A5101699788- Skin and Cellular Biology Research
- Hair Growth and Disorders
- Wnt/β-catenin signaling in development and cancer
- Hearing, Cochlea, Tinnitus, Genetics
- Congenital limb and hand anomalies
- Hedgehog Signaling Pathway Studies
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Connective tissue disorders research
- dental development and anomalies
- Cancer-related gene regulation
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- Microtubule and mitosis dynamics
- Genetic and Kidney Cyst Diseases
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Connexins and lens biology
- Chromosomal and Genetic Variations
- Biochemical Analysis and Sensing Techniques
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Genomics and Rare Diseases
Quaid-i-Azam University
2015-2024
Nanjing University of Aeronautics and Astronautics
2024
National Chengchi University
2022-2024
Institute of Information Science, Academia Sinica
2022-2024
University of Engineering and Technology Taxila
2022
Regional Research Institute of Unani Medicine
2022
Academia Sinica
2022
Friedrich Schiller University Jena
2017-2021
Medical University of Vienna
2021
Abdul Wali Khan University Mardan
2017-2019
There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases which entirely unknown. A kindred with a rare, recessively inherited type alopecia universalis was used to search for locus by homozygosity mapping, and linkage established in 6-centimorgan interval on chromosome 8p12 (the logarithm odds favoring score 6.19). The homolog murine gene, hairless , localized this radiation hybrid missense mutation found affected individuals. Human encodes...
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers toes, with various associated morphologic phenotypes part of a syndrome (syndromic polydactyly) may occur separate event (non-syndromic polydactyly). Broadly, non-syndromic polydactyly has been classified into three types, i.e.; preaxial (radial), central (axial), and postaxial (ulnar). Mostly inherited an autosomal dominant entity variable penetrance caused...
Here, the aim is to improve bioavailability of Naringenin (NRG) in brain and establish highest remedial benefit from a novel anti-ischemic medicine i.e. NRG.A Naringenin-loaded-nanoemulsion (NE)-(in situ)-gel (i.e. thermoresponsive), was formulated with help Poloxamer-407 (20.0% w/v). Chitosan (CS, 0.50% w/v) used introduce mucoadhesive property NE-(in finally called as NRG-NE-gel + 0.50%CS. A UHPLC-ESI-Q-TOF-MS/MS-method optimized for 0.50%CS quantify Pharmacokinetic-(PK)-parameters plasma...
Deafness in humans is a common neurosensory disorder and genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be third or fourth most cause autosomal-recessive, nonsyndromic deafness. In 49 67 exons MYO15A, there are currently 192 recessive identified, including 14 novel reported here. These distributed uniformly across with one enigmatic exception; alternatively spliced giant exon 2, encoding 1,233 residues, has 17 truncating but no...
Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C PDE6H have been implicated ACHM. We performed homozygosity mapping linkage analysis a consanguineous Pakistani ACHM family mapped the locus to 15.12-Mb region on chromosome 1q23.1-q24.3 with maximum LOD score of 3.6. A DNA sample from affected member underwent exome sequencing. Within...
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping, Sanger and exome sequencing identify 163 DNA variants in 41 previously reported HL 321 families. Of these, 70 (42.9%) identified 29 are novel. As expected from genetic studies disorders consanguineous families, majority affected individuals (94.4%)...
Asthenozoospermia accounts for over 80% of primary male infertility cases. Reduced sperm motility in asthenozoospermic patients are often accompanied by teratozoospermia, or defective morphology, with varying severity. Multiple morphological abnormalities the flagella (MMAF) is one most severe forms asthenoteratozoospermia, characterized heterogeneous flagellar abnormalities. Among various genetic factors known to cause MMAF, multiple variants
Cyclic AMP (cAMP) production, which is important for mechanotransduction within the inner ear, catalyzed by adenylate cyclases (AC). However, knowledge of role ACs in hearing limited. Previously, a novel autosomal recessive non-syndromic impairment locus DFNB44 was mapped to chromosome 7p14.1-q11.22 consanguineous family from Pakistan. Through whole-exome sequencing DNA samples hearing-impaired members, nonsense mutation c.3112C>T (p.Arg1038*) cyclase 1 (ADCY1) identified. This stop-gained...
GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action Hedgehog (Hh) morphogens. Accordingly, inactivating variants in are found several developmental disorders. In contrast, loss-of-function mutations GLI1 have remained elusive, maintaining enigmatic role this gene human embryo. We describe eight patients from three independent families having biallelic truncating defects overlapping with Ellis-van Creveld syndrome (EvC), disease caused...