A5086770122- Hearing, Cochlea, Tinnitus, Genetics
- RNA and protein synthesis mechanisms
- Wnt/β-catenin signaling in development and cancer
- RNA modifications and cancer
- RNA regulation and disease
- Genomics and Phylogenetic Studies
- Developmental Biology and Gene Regulation
- Metabolism and Genetic Disorders
- Hippo pathway signaling and YAP/TAZ
- Autoimmune Bullous Skin Diseases
- Connexins and lens biology
- Machine Learning in Bioinformatics
- Respiratory viral infections research
- Erythrocyte Function and Pathophysiology
- Congenital heart defects research
- Skin and Cellular Biology Research
- CAR-T cell therapy research
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Cancer Research and Treatments
- Ear Surgery and Otitis Media
- Cancer Genomics and Diagnostics
University of the Punjab
2025
University of Maryland, Baltimore
2020-2025
Centre of Excellence in Molecular Biology
2025
Humans and mice with mutations in genes encoding CIB2 whirlin (WHRN) are deaf. We previously reported that binds to WHRN is essential for stereocilia staircase architecture of cochlear hair cells. Here, we refine the interaction domains both proteins show these play unique roles bundle formation organization. found EF2 domain HHD2 region WHRN. AlphaFold2 multimer independently identified same interacting regions gave a thorough structural model. Next, investigated genetic between murine Cib2...
Abstract Oligodendrocyte progenitor cells (OPCs) express protocadherin 15 (Pcdh15), a member of the cadherin superfamily transmembrane proteins. Little is known about function Pcdh15 in central nervous system (CNS), however, expression can predict glioma aggression and promote separation embryonic human OPCs immediately following cell division. Herein, we show that knockdown significantly increases extracellular signal-related kinase (ERK) phosphorylation activation to enhance OPC...
Epidermolysis bullosa (EB) includes a group of rare gesnodermatoses that result in blistering and erosions the skin mucous membranes. Genetically, pathogenic variants around 20 genes are known to alter structural functional integrity intraepidermal adhesion dermo-epidermal anchorage, leading four different types EB. Here we report underlying genetic causes EB phenotypes segregating seven large consanguineous families, recruited from regions Pakistan. Whole exome sequencing, followed by...
Hearing impairment (HI) is a common disorder of sensorineural function with highly heterogeneous genetic background. Although substantial progress has been made in the understanding etiology hereditary HI, many genes implicated HI remain undiscovered. Via exome and Sanger sequencing DNA samples obtained from consanguineous Pakistani families that segregate profound prelingual we identified rare homozygous missense variants four (ADAMTS1, MPDZ, MVD, SEZ6) are likely underlying cause HI....
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which clinically and genetically heterogeneous. Genome sequencing identified biallelic
Summary Variations in genes coding for calcium and integrin binding protein 2 (CIB2) whirlin cause deafness both humans mice. We previously reported that CIB2 binds to whirlin, is essential normal staircase architecture of auditory hair cells stereocilia. Here, we refine the interacting domains between these proteins provide evidence have distinct role development organization stereocilia bundles required transduction. Using a series deletion constructs nanoscale pulldown (NanoSPD) assays,...
Congenital hearing impairment (HI) is a genetically highly heterogeneous disorder in which prompt recognition and intervention are crucial to optimize outcomes. In this study, we used exome sequencing investigate large consanguineous Pakistani family with eight affected individuals showing bilateral severe-to-profound HI. This identified homozygous splice region variant STX4 (c.232 + 6T>C), causes exon skipping frameshift, that segregated HI (two-point logarithm of odds (LOD) score = 5.9)....