A5046486731- Hearing, Cochlea, Tinnitus, Genetics
- Connexins and lens biology
- Vestibular and auditory disorders
- Retinal Development and Disorders
- Ear Surgery and Otitis Media
- RNA regulation and disease
- Retinal Diseases and Treatments
- RNA and protein synthesis mechanisms
- Biochemical Analysis and Sensing Techniques
- melanin and skin pigmentation
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Connective tissue disorders research
- Erythrocyte Function and Pathophysiology
- RNA modifications and cancer
- Hearing Loss and Rehabilitation
- Photoreceptor and optogenetics research
- Epigenetics and DNA Methylation
- Neuroscience of respiration and sleep
- Cancer-related molecular mechanisms research
- Ion Channels and Receptors
- Mitochondrial Function and Pathology
- Cellular transport and secretion
University of Maryland, Baltimore
2016-2025
University of Maryland, College Park
2024-2025
Johns Hopkins Medicine
2020
Government College University, Faisalabad
2019-2020
Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology
2020
Johns Hopkins University
2020
Washington Center
2018
University of Washington
2018
Cincinnati Children's Hospital Medical Center
2009-2016
University of Cincinnati
2010-2016
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered field. Our knowledge base relevant new technologies also been expanding. Thus, it is important to formulate on a regular basis updated monitoring autophagy different organisms. Despite numerous reviews, there continues be confusion regarding acceptable methods evaluate autophagy, especially multicellular...
Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows graded heights. Calcium and integrin-binding protein 2 is essential for hearing localizes to but its exact function unknown. Here, we have characterized two mutant mouse lines, one lacking calcium carrying a human deafness-related Cib2 mutation, show both deaf exhibit no mechanotransduction auditory cells, despite presence tip links gate mechanotransducer channels....
Abstract The genetic etiologies of more than half rare diseases remain unknown. Standardized genome sequencing and phenotyping large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on efficient powerful analytical methods. We built a compact database, ‘Rareservoir’, containing variant genotypes phenotypes 77,539 participants sequenced by 100,000 Genomes Project. then used Bayesian association method BeviMed to infer associations between genes...
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense PCDH15. This suggests a genotype–phenotype correlation which hypomorphic alleles loss, while more severe this gene result USH1F. We localized 15 inner ear hair cell stereocilia, retinal photoreceptors immunocytochemistry. Our results further...
Sound and acceleration are detected by hair bundles, mechanosensory structures located at the apical pole of cells in inner ear. The different elements bundle, stereocilia a kinocilium, interconnected variety link types. One these links, tip link, connects top shorter stereocilium with lateral membrane an adjacent taller may gate mechanotransducer channel cell. Mass spectrometric Western blot analyses identify tip-link antigen, hitherto unidentified antigen specifically associated kinocilial...
Sound detection by inner ear hair cells requires tip links that interconnect mechanosensory stereocilia and convey force to yet unidentified transduction channels. Current models postulate a static composition of the link, with protocadherin 15 (PCDH15) at lower cadherin 23 (CDH23) upper end link. In terminally differentiated mammalian auditory cells, are subjected sound-induced forces throughout an organism's life. Although can regenerate disrupted restore hearing, molecular details this...
<h3>Background</h3> Oliver–McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon presents similarly, though progressive spinocerebellar ataxia spastic paraplegia without trichomegaly. Both recessively inherited disorders have no known genetic cause. <h3>Methods</h3> Whole-exome sequencing was performed to identify the causes of these disorders. Mutations were functionally validated in zebrafish...
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is candidate disease for gene augmentation therapy. BCM caused by either mutations in the red (OPN1LW) and green (OPN1MW) photoreceptor opsin array or large deletions encompassing portions upstream regulatory sequences that would predict lack expression. The fate opsin-deficient cells unknown. We know rod null mutant mice show rapid postnatal death photoreceptors. Using vivo histology...