A5066013312- Skin and Cellular Biology Research
- Wnt/β-catenin signaling in development and cancer
- RNA regulation and disease
- Facial Trauma and Fracture Management
- Dermatological and Skeletal Disorders
- Hedgehog Signaling Pathway Studies
- Genetic and rare skin diseases.
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Hair Growth and Disorders
- Retinal Diseases and Treatments
- RNA Research and Splicing
- Hypertrophic osteoarthropathy and related conditions
- Hearing, Cochlea, Tinnitus, Genetics
- Connective tissue disorders research
- Genomics and Rare Diseases
- Photoreceptor and optogenetics research
- Dental Radiography and Imaging
- Genetic and Kidney Cyst Diseases
- Retinal Development and Disorders
- Cell Adhesion Molecules Research
- Digestive system and related health
- Growth Hormone and Insulin-like Growth Factors
- Erythrocyte Function and Pathophysiology
Yale University
2023-2025
Quaid-i-Azam University
2015-2024
Hayatabad Medical Complex
2020-2024
COMSATS University Islamabad
2019-2023
Abbottabad University of Science and Technology
2021-2023
Abbott (United Kingdom)
2022
Khyber Girls Medical College
2021
Khyber Medical College
2021
University of Colorado Denver
2016-2017
Faculty (United Kingdom)
2017
Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown.
Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations. Sequence variants in the gene DCAF17, encoding nucleolar substrate receptor, were identified as underlying cause of inherited WSS. Considerable phenotypic heterogeneity exists WSS with regard to severity, organs involvement age onset, both inter-familial...
Digenic inheritance is the simplest model of oligenic disease. It can be observed when there a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms digenic have been reported. We performed exome sequencing in Pakistani family with profound hereditary impairment to identify genetic cause found that this displays for trans heterozygous missense mutations, one PCDH15 [p.(Arg1034His)] another USH1G [p.(Asp365Asn)]. Both these genes...
Background: Inherited isolated nail clubbing is a very rare Mendelian condition in humans, characterized by enlargement of the terminal segments fingers and toes with thickened nails. Mutations two genes have been reported to cause which are SLCO2A1 gene HPGD gene. Objectives: An extended Pakistani family having affected siblings born unaffected consanguineous union was included study. Predominant congenital (ICNC) without any other systemic abnormalities observed, we aimed characterize at...
Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of abnormalities dysplasia. Both autosomal recessive dominant inheritance fashion PHNED occurs. In literature, to date, five different forms have been reported at molecular level, having three genes known two loci with no gene yet. this study, four generations consanguineous family Pakistani origin was investigated. Affected members exhibited phenotypes involvement complete loss To screen for mutation in the (HOXC13,...
Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although few exhibit apparent recessive inheritance.To identify the gene underlying PSEK large Pakistani kindred.We first carried out autozygosity mapping using microsatellite markers candidate regions of...
Abstract Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap caused by abnormalities in the structure or function cellular cilia. As such, precise molecular diagnosis is important for guiding clinical management genetic counseling. In present study, two Pakistani families comprising individuals with overlapping features suggestive ciliopathy syndrome, including intellectual disability, obesity, congenital retinal dystrophy,...
Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.Homozygosity mapping, exome, Sanger sequencing employed to search for disease-causing variants 10 families.Exome identified seven homozygous sequence different families, including: c.27delT FERMT1; c.836delA ABHD5; c.2453C>T ERCC5; c.5314C>T COL7A1;...
Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with no UV sensitivity.We identified three consanguineous Pakistani families varied TTDN features used homozygosity mapping, linkage analysis, Sanger exome sequencing in order identify pathogenic variants. Haplotype analysis was performed haplotype age...
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Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. The presents prominent clinical features, including alopecia, defects, neurological findings progressive hearing loss. condition results from mutations the DCAF17 gene.To search for underlying genetic defect Pakistani family with WSS phenotypes.Whole exome sequencing was used to disease-causing variant.Analysis of data revealed start loss sequence variant (c.1A>G,...
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease characterized congenital tightly curled leading to sparse later life. In present report characterization three consanguineous families Pakistani origin, displaying clinical features ARWH/H, was performed. Haplotype DNA sequence analysis gene revealed novel homozygous nonsense variant (c.688C > T; p.Gln230*) family A. two other families, B C,...
Genetic deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) due to mutations in the GALNS gene results pathogenesis Morquio A syndrome. To date, more than 200 have been reported GALNS, resulting variable clinical features. For this reason, bioinformatics analysis these is important determine their effect on structure and functions protein establish a correlation between genotype phenotype. In present study, eight Pakistani consanguineous families with syndrome were clinically...
Mal de Meleda (MDM) is a palmoplantar keratoderma (PPK), characterized by hyperkeratosis of the palms and soles, keratotic skin lesions. Patients with MDM can develop perioral erythema, lichenoid plaques over joints (including elbows knees), nail abnormalities, joint contractures stiffness, brachydactyly, sclerodactyly, pseudoainhum, malodorous maceration. associated mutations in SLURP1 gene. We report consanguineous family which was inherited an autosomal recessive manner. Genotyping using...
Abstract Background Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It mainly characterized chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly, hepatomegaly, pallor, fatigue, iron overload, shortness of breath, hyperbilirubinemia, and gallstones might also prevail. Case presentation We present here a novel genetic defect gene that correlates with pyruvate...