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- 저자 : Yasir Baig (검색결과 2 건)
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Iqra Ghulam Rasool,Muhammad Yasir Zahoor,Muhammad Iqbal,Aftab Ahmad Anjum,Fatima Ashraf,Hafiz Qamar Abbas,Hafiz Muhammad Azhar Baig,Tariq Mahmood,Wasim Shehzad 한국유전학회 2021 Genes & Genomics Vol.43 No.5
Background Intellectual disability (ID) is a heterogeneous disorder afecting 1–3% of the population. Elucidation of monogenic variants for ID is a current challenge. These variants can be better demonstrated in consanguineous afected families. Objective The study was designed to fnd the genetic variants of ID in consanguineous families. Methods We analyzed fve unrelated consanguineous Pakistani families afected with ID using whole exome sequencing (WES). Data was analyzed using diferent bioinformatics tools and software. Results We mapped four variants including three novels in four diferent ID known genes. Each variant is found in a different family, co-segregating with a recessive pattern of inheritance. The novel variants found are; c. 2_4del (p.?) mapped in ROS1 and c. 718G>A (p.Gly240Arg) in GRM1. Another novel causative variant, c.2673del (p.Gly892Aspfs*17) identifed in COL18A1 in a recessive form, a gene reported for Knobloch syndrome that manifests ID along with typical retinal abnormalities, and this phenotype was confrmed on reverse phenotyping. A mutation c.2134C>T (p.Arg712*) in TRAPPC9 has been found frst time in the homozygous recessive form in our enrolled three afected siblings while it was previously reported in compound heterozygous form in a Caucasian descent. While ffth family remained unsolved. Conclusion These mutations in four diferent genes with a recessive inheritance would be a contribution to the disease variant database of this devastating disorder.
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Zamurrad Arshad,Muhammad Ali Nasir,Yasir Baig,Muhammad Zeeshan,Rizwan Ahmed Malik,Khubab Shaker,Azhar Hussain,M. Latif,Maryam Sattar,Hussein Alrobei 한국고분자학회 2020 폴리머 Vol.44 No.5
This work focuses on the synthesis of a novel hybrid composite, fabricated by utilizing jute and carbon fibers reinforced epoxy composites through hand layup technique to replace pure carbon-epoxy fiber composites. The mechanical properties were evaluated by drop weight impact and tension-tension fatigue tests. The tension-tension fatigue test was conducted to monitor the dynamic stiffness and fatigue life degradation of hybrid composite materials by varying the layers of jute fiber. The maximum peak load during the impact test was observed as 1081.7 N in case of carbon/jute/ carbon/jute/carbon (CJCJC) stacking sequence composite materials. Finally, the surface morphology of hybrid composite materials was studied with scanning electron microscopy (SEM) after mechanical tests to check the delamination, fiber pull-out and matrix cracks. It can be concluded from the obtained mechanical results that the newly developed composite with 15% jute/carbon-epoxy hybrid materials has the potential to swap carbon-epoxy composite without much loss of fatigue life along with relatively enhanced ductility as well as impact strength.
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