Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma

Muhammad Ismail Khan,최소연,Muhammad Zahid,Habib Ahmad,Roshan Ali,Musharraf Jelani,강창수 한국유전학회 2018 Genes & Genomics Vol.40 No.7

Palmoplantar keratoderma (PPK) is a rare group of excessive skin disorder characterized by thickness over the palms and soles. The striate palmoplantar keratoderma (PPKS) is a form in which hyperkeratotic lesions are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. Dominantly inherited mutations in genes including desmoglein 1, desmoplakin and keratin 1 have been suggested as genetic causes of PPKS. In this study, we investigated a three-generation Pakistani family segregating PPKS phenotype in autosomal dominant fashion to identify genetic cause in this family. We have performed whole-exome and Sanger sequencing followed by in silico bioinformatics analysis to pinpoint candidate mutation associated with PPK. Revealed a novel heterozygous mutation (NM_020882.2, COL20A1 c. 392C > G; p.Ser131Cys) in the loop region close to fibronectin type III-1 domain of the c ollagen 20 α1. This variant was not found in our in-house 219 ethnically matched Pakistani unaffected controls and showed minor allele frequency of 3.4 × 10−5 in Exome Aggregation Consortium database containing exome data of 59,464 worldwide individuals. It was assigned as “pathogenic” by in silico prediction tools. Previously, association of mutation in the COL14A1, one of the paralogous gene of COL20A1, with PPK was reported in the study with a Chinese family. Our study proposes COL20A1 gene as another potential candidate gene for PPKS which expand the spectrum of collagen proteins in the pathogenicity of PPK.

Enhancing Software Reusability through Value Based Software Repository

Muhammad Zahid Khan,M. N. A. Khan 보안공학연구지원센터 2014 International Journal of Software Engineering and Vol.8 No.11

Profitability is prime goal of every software organization. In the recent years, software development paradigm has vastly changed due to rapidly changing business requirements. Now customers demand for their desired products to be delivered in a minimal timeframe. To cater for these demands, different rapid development techniques termed as agile development and reusability phenomena are introduced in the software industry. With the help of reusable components, developing and deploying software products can be much easier and economical. Such approaches can help save cost and working hours so that the developing company can utilize its scare resources on other projects. But achieving accurate and precise reusability is not a piece of cake because along with economical and time saving benefits it comes with some shortcomings, such as it can increase the system complexity, can harm the architecture, degrade quality of the system etc. A proper storage facility of reusable components is required where an organization can save its important data and retrieve it when required. A wide range of standard repositories are used in various organizations for this purpose where important data is stored and retrieved. But in reality, every repository contains huge volumes of data and mostly no proper business standards of storing mechanism are applied. Though there are some repository maintaining software available in the market, but they only provide mechanism for storing artifacts. Maintaining the huge data volumes necessitates providing ample search assistance and putting in place precise reusable components suggestion procedure; therefore, researchers have to sift through loads of volumes of data within the repository for locating the intended component. In this paper, we discuss a novel concept of Central Value Based Software Repository (CBVSR). The proposed approach can assist users in finding the more appropriate artifact as it provides the best possible match against the user query. Proper standards have been followed in storing, deleting, amending and discarding data from the CBVSR. Data quality, security and integrity have been taken care of and indexing, tagging and classification are performed to provide technical assistance to developers.

Survivability Analysis of MANET Routing Protocols under DOS Attacks

( Sohail Abbas ),( Muhammad Haqdad ),( Muhammad Zahid Khan ),( Haseeb Ur Rehman ),( Ajab Khan ),( Atta Ur Rehman Khan ) 한국인터넷정보학회 2020 KSII Transactions on Internet and Information Syst Vol.14 No.9

The network capability to accomplish its functions in a timely fashion under failures and attacks is known as survivability. Ad hoc routing protocols have been studied and extended to various domains, such as Intelligent Transport Systems (ITSs), Unmanned Aerial Vehicles (UAVs), underwater acoustic networks, and Internet of Things (IoT) focusing on different aspects, such as security, QoS, energy. The existing solutions proposed in this domain incur substantial overhead and eventually become burden on the network, especially when there are fewer attacks or no attack at all. There is a need that the effectiveness of these routing protocols be analyzed in the presence of Denial of Service (DoS) attacks without any intrusion detection or prevention system. This will enable us to establish and identify the inherently stable routing protocols that are capable to survive longer in the presence of these attacks. This work presents a DoS attack case study to perform theoretical analysis of survivability on node and network level in the presence of DoS attacks. We evaluate the performance of reactive and proactive routing protocols and analyse their survivability. For experimentation, we use NS-2 simulator without detection or prevention capabilities. Results show that proactive protocols perform better in terms of throughput, overhead and packet drop.

