A5029086173- Skin and Cellular Biology Research
- Hair Growth and Disorders
- Wnt/β-catenin signaling in development and cancer
- dental development and anomalies
- Genomic variations and chromosomal abnormalities
- Congenital limb and hand anomalies
- Genomics and Rare Diseases
- Cancer-related gene regulation
- Oral and Maxillofacial Pathology
- Connective tissue disorders research
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Hedgehog Signaling Pathway Studies
- Plant Molecular Biology Research
- Cutaneous Melanoma Detection and Management
- Bone and Dental Protein Studies
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- AI in cancer detection
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Oropharyngeal Anatomy and Pathologies
- Medicinal plant effects and applications
- Hearing, Cochlea, Tinnitus, Genetics
- Inflammatory mediators and NSAID effects
Universität Ulm
2019-2025
University Hospital Schleswig-Holstein
2019-2025
University of Lübeck
2019-2025
University of Lahore
2012-2020
University Hospital Ulm
2019
Quaid-i-Azam University
2007-2015
Institute of Molecular Biology and Biotechnology
2012
Balochistan University of Information Technology, Engineering and Management Sciences
2011
University of Balochistan
2011
Zero to Three
2008
Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive disorder, characterized by postnatal onset of disproportionate short stature with limbs, brachydactyly, cone-shaped epiphysis, narrow thorax, and relatively large head. To date, only three homozygous missense mutations have been reported in the signaling amino terminal domain (201-308 acids) IHH gene ACFD families from Belgian, Dutch, Turkish ethnicities. In present study, we investigated two patients Pakistani family affected...
Abstract Amelogenesis Imperfecta (AI) is a set of hereditary diseases affecting enamel development, leading to various types defects, potentially impacting oral health unassociated with other generalized defects. AI manifests in syndromic and non-syndromic forms can be inherited through autosomal recessive, dominant, or X-linked inheritance patterns. Genetic studies have identified sequence variants number genes (≥ 70) linked both AI, highlighting the genetic diversity underlying condition....
<h3>Background</h3> Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It genetically heterogeneous condition, inherited both autosomal recessive and dominant manners. To date one four loci have been mapped on human chromosomes. In the present study we investigated a consanguineous Pakistani family segregating PAP to identify gene responsible for this phenotype. <h3>Methods</h3> Whole exome sequencing combined...
Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal conduction velocities, ataxia. CMT2EE (OMIM: 618400) is caused mutations in MPV17 137960), CMT4F 614895) PRX 605725), CMTX1 302800) GJB1 304040), ARSACS 270550) SACS 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, ICP-RD11,...
Abstract Background Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 ( CDMP1 ) gene cause chondrodysplasia. Methods Genotyping of six members Pakistani family chondrodysplasia, including two affected and four unaffected individuals, was carried out using polymorphic microsatellite markers, which are...
The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations nails, skin, hair, and sweat glands. However, several reports non-syndromic/isolated tooth agenesis have also been found in literature. characteristic hypohidrotic dysplasia (HED) comprise hypodontia/oligodontia, hypohidrosis/anhidrosis, hypotrichosis. Pathogenic variants EDA, EDAR, EDARADD, TRAF6, cause phenotypic expression HED. Genetic alterations EDA WNT10A particularly...
Autosomal recessive hypotrichosis is a rare hereditary disorder characterized by sparse hair on scalp and rest of the body affected subjects. Recently, three clinically similar autosomal forms [localized (LAH)1], LAH2 LAH3 have been mapped chromosomes 18q12.1, 3q27.3, 13q14.11‐q21.32, respectively. For these loci, two genes DSG4 for LAH1 LIPH identified. To date, only five mutations in reported. In this study, we ascertained large unrelated consanguineous Pakistani families with form...
