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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
(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 …
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
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 …
part, by reprogramming self-renewal and maturation of fetal neural stem cells (NSCs) during …