A5033573761- Hearing, Cochlea, Tinnitus, Genetics
- Genomics and Rare Diseases
- Hearing Loss and Rehabilitation
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- RNA regulation and disease
- Congenital Heart Disease Studies
- Vestibular and auditory disorders
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Ear Surgery and Otitis Media
- Metabolism and Genetic Disorders
- Fetal and Pediatric Neurological Disorders
- Cancer Genomics and Diagnostics
- Ion channel regulation and function
- Ion Channels and Receptors
- Circadian rhythm and melatonin
- Health, Environment, Cognitive Aging
- Plant Molecular Biology Research
- Biotin and Related Studies
- Connexins and lens biology
- Mitochondrial Function and Pathology
- BRCA gene mutations in cancer
New York Genome Center
2018-2024
Columbia University
2024
National Institute on Deafness and Other Communication Disorders
2010-2019
Baylor College of Medicine
2016-2019
National Institutes of Health
2010-2018
Washington Center
2018
University of Washington
2018
University of Veterinary and Animal Sciences
2017
Northwest A&F University
2012
University of the Punjab
2009-2011
Deafness in humans is a common neurosensory disorder and genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be third or fourth most cause autosomal-recessive, nonsyndromic deafness. In 49 67 exons MYO15A, there are currently 192 recessive identified, including 14 novel reported here. These distributed uniformly across with one enigmatic exception; alternatively spliced giant exon 2, encoding 1,233 residues, has 17 truncating but no...
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping, Sanger and exome sequencing identify 163 DNA variants in 41 previously reported HL 321 families. Of these, 70 (42.9%) identified 29 are novel. As expected from genetic studies disorders consanguineous families, majority affected individuals (94.4%)...
The Cell Division-Cycle-14 gene encodes a dual-specificity phosphatase necessary in yeast for exit from mitosis. Numerous disparate roles of vertebrate (CDC14A) have been proposed largely based on studies cultured cancer cells vitro. vivo functions CDC14A are unknown. We generated and analyzed mutations zebrafish mouse CDC14A, developed computational structural model human protein report four novel truncating three missense alleles families segregating progressive, moderate-to-profound...
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss males females. In many PS subjects, causative variants have not been found the five reported genes. The objective of this study was to identify genetic cause an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) completed on four affected members large family, co-segregation confirmed Sanger...
The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison profound deafness. We recruited 92 consanguineous families segregating stable or progressive, loss. utilized homozygosity mapping, Sanger sequencing, targeted capture known deafness genes with massively parallel sequencing and whole exome identify the molecular basis these families. Variants were found 69% participating SLC26A4,...
TRIOBP remodels the cytoskeleton by forming unusually dense F-actin bundles and is implicated in human cancer, schizophrenia, deafness. Mutations ablating mouse TRIOBP-4 TRIOBP-5 isoforms are associated with profound deafness, as inner ear mechanosensory hair cells degenerate after stereocilia rootlets fail to develop. However, mechanisms regulating formation of each isoform remain unknown. Using 3 new Triobp models, we report that essential for thickening rootlets, establishing their mature...
Protein–protein interactions (PPIs) regulate assembly of macromolecular complexes, yet remain challenging to study within the native cytoplasm where they normally exert their biological effect. Here we miniaturize concept affinity pulldown, a gold-standard in vitro PPI interrogation technique, perform nanoscale pulldowns (NanoSPDs) living cells. NanoSPD hijacks normal process intracellular trafficking by myosin motors forcibly pull fluorescently tagged protein complexes along filopodial...
Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause infant mortality and often caused by genetic disorders, yet the utility rGS not prospectively studied in this population.We conducted prospective evaluation infants with complex CHD our cardiac neonatal intensive unit.In cohort 48 CHD, diagnosed 14 disorders 13 (27%) individuals led changes clinical management 8 (62%) cases diagnostic results. These...
KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel-complex. Both and are necessary for normal hearing cardiac ventricular repolarization. Recessive variants in these genes associated with Jervell Lange-Nielson syndrome (JLNS1 JLNS2), cardio-auditory characterized by congenital profound sensorineural deafness prolonged QT interval that can cause arrhythmias sudden death. Some normal-hearing carriers heterozygous missense have intervals, dominantly inherited phenotype designated...