Multi-aging Effects on Vegetable Based Oils for Transformer Insulation in HV Systems

Khan Irfanullah,Abid Muhammad Ahtasham,Ullah Kaleem,Ullah Zahid,Haider Aun,Ahmad Farhan Ammar,Zia Zain,Ali Sahibzada Muhammad 대한전기학회 2021 Journal of Electrical Engineering & Technology Vol.16 No.5

Liquid insulation media is used for insulation and cooling purpose inside the transformer. Currently, transformers are using petroleum based mineral oil, which poses a serious hazardous environmental impact, since the mineral oil is non-renewable and non-biodegradable. Although, the increased cost and depleting nature of mineral oil cause an emergent need to use suitable alternatives to mineral oils that are biodegradable and environmentally friendly. In response to this resource issue, various vegetable oils, namely Sunfl ower oil, Soya bean oil, and a blend of Sunfl ower and Olive (BSO) oil are suitable alternatives for transformer insulation in high voltage systems. The afore-mentioned vegetable oils are subjected to multi-aging and comparative analysis is performed with mineral oil. Further, the dielectric and thermal properties of vegetable oils are tested before and after aging. Fourier Transform Infrared spectroscopy, water content, breakdown voltage, viscosity, fl ash point, tan delta, and pour point tests are performed on vegetable oils before and after aging. Finally, a comparative analysis of vegetable oils with mineral oil is provided to prove the effi cacy of the proposed vegetable oils. The BSO oil resulted in higher breakdown strength and good thermal behavior when subjected to the abovementioned various diagnostic measurement tests in comparison to other oils

Developing an Intrusion Detection Framework for High-Speed Big Data Networks: A Comprehensive Approach

( Kamran Siddique ),( Zahid Akhtar ),( Muhammad Ashfaq Khan ),( Yong-hwan Jung ),( Yangwoo Kim ) 한국인터넷정보학회 2018 KSII Transactions on Internet and Information Syst Vol.12 No.8

In network intrusion detection research, two characteristics are generally considered vital to building efficient intrusion detection systems (IDSs): an optimal feature selection technique and robust classification schemes. However, the emergence of sophisticated network attacks and the advent of big data concepts in intrusion detection domains require two more significant aspects to be addressed: employing an appropriate big data computing framework and utilizing a contemporary dataset to deal with ongoing advancements. As such, we present a comprehensive approach to building an efficient IDS with the aim of strengthening academic anomaly detection research in real-world operational environments. The proposed system has the following four characteristics: (i) it performs optimal feature selection using information gain and branch-and-bound algorithms; (ii) it employs machine learning techniques for classification, namely, Logistic Regression, Naïve Bayes, and Random Forest; (iii) it introduces bulk synchronous parallel processing to handle the computational requirements of large-scale networks; and (iv) it utilizes a real-time contemporary dataset generated by the Information Security Centre of Excellence at the University of Brunswick (ISCX-UNB) to validate its efficacy. Experimental analysis shows the effectiveness of the proposed framework, which is able to achieve high accuracy, low computational cost, and reduced false alarms.

Biodiesel production from waste cooking oil employing natural bentonite supported heterogeneous catalyst: Waste to biodiesel

Abdul Naeem,Shah Zaman,Muhammad Farooq,Ihtisham Wali Khan,Zahid Ali Ghazi,Tooba Saeed,Muhammad Hamayun 한국화학공학회 2022 Korean Journal of Chemical Engineering Vol.39 No.6

This work describes the practicability of utilizing bentonite clay as a cheap and raw support for heterogeneouscatalyst development. In the current research, ammonium persulfate (APS) impregnated bentonite heterogeneouscatalyst was designed for the conversion of waste cooking oil to biodiesel. The fabricated catalyst was analyzed byvarious instrumental techniques (FTIR, TGA, BET, SEM, XRD, and EDX) to study its various physiochemical properties. It was identified that the clay supported heterogeneous catalyst executed an excellent activity for waste cooking oilconversion as providing maximum biodiesel yield of 93% at optimal reaction conditions (reaction temperature 75 oC,oil/methanol molar ratio, 1 : 10; catalyst amount, 2.5 wt%; stirring rate, 600-rpm in 3.5 hr reaction time). Gas chromatographymass spectroscopy (GCMS) analysis confirms the successful conversion to biodiesel. Similarly, the variousphysiochemical characteristics of the synthesized biodiesel meet the international standard of American (ASTM6751)and European Union (EU-14214). Moreover, the designed acid catalyst showed catalytic activity for up to eight consecutiveruns demonstrate its good reusability.

