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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
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...
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Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive pigmentary retinopathy, and...
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Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive...
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Decreased activity of piriform cortex and orbitofrontal hyperactivation in Usher Syndrome, a human disorder of ciliary dysfunction
Usher syndrome (USH) is a condition characterized by ciliary dysfunction leading to retinal degeneration and hearing/vestibular loss. Putative...
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP)...
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Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges
Hereditary hearing impairment (HI) is a heterogeneous condition with over 130 genes associated with genetic non-syndromic HI (NSHI) and Usher...
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Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
Non-syndromic hearing loss (NSHL) is characterized by a vast genetic heterogeneity; some syndromic forms as Usher syndrome (USH) have onset as...
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The genetic landscape of inherited retinal dystrophies in Arabs
Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically,...
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CRISPR/Cas systems usher in a new era of disease treatment and diagnosis
The discovery and development of the CRISPR/Cas system is a milestone in precise medicine. CRISPR/Cas nucleases, base-editing (BE) and prime-editing...
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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
BackgroundMutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)...
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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
BackgroundPreimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the...
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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
BackgroundUsher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that...
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Fragile X Syndrome and Premutation Disorders
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID) and the most common known single-gene cause of autism...
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Fragile X Syndrome and Premutation Disorders
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID) and the most common known single-gene cause of autism...
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Optimization of Capillary-Based Western Blotting for MYO7A
Myosin VIIA (MYO7A)-associated Usher syndrome type 1B (USH1B) is a severe disorder that impacts the auditory, vestibular, and visual systems of...
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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover,...
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Hearing loss in Africa: current genetic profile
Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported to date, mostly from studies among Europeans and Asians....
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Genetic etiology of hearing loss in Iran
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world’s population. There has been an exponential increase...
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A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report
BackgroundUsher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a...
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USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting...