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- 저자 : Huma Tariq (검색결과 2 건)
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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
Huma Tariq,Rashid Imran,Sadaf Naz 대한신경과학회 2018 Journal of Clinical Neurology Vol.14 No.4
Background and Purpose Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. Methods Detailed clinical investigations were carried out on probands in two consanguineous families. Magnetic resonance imaging was performed. Exome sequencing data were examined for likely pathogenic variants. Candidate variants were checked for cosegregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP, and the 1,000 Genome Project as well as ethnically matched controls were checked to determine the frequencies of the alleles. Conservation of missense variants was ensured by aligning orthologous protein sequences from diverse vertebrate species. Results Reverse phenotyping identified spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families. A novel homozygous missense mutation c.202 C>T (p. Arg68Cys) was identified within senataxin, SETX in the DNA of both patients in one of the families with AOA2. The patients in the second family were homozygous for a known variant in ataxia-telangiectasia mutated (ATM) gene: c.7327 C>T (p.Arg2443Ter). Both variants were absent from 100 ethnically matched control chromosomes and were either absent or present at very low frequencies in the public databases. Conclusions This report extends the allelic heterogeneity of SETX mutations causing AOA2 and also presents an asymptomatic patient with a pathogenic ATM variant.
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Huma Tariq,Abdul Rehman,Farzana Kishwar,Zulfiqar Ali Raza 한국섬유공학회 2022 Fibers and polymers Vol.23 No.11
Herein, clove oil encapsulated-chitosan morphologies have been prepared using the emulsion evaporation method. The prepared microstructures were analyzed for z-average and zeta potential using dynamic light scattering analysis and thenapplied on cellulosic fabric for antibacterial and textile properties using citric acid as a green cross-linker in the presence ofsodium hypophosphite as a catalyst. The treated fabric was characterized for surface morphology, chemical functionalities,crystal properties, conventional textile properties including whiteness index, air permeability, crease recovery, stiffness,tensile strength, antibacterial activity, and finish loading/release profiles. The z-averages of the native chitosan microcapsuleswere recorded as 250±10 nm, and that of 1 and 2 % (v/v) clove oil containing chitosan microcapsules were observed as300±10 and 380±15 nm, respectively. The chitosan-based microcapsules-treated cellulosic fabrics exhibited good broadspectrumantibacterial activity with overall retained tensile properties and a sustained release of essential oil in the phosphatebufferedsaline. The results were found validated based on statistical analysis.
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