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- 저자 : Rasool Imran (검색결과 3 건)
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Muhammad Imran Naseer,Mahmood Rasool,Osama Yousef Muthaffar,Abdulrahman J. Sabbagh,Adeel G. Chaudhary,Mohammad H. Al‑Qahtani 한국유전학회 2017 Genes & Genomics Vol.39 No.12
Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and so far more than 17 genes associated with this disease have been identified. Primary microcephaly type 1 (MCPH1) gene encodes a protein called microcephalin, which is implicated in chromosome condensation and DNA damage induced cellular responses. It is suggested to play a role in neurogenesis and regulation of the size of the cerebral cortex. Whole exome sequencing revealed a novel, homozygous frameshift mutation (c.373_374delAA) in MCPH1 gene in exon 5 resulting in frameshift change from p.Lys125Glusfs*7. Our report presents the results of the simultaneous analysis of the trio exome data of both unaffected parents and their affected son. A homozygous frameshift variant in the MCPH1 gene was identified as a plausible candidate causal variant for the clinical phenotype in this family.
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Nasir Ali,Rasool Imran,Sibtain Daud,Kamran Raheel 대한전기학회 2021 Journal of Electrical Engineering & Technology Vol.16 No.5
This paper is presenting an Adaptive Fractional Order PID (AFOPID) controller for PV connected grid system. The proposed controller is designed to harvest maximum power from the PV source. AFOPID controller contain the property of conventional PID controller, where the controller contains an adaptive property to optimize gain parameter on the basis of generator and grid side parameter in view. In the suggested work, the AFOPID controller imparted with the characteristic to get tune with particle swarm optimization to track maximum power point tracking, dc link voltage, and current control and quadrature axis modeling. Furthermore, the current control functionalities are performed through an AFOPID, where the controlling parameters are updated by measured error at every instant. The aim of this research is to attain maximum power from the PV source under varying weather conditions with minimum total harmonic distortion, which validate the performance of the proposed controller. The proposed work is compared with, FOPID, FLC, PI, GA and ACO tune FOPID controllers.
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A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family
Neelam Sultan,Irfan Ali,Shazia Anwer Bukhari,Shahid Mahmood Baig,Muhammad Asif,Muhammad Qasim,Muhammad Imran Naseer,Mahmood Rasool 한국유전학회 2018 Genes & Genomics Vol.40 No.5
Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular dissection of the disease more difficult. The present study was designed to characterize the underlying pathogenic variants of RP in Pakistan. For this purpose, a large consanguineous family with RP phenotype showing autosomal recessive mode of inheritance was selected after a complete ophthalmological examination. Next generation sequencing was used for the identification of molecular determinant followed by Sanger-sequencing for confirmation. After sequence analysis a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The identified mutant allele segregated in homozygous fashion in all the affected individuals of pedigree. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with RP phenotype. The findings of this study demonstrate the clinical significance of next generation sequencing to understand the molecular basis of diseases and would help to reveal new proteins and their function in visual cycle will pave the way for early diagnosis, genetic counseling and better therapeutic inventions.
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