Andrew J. Griffith
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SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac Open
Decreased presence or activity of human SLC26A4 at the plasma membrane is a common cause of hearing loss. SLC26A4 (Pendrin) is necessary for normal reabsorption of endolymph, the fluid bathing the inner ear. We identified the μ2 subunit of…
O-271 Two component resolution of mosaic samples in PGT-A: primary template amplification (PTA) and independent analysis using copy-number variation and allelic balance Open
Study question How does accurate, unbiased whole genome amplification and tiered, independent, two component analysis impact PGT-A results? Summary answer When compared to previous methods a PGT-A workflow utilizing PTA followed by a CNV a…
Small Molecule MIF Modulation Enhances Ferroptosis by Impairing DNA Repair Mechanisms Open
Ferroptosis is a form of regulated cell death that can be modulated by small molecules and has the potential for the development of therapeutics for oncology. Although excessive lipid peroxidation is the defining hallmark of ferroptosis, D…
Transgenic Tg(Kcnj10-ZsGreen) Fluorescent Reporter Mice Allow Visualization of Intermediate Cells in the Stria Vascularis Open
The stria vascularis (SV) is a stratified epithelium in the lateral wall of the mammalian cochlea, responsible for both endolymphatic ion homeostasis and generation of the endocochlear potential (EP) critical for normal hearing. The SV has…
View article: Variants of <scp> <i>LRP2</i> </scp> , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy
Variants of <span> <i>LRP2</i> </span> , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy Open
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The pr…
Potential therapy for progressive vision loss due to <i>PCDH15</i> -associated Usher Syndrome developed in an orthologous Usher mouse Open
Usher syndrome type I (USH1) is characterized by congenital deafness, vestibular areflexia, and progressive retinal degeneration with age. The protein-truncating p.Arg245* founder variant of PCDH15 has an ~2% carrier frequency among Ashken…
Dissection of the Endolymphatic Sac from Mice Open
The study of mutant mouse models of human hearing and balance disorders has unraveled many structural and functional changes which may contribute to the human phenotypes. Although important progress has been done in the understanding of th…
View article: Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Open
Purpose The ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specifi…
View article: Vestibular <scp>phenotype‐genotype</scp> correlation in a cohort of 90 patients with Usher syndrome
Vestibular <span>phenotype‐genotype</span> correlation in a cohort of 90 patients with Usher syndrome Open
Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome …
View article: Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components
Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components Open
The TMC genes encode a set of homologous transmembrane proteins whose functions are not well understood. Biallelic mutations in either TMC6 or TMC8 are detected in more than half of cases of the pre-malignant skin disease epidermodysplasia…
View article: Atypical and ultra-rare Usher syndrome: a review
Atypical and ultra-rare Usher syndrome: a review Open
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping effor…
Genetic Hearing Loss Associated With Autoinflammation Open
Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mut…
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct Open
CEVA, acting as a likely pathogenic recessive allele, is associated with a less severe phenotype than alleles with a mutation affecting the coding regions or splice sites of SLC26A4. CEVA may act as a genetic modifier in patients with EVA …
View article: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Open
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpret…
View article: Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss Open
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation…
View article: Molecular architecture underlying fluid absorption by the developing inner ear
Molecular architecture underlying fluid absorption by the developing inner ear Open
Mutations of SLC26A4 are a common cause of hearing loss associated with enlargement of the endolymphatic sac (EES). Slc26a4 expression in the developing mouse endolymphatic sac is required for acquisition of normal inner ear structure and …