MYH9: Structure, functions and role of non-muscle myosin IIA in human disease
A Pecci, X Ma, A Savoia, RS Adelstein - Gene, 2018 - Elsevier
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed
cytoplasmic myosin that participates in a variety of processes requiring the generation of …
cytoplasmic myosin that participates in a variety of processes requiring the generation of …
Autosomal dominant non-syndromic hearing loss (DFNA): a comprehensive narrative review
M Aldè, G Cantarella, D Zanetti, L Pignataro… - Biomedicines, 2023 - mdpi.com
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …
Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care
AE Shearer, RJH Smith - Otolaryngology–Head and Neck …, 2015 - journals.sagepub.com
Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
Genetics of Usher syndrome: new insights from a meta-analysis
G Jouret, C Poirsier, M Spodenkiewicz… - Otology & …, 2019 - journals.lww.com
Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …
Identifying children with poor cochlear implantation outcomes using massively parallel sequencing
Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations
Objectives To investigate speech and language outcomes in children with cochlear implants
(CIs) who had mutations in common deafness genes and to compare their performances …
(CIs) who had mutations in common deafness genes and to compare their performances …
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
Y Yuan, Q Li, Y Su, Q Lin, X Gao, H Liu… - European Journal of …, 2020 - nature.com
Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in
more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study …
more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study …
Whole-exome sequencing and its impact in hereditary hearing loss
Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …
revolution. These technologies, especially whole-exome sequencing, have become the …
Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population
CC Wu, CY Tsai, YH Lin, PY Chen, PH Lin, YF Cheng… - Genes, 2019 - mdpi.com
Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused
by mutations in a plethora of deafness genes. Research over the past few decades has …
by mutations in a plethora of deafness genes. Research over the past few decades has …
ABO genotyping with next‐generation sequencing to resolve heterogeneity in donors with serology discrepancies
BACKGROUND ABO subtypes are characterized by the alteration of antigens present and
their expression levels on red blood cells and many are linked to genetic changes in the …
their expression levels on red blood cells and many are linked to genetic changes in the …