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您的检索式：作者名="Munir Azam Muhammad"
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| 1 | Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients显示文摘AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity. | Yar Muhammad Waryah Muhammad Iqbal Shakeel Ahmed Sheikh Muhammad Azhar Baig Ashok Kumar Narsani Muhammad Atif Munir Ahmad Bhinder Attiq Ur Rahman Azam Iqbal Memon Muhammad Suleman Pirzado Ali Muhammad Waryah | 2019 | International Journal of Ophthalmology(English edition)2019，12，1： | 0 |
| 2 | Optimized Gated Recurrent Unit for Mid-Term Electricity Price Forecasting显示文摘Electricity price forecasting(EPF)is important for energy system operations and management which include strategic bidding,generation scheduling,optimum storage reserves scheduling and systems analysis.Moreover,accurate EPF is crucial for the purpose of bidding strategies and minimizing the risk for market participants in the competitive electricity market.Nevertheless,accurate time-series prediction of electricity price is very challenging due to complex nonlinearity in the trend of electricity price.This work proposes a mid-term forecasting model based on the demand and price data,renewable and non-renewable energy supplies,the seasonality and peak and off-peak hours of working and nonworking days.An optimized Gated Recurrent Unit(GRU)which incorporates Bagged Regression Tree(BTE)is developed in the Recurrent Neural Network(RNN)architecture for the mid-term EPF.Tanh layer is employed to optimize the hyperparameters of the heterogeneous GRU with the aim to improve the model’s performance,error reduction and predict the spikes.In this work,the proposed framework is assessed using electricity market data of five major economical states in Australia by using electricity market data from August 2020 to May 2021.The results showed significant improvement when adopting the proposed prediction framework compared to previous works in forecasting the electricity price. | Rashed Iqbal Hazlie Mokhlis Anis Salwa Mohd Khairuddin Syafiqah Ismail Munir Azam Muhammad | 2022 | Computer Systems Science & Engineering2022，43，11： | 0 |
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