Background. Autosomal recessive hypotrichosis/woolly hair is a rare genetic loss disorder characterized by sparse scalp hair/woolly hair, to absent eyebrows and eyelashes, axillary body in affected individuals. This form of results from mutations either LPAR6 or LIPH gene. Aim. To identify genes 17 consanguineous Pakistani families showing features hair. Methods. Genotyping was carried out using polymorphic microsatellite markers linked causing autosomal phenotype. screen for genes, all...
Journal Article Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis 13 Pakistani families Get access M. Tariq, Tariq Department of Biochemistry, Faculty Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan Search for other works by this author on: Oxford Academic Google Scholar Ayub, Ayub Institute University Baluchistan, Quetta, Jelani, Jelani S. Basit, Basit G. Naz, Naz N. Wasif, Wasif S.I. Raza, Raza Biochemistry and Molecular Biology, National Sciences...
Abstract Background Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) as part syndrome. The disease broadly divided into preaxial polydactyly (PPD; duplication thumb), mesoaxial (complex polydactyly), and postaxial (PAP: fifth finger). digits be present one both limbs. Heterozygous variants GLI3 , ZRS / SHH PITX1 have been associated with autosomal dominant polydactyly, while homozygous...
Abstract Background Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by and Smith. Pathogenic mutations the Cyclin CBS Domain Divalent Metal Cation Transport Mediator 4 (CNNM4) magnesium transporter protein have been reported as leading cause this anomaly. Methods In present study, genetic investigation performed consanguineous family Pakistani origin, showing...
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients eventually reduces their IQ level below 70.The current genetic study ascertained two consanguineous Pakistani families suffering from autosomal recessive intellectual developmental disorder-5 (MRT5). We have used exome sequencing followed by Sanger to identify disease-causing variants.Genetic analysis using whole in these identified novel mutations...
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by the absence or hypoplasia of hair, teeth, and eccrine sweat glands. The inheritance pattern HED may be X-linked autosomal (dominant recessive). Mutations in EDA 1 gene cause mutations either EDAR EDARADD genes forms HED. To search for mutation human EDA1 large Pakistani family demonstrating form (XLHED), eight exons splice junction sites were amplified PCR from genomic DNA sequenced directly an ABI Prism 310...
Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails, both. In the present study, we have described a consanguineous Pakistani family having member affected with congenital anonychia. Genotyping using polymorphic microsatellite markers showed linkage to gene RSPO4 encoding R-spondin and mapped on human chromosome 20p13. Deoxyribonucleic acid sequence analysis identified novel nonsense mutation (c.18C>A; p.Cys6X) in member.
Congenital atrichia with papular lesions (APL; Mendelian Inheritance in Man no. 209500) is a rare form of irreversible alopecia that follows an autosomal recessive mode inheritance. Patients this show hair loss soon after birth the development keratin-filled cysts over body. Several studies have reported sequence variants human hairless (HR) gene as underlying cause disorder. In present study, we four consanguineous families showing features APL. Genotyping using microsatellite markers...
Abstract Background Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms its thickness, structure, and composition. It appears both syndromic as well non-syndromic forms. In affected individuals, usually thin, soft, rough, brittle, pitted, chipped, abraded, having reduced functional ability aesthetics. leads to severe complications patient, like early loss, discomfort,...
Abstract Background: Ellis‐van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by skeletal, ectodermal and cardiac defects. This caused mutations in EVC EVC2 genes, which are separated 2.6 kb of genomic sequence on chromosome 4p16. Methods: In the present study we ascertained four‐generation pedigree Pakistani origin with features EVC. Linkage was searched genotyping microsatellite markers linked to Affected individuals showed homozygosity tightly genes It then...
Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause DMC. Smith-McCort (SMC), another dysplasia, also caused by non-synonymous variants. Methods Results: In current study, we examined Pakistani consanguineous family three affected members. Clinical features like spondyloepimetaphyseal indicative characteristic abnormalities, intellectual...
Abstract Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger identified novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating an autosomal dominant manner. Our findings conclude that expressivity are two remarkable unusual features