A5030560740- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Ocular Disorders and Treatments
- Corneal surgery and disorders
- Connexins and lens biology
- Retinopathy of Prematurity Studies
- RNA regulation and disease
- Advanced biosensing and bioanalysis techniques
- CRISPR and Genetic Engineering
- Genetic and Kidney Cyst Diseases
- Photoreceptor and optogenetics research
- Retinal and Optic Conditions
- Cellular transport and secretion
- Genomics and Rare Diseases
- Ocular Diseases and Behçet’s Syndrome
- Retinal Imaging and Analysis
- Ophthalmology and Eye Disorders
- Genomic variations and chromosomal abnormalities
- Cell Adhesion Molecules Research
- Hedgehog Signaling Pathway Studies
- Social Media and Politics
- Connective tissue disorders research
- Politics and Conflicts in Afghanistan, Pakistan, and Middle East
- Bariatric Surgery and Outcomes
The University of Agriculture, Peshawar
2024
Gomal University
2012-2024
Radboud University Medical Center
2014-2023
Radboud University Nijmegen
2014-2023
Khyber Medical College
2012-2023
The University of Sydney
2023
Khyber Teaching Hospital
2023
Relief International
2023
COMSATS University Islamabad
2010-2021
Combined Military Hospital
2021
PurposeUsing exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored Stargardt disease (STGD1) as a model to identify missing heritability.MethodsSequencing of ABCA4 was performed 8 STGD1 cases one variant and p.Asn1868Ile trans, 25 variant, 3 no variant. The effect intronic analyzed using vitro splice assays HEK293T cells patient-derived fibroblasts. Antisense oligonucleotides were used correct defects.ResultsIn 24 probands...
Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal performing clinical mapping majority patients. To date, we recruited 2,420 families including 3,413 individuals IRDs. On basis our estimation, these patients represent approximately 40% best knowledge, this is, by far, largest reported cohort, one...
<h3>Background</h3> Retinitis pigmentosa (RP) is the most frequent inherited retinal disease, which shows a relatively high incidence of autosomal-recessive form in Pakistan. <h3>Methods</h3> Genome-wide high-density single-nucleotide polymorphism (SNP) microarrays were used to identify homozygous regions shared by affected individuals one consanguineous family. DNA three and two healthy siblings was for SNP genotyping. Genotyping data then analysed Homozygosity Mapper. proband further...
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed develop a cost-effective sequencing method for ABCA4 exons and regions carrying known causal deep-intronic variants. Methods Fifty 12 containing 14 variants of were sequenced using double-tiled single molecule Molecular Inversion Probe (smMIP)-based next-generation sequencing. DNAs 16 STGD1 cases 29 alleles four healthy...
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...
Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS five individuals. To evaluate role mutations other forms syndromic CA, we performed Sanger or exome sequencing 51 unrelated...
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) frequent cause blindness in children. The phenotypic overlap with other early-onset IRDs as well difficulties associated ophthalmic examination infants can complicate clinical diagnosis. To date, 25 genes have been implicated pathogenesis LCA. disorder usually an autosomal recessive fashion, although rare dominant cases reported. We report mutation spectra frequency 27 German...
To provide the first detailed clinical description in patients with RP caused by recessive mutations IMPG2.This international collaborative study includes 17 inherited retinal disease IMPG2. The were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, photography, and color vision tests. main outcome measures included mean age at onset, initial...
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding presumptive intracellular chloride channel highly expressed the retina, associated with autosomal recessive retinitis pigmentosa (arRP) eight consanguineous families of Pakistani descent. The p.D25E decreased CLCC1 function accompanied by accumulation mutant protein granules within ER lumen, while siRNA knockdown mRNA induced apoptosis cultured ARPE-19 cells. TALEN KO zebrafish was lethal 11 days post...
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify disruptive Alu insertion nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither which rare alleles Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease homozygosis or heterozygosis, yet significantly enriched HRD patients 2.1%,...
Stroke is a major cause of disability and mortality among hypertensive elderly patients. Understanding its frequency associated risk factors crucial for prevention management. Objective: This study aimed to determine the stroke identify old aged Methodology: A cross-sectional was conducted at tertiary care hospital over six months. Participants included 150 patients (86 males, 64 females) with mean age 57.4 ± 7.1 years. Data were collected through structured interviews medical record...
Journal Article Superficial acral fibromyxoma: a clinicopathological study of new 41 cases from the U.K.: should myxoma (NOS) and fibroma continue as part 21st‐century reporting? Get access R.J. Prescott, Prescott Department Pathology, Blackburn Royal Infirmary, Blackburn, U.K. *Department London Hospital, London, †Department Surgery, Lancaster Lancaster, ‡Department Radiology, University Nottingham, §Division School Molecular Sciences, Queen's Medical Centre, Nottingham NG7 2UH, ¶Department...
Abstract Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, antenna-like organelle acts as cell’s signaling hub. In current study, a combination of mutation screening, targeted sequencing ciliopathy whole-exome was used for genetic characterization five families including four classic BBS symptoms one BBS-like syndrome. This...
Background Primary congenital glaucoma (PCG) is the most common form of in children. PCG occurs due to developmental defects trabecular meshwork and anterior chamber eye. The purpose this study identify causative genetic variants three families with primary a recessive inheritance pattern. Methods DNA samples were obtained from consanguineous Pakistani ancestry. CYP1B1 gene was sequenced affected probands by conventional Sanger sequencing. Whole exome sequencing (WES) performed four...
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),...
Axenfeld–Rieger syndrome (ARS) is a disorder affecting the anterior segment of eye, often leading to secondary glaucoma and several systemic malformations. It inherited in an autosomal dominant fashion that has been associated with genetic defects PITX2 FOXC1. Known genes CYP1b1, PITX2, FOXC1 were excluded by Sanger sequencing. The purpose current study identify underlying causes ARS family whole exome sequencing (WES). WES was performed for affected proband family, variants prioritized...
Mutations in Eyes shut homolog (EYS) are one of the most common causes autosomal recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function EYS protein and pathogenic mechanisms underlying EYS-associated RP still poorly understood, which hampers interpretation causality many variants discovered to date. We collected all reported present 377 arRP index cases published before June 2017, uploaded them Leiden Open Variation Database (www.LOVD.nl/EYS). also...