYO7A. Patients with USH1B …

Outcomes of gene panel testing for sensorineural hearing loss in a diverse patient cohort

EN Liao, E Taketa, NI Mohamad… - JAMA Network Open, 2022 - jamanetwork.com
Importance A genetic diagnosis can help elucidate the prognosis of hearing loss, thus
significantly affecting management. Previous studies on diagnostic yield of hearing loss …

A systematic review of the clinical evidence for an association between type I hypersensitivity and inner ear disorders

B Zeng, E Domarecka, L Kong, H Olze… - Frontiers in …, 2024 - frontiersin.org
Inner ear disorders have a variety of causes, and many factors can contribute to the
exacerbation of cochlear and vestibular pathology. This systematic review aimed to analyze …

[HTML][HTML] Translocator protein (18 kDa)(Tspo) in the retina and implications for ocular diseases

M Hector, T Langmann, A Wolf - Progress in Retinal and Eye Research, 2024 - Elsevier
Abstract Translocator protein (18 kDa)(Tspo), formerly known as peripheral benzodiazepine
receptor is a highly conserved transmembrane protein primarily located in the outer …

The usherin mutation c. 2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1

L Tebbe, ML Mwoyosvi, R Crane, MS Makia… - Nature …, 2023 - nature.com
Usher syndrome (USH) is the leading cause of combined deafness-blindness with type 2 A
(USH2A) being the most common form. Knockout models of USH proteins, like the Ush2a …

Syndromic Retinitis Pigmentosa

JS Karuntu, H Almushattat, AS Plomp… - Progress in Retinal and …, 2024 - Elsevier
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …

Sex differences in the transcriptome of extracellular vesicles secreted by fetal neural stem cells and effects of chronic alcohol exposure

DD Chung, AH Mahnke, MR Pinson, NA Salem… - Biology of Sex …, 2023 - Springer
Background Prenatal alcohol (ethanol) exposure (PAE) results in brain growth restriction, in
part, by reprogramming self-renewal and maturation of fetal neural stem cells (NSCs) during …