A5087894350- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Retinopathy of Prematurity Studies
- Botanical Research and Applications
- Retinal Development and Disorders
- Connexins and lens biology
- Polysaccharides Composition and Applications
- Ophthalmology and Eye Disorders
- Genomics and Rare Diseases
- Polysaccharides and Plant Cell Walls
- Retinal Imaging and Analysis
- Bladder and Urothelial Cancer Treatments
- Carbohydrate Chemistry and Synthesis
- Vestibular and auditory disorders
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Hedgehog Signaling Pathway Studies
- Cell death mechanisms and regulation
- Genetic and Kidney Cyst Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Ocular Diseases and Behçet’s Syndrome
- MicroRNA in disease regulation
- Circular RNAs in diseases
- Lipoproteins and Cardiovascular Health
Pak-Austria Fachhochschule: Institute of Applied Sciences and Technology
2020-2023
COMSATS University Islamabad
2010-2023
Pakistan Institute of Engineering and Applied Sciences
2023
Radboud University Nijmegen
2014-2015
Radboud University Medical Center
2014-2015
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% the families carry mutations GJB2 while MYO15A account for about 5% deafness. In present study a cohort 30 ARNSHL was initially screened and MYO15A. Homozygosity mapping performed by employing whole genome single nucleotide polymorphism (SNP) genotyping that did not or Mutation analysis known genes homozygous regions to determine causative mutations....
Background: Guar gum is a water-soluble polysaccharide called galactomannan, obtained from the endosperm of Cyamopsis tetragonolobus, plant belonging to Leguminosae family. Galactomannan biopolymer rich in functional groups, particularly hydroxyl which expand possibilities its chemical modification and, therefore, biological applications. Objective: This review aims present and discuss various methods used preparation guar composites their applications biomedical, pharmaceutical, food...
Background Homozygosity mapping has facilitated the identification of genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge also resulted a mutation dataset that can be used cost and time effective manner to screen frequent population-specific variations associated diseases such as retinal disease (IRD). Methods We genetically screened 13 from cohort 81 Pakistani IRD diagnosed Leber congenital amaurosis (LCA),...
Abstract LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of extracellular matrix and frequent cause chronic open-angle glaucoma. However, all known PEX-associated common variants show allele reversal populations different ancestry, casting doubt on their biological significance. Based extensive deep sequencing, we report here identification non-coding sequence variant, rs7173049A>G, located downstream...
Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals ID identified novel genes implicated in the disease. Therefore purpose present study was to identify genetic cause one syndromic and two non-syndromic Pakistani families. Whole three probands sequenced. Missense variations plausible autosomal recessive were identified: lysine (K)-specific methyltransferase 2B (KMT2B), zinc finger protein 589 (ZNF589), as well...
CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG), and mutations have also been identified open-angle (POAG). This study was undertaken to describe patients families with PCG POAG from Pakistan.Case-control series.Forty families, 190 sporadic cases 140 controls Pakistan.Patients healthy individuals of one consanguineous Pakistani family were genotyped high-resolution single nucleotide polymorphism microarrays. Homozygosity mapping performed using...
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes coding for low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type-9 (PCSK9) or apo-lipoprotein B-100 (APOB). The aim of present work was to determine genetic basis dyslipidemia 11 unrelated Pakistani families. High resolution melting (HRM), sequencing and restriction fragment length polymorphism (RFLP). Probands were screened promoter all regions, including...
Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal current study is to investigate role these two genes, disulphide isomerase A member 5 (PDIA5) baculoviral IAP repeat containing 6 (BIRC6), different forms glaucoma. 278 patients with POAG, 132 closure (PACG) 135 pseudoexfoliative (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 PDIA5 471 184 PACG 218 PEXG rs2754511...
Background Recently nonsynonymous coding variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene were found to be associated with primary open angle glaucoma (POAG) cohorts from Oregon Germany, but this finding was not confirmed an independent cohort Iowa. The aim current study assess role ASB10 Pakistani patients. Methods Sanger sequencing exons splice junctions performed 30 probands multiplex POAG families, 208 sporadic patients 151...
Abstract Age‐related macular degeneration (AMD) is a disease of the elderly in which central vision lost because degenerative changes macula. The current study investigated association single‐nucleotide polymorphisms (SNPs) with AMD Pakistani population. Four SNPs were analyzed this study: rs1061170 CFH , rs429608 near CFB rs2230199 C3 and rs10490924 ARMS2 / HTRA1 . This case‐control was conducted on 300 patients (125 wet 175 dry AMD) 200 unaffected age‐ gender‐matched control individuals....