Is nuclear energy a better alternative for mitigating CO₂ emissions in BRICS countries? An empirical analysis

Hassan, Syed Tauseef,Danish, Danish,khan, Salah-Ud-Din,Baloch, Muhammad Awais,Tarar, Zahid Hassan Korean Nuclear Society 2020 Nuclear Engineering and Technology Vol.52 No.12

Looking at the recent studies, nuclear energy and carbon dioxide (CO₂) emissions nexus shows inconclusive result. To further explain nuclear energy-pollution nexuses this study is an attempt to analyze the impact of nuclear energy on pollution reduction for BRICS countries covering data for the period from 1993 to 2017. This study conducts advanced panel techniques such as Continuously-Updated Fully-Modified (CUP-FM) and Continuously-Updated Bias-Corrected (CUP-BC) for long run estimation. Our results support the notion that nuclear energy reduce CO₂ emissions. Also, renewable energy corrects environmental pollution in BRICS countries. The magnitude of the coefficient of nuclear energy is less as compared to renewable energy, implying that nuclear is less effective in reducing environmental pollution. The findings offer significant policy understandings and suggestions not only for BRICS economies but for developing countries as well in designing suitable nuclear energy-growth-carbon policies.

Molecular Characterization of FLT3 Mutations in Acute Leukemia Patients

Ishfaq, Mariam,Malik, Arif,Faiz, Mariam,Sheikh, Ishfaq Ahmad,Asif, Muhammad,Khan, Muhammad Nasrullah,Qureshi, Muhammad Saeed,Zahid, Sara,Manan, Abdul,Arooj, Mahwish,Qazi, Mahmood Husain,Chaudhary, Ade Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.9

Fms-like tyrosine kinase 3 (FLT3) performs a vital role in the pathogenesis of hematopoietic malignancies. Therefore in recent times, the focus of several studies was on use of FLT3 as a prognostic marker. The present study investigated the molecular characterization and incidence of FLT3 mutations in acute leukemia patients in Pakistan. A total of 55 patients were studied, of which 25 were suffering from acute lymphoblastic leukemia (ALL) and 30 were suffering from acute myeloid leukemia (AML). The polymerase chain reaction demonstrated FLT3/ITD mutations in 1 (4%) of 25 ALL patients, a male with the L2 subtype. In AML cases the rate was 4 (13.3%) of 30, three males and one female. The AML-M4 subtype was found in three and the AML M2 subtype in the other. In the AML cases, a statistically significant (p=0.009) relationship was found between WBC (109/L) and FLT3/ITD positivity. However, no significant relationship was found with other clinical parameters (p>0.05). In acute myeloid leukemia (AML) $FLT3/ITD^+$ mutation was more prevalent in elderly patients 31-40 age groups, 21-30 and 51-60 age groups respectively. In acute lymphoblastic leukemia (ALL) statistically no significant relationship was found between clinical features and FLT3/ITD positivity (p>0.05). However, in acute lymphoblastic leukemia (ALL) $FLT3/ITD^+$ mutation was more commonly found in age groups of 21-30.

Interactive Effect of Cobalt and Nitrogen on Growth, Nodulation, Yield and Protein Content of Field Grown Pea

Fahmida Mir Akbar,Mohsin Zafar,Abdul Hamid,Maqsood Ahmed,Abdul Khaliq,Muhammad Riaz Khan,Zahid ur Rehman 한국원예학회 2013 Horticulture, Environment, and Biotechnology Vol.54 No.6

Pea (Pisum sativum L.) has increasing nutritional, commercial, and economical value, and initial low supply of N and Co is needed to increase nodulation, yield, and profit. A field experiment in 2010 was conducted at the University of Poonch Rawalakot located in the hilly region of the state of Azad Jammu and Kashmir, Pakistan. The aim of the study was to evaluate the effects of fertilization of N and Co on growth, nodulation, seed yield, seed composition of, and uptake of N and Co by pea plant. Treatments included three levels of N (0, 30, and 60 kg N·ha-1 and represented as N0, N30, and N60, respectively) combined with three levels of Co (0, 10, and 20 g Co·ha-1and represented as Co0, Co10, and Co20, respectively), and the control represented as N0Co0. Results indicated that most of the morphological characteristics were increased with N60. The greatest shoot length, root length, and chlorophyll content were recorded in the N60Co20. The number of root nodules increased from 6 in the control to 19with fertilization of N and Co. Yield responses to N–Co fertilization occurred to all rates, and the highest yield,2536 kg·ha-1, was observed in the treatment N60Co10. Total N and Co uptake in the plant (shoot + root + seed)ranged between 16-147% and 3-331% over the control, while seed protein increased by 13–198% over the control by application of N and Co. This study demonstrates that N- and Co-deficient soils are likely to produce crops with low yields and seeds with low protein levels, and therefore, appropriate management of soil N and Co could be an effective approach to increase and sustain pea production in the small holding mountain ecosystems.