A5006451534- Retinal Development and Disorders
- Kidney Stones and Urolithiasis Treatments
- Forensic and Genetic Research
- Bone and Dental Protein Studies
- Digestive system and related health
- Renal Diseases and Glomerulopathies
- Connexins and lens biology
- T-cell and B-cell Immunology
- Retinal Diseases and Treatments
- Genetic diversity and population structure
- Race, Genetics, and Society
- RNA regulation and disease
- Glaucoma and retinal disorders
- melanin and skin pigmentation
- Porphyrin Metabolism and Disorders
- COVID-19 Clinical Research Studies
- Angiogenesis and VEGF in Cancer
- Ocular Disorders and Treatments
- Diabetes and associated disorders
- HIV Research and Treatment
- Yersinia bacterium, plague, ectoparasites research
- Genomics, phytochemicals, and oxidative stress
- Hedgehog Signaling Pathway Studies
- Genetic and Kidney Cyst Diseases
- Forensic Anthropology and Bioarchaeology Studies
University of Health Sciences Lahore
2014-2024
Sindh Institute of Urology and Transplantation
2009-2022
CMH Lahore Medical College and Institute of Dentistry
2018-2021
University of Health Science
2021
University of Health Sciences
2021
Health and Human Development (2HD) Research Network
2021
University of Karachi
2007-2008
Institute of Biomedical and Genetic Engineering
1998-2007
Czech Academy of Sciences, Institute of Biotechnology
2007
Summary Mitochondrial aldehyde dehydrogenase (ALDH2) is one of the most important enzymes in human alcohol metabolism. The oriental ALDH2*504Lys variant functions as a dominant negative, greatly reducing activity heterozygotes and abolishing homozygotes. This allele associated with serious disorders such liver disease, late onset Alzheimer colorectal cancer, esophageal best known for protection against alcoholism. Many hundreds papers various languages have been published on this variant,...
<h3>Objectives</h3> To describe the phenotype of Leber congenital amaurosis (LCA) in 26probands with mutations aryl hydrocarbon receptor interacting protein-like1 protein (<i>AIPL1</i>) and compare it phenotypesof other LCA-related genes. electroretinogram (ERG) heterozygotecarriers. <h3>Methods</h3> Patients with<i>AIPL1</i>-related LCA were identifiedin a cohort 303 patients by polymerase chain reaction single-strandconfirmational polymorphism mutation screening and/or direct sequencing....
The vertebrate basic helix–loop–helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and required for genesis of retinal ganglion cells (RGCs) optic nerves. In Atoh7 mutant mice, absence trophic factors secreted by RGCs prevents development intrinsic vasculature regression fetal blood vessels, causing persistent hyperplasia primary vitreous (PHPV). We therefore screened patients with hereditary PHPV, as well bilateral nerve aplasia (ONA) or...
The Kalash represent an enigmatic isolated population of Indo-European speakers who have been living for centuries in the Hindu Kush mountain ranges present-day Pakistan. Previous Y chromosome and mitochondrial DNA markers provided no support their claimed Greek descent following Alexander III Macedon's invasion this region, analysis autosomal loci evidence a strong genetic bottleneck. To understand origins demography further, we genotyped 23 unrelated samples on Illumina HumanOmni2.5M-8...
The Parsis are one of the smallest religious communities in world. To understand population structure and demographic history this group detail, we analyzed Indian Pakistani Parsi populations using high-resolution genetic variation data on autosomal uniparental loci (Y-chromosomal mitochondrial DNA). Additionally, also assayed DNA polymorphisms among ancient samples excavated from Sanjan, present day Gujarat, place their original settlement India. Among present-day populations, genetically...
Inactivation of the p53 gene has been found to be associated with pathogenesis several neoplasias. Three biallelic polymorphisms in have linked predisposition development various malignancies. These include a 16-bp duplication intron 3 and BstU I Msp restriction fragment length (RFLPs) exon 4 6, respectively. The prevalence these was studied breast cancer patients nine major ethnic groups Pakistan. Differences allele frequencies for all three were observed among patients. absence common...
Abstract: The extreme polymorphism found at some of the loci HLA system has made it an invaluable tool for population genetic analyses. In this study six Pakistani ethnic groups was investigated HLA‐A, ‐B, ‐C, ‐DRB and DQB1 using polymerase chain reaction with sequence specific primers. included in are Baloch, Brahui Sindhi from south Burusho, Kalash Pathan north Pakistan. allele frequencies, three‐locus haplotype frequencies ‐B ‐DRB1 given. Variation distribution between observed. A...
Abstract Allelic frequencies of 182 tri‐ and tetra‐autosomal microsatellites were used to examine phylogenetic relationships among 19 extant human populations. In particular, because the languages Basques Hunza Burusho have been suggested an ancient relationship, this study sought explore genetic relationship between these two major language isolate populations compare them with other The work presented here shows that microsatellite allelic diversity number unique alleles highest in...
Vascular endothelial growth factor (VEGF) protein plays an important role in tumor development and progression. Polymorphisms the VEGF gene may lead to over- or underexpression of be associated with either risk progression malignancy. The aim this case-control study is identify quantify correlation between polymorphisms renal cell carcinoma (RCC).Restriction fragment length polymorphism methods were used for analysis at -2578 +936 positions promoter 3'-untranslated regions, respectively....
The primary hyperoxalurias are rare disorders of glyoxylate metabolism. Accurate diagnosis is essential for therapeutic and management strategies. We conducted a molecular study on patients suffering from recurrent calcium-oxalate stones nephrocalcinosis screened hyperoxaluria causing genes in large cohort early-onset cases. Disease-associated pathogenic-variants were defined as missense, nonsense, frameshift-indels, splice-site variants with reported minor allele frequency <1% controls....