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- Asthma (1)
- COPD (1)
- Copy number variations (1)
- Disease etiology (1)
- Dysregulated biochemical processes (1)
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- Epilepsy (1)
- Face landmarks (1)
- Forensic DNA phenotyping (FDP) (1)
- Genome wide association studies (GWAS) (1)
- Human leukocyte antigen (HLA) (1)
- Major histocompatibility complex (MHC) (1)
- Microdeletion (1)
- Next generation sequencing (NGS) (1)
- Obstructive lung diseases (1)
- Sex-specific (1)
- Single nucleotide polymorphism (SNP) (1)
- Therapeutic targets (1)
- United Arab Emirates (UAE) (1)
- X-linked ichthyosis (1)
- Xp22.31 (1)
Articles 1 - 4 of 4
Full-Text Articles in Medical Sciences
Investigating The Genetic Makeup Of The Major Histocompatibility Complex (Mhc) In The United Arab Emirates Population Through Next-Generation Sequencing, Nour A. D. Marzouka, Halima Alnaqbi, Amira Al-Aamri, Guan Tay, Habiba Alsafar
Investigating The Genetic Makeup Of The Major Histocompatibility Complex (Mhc) In The United Arab Emirates Population Through Next-Generation Sequencing, Nour A. D. Marzouka, Halima Alnaqbi, Amira Al-Aamri, Guan Tay, Habiba Alsafar
Research outputs 2022 to 2026
The Human leukocyte antigen (HLA) molecules are central to immune response and have associations with the phenotypes of various diseases and induced drug toxicity. Further, the role of HLA molecules in presenting antigens significantly affects the transplantation outcome. The objective of this study was to examine the extent of the diversity of HLA alleles in the population of the United Arab Emirates (UAE) using Next-Generation Sequencing methodologies and encompassing a larger cohort of individuals. A cohort of 570 unrelated healthy citizens of the UAE volunteered to provide samples for Whole Genome Sequencing and Whole Exome Sequencing. The definition of the …
Advancement In Human Face Prediction Using Dna, Aamer Alshehhi, Aliya Almarzooqi, Khadija Alhammadi, Naoufel Werghi, Guan Kwang Tay, Habiba Alsafar
Advancement In Human Face Prediction Using Dna, Aamer Alshehhi, Aliya Almarzooqi, Khadija Alhammadi, Naoufel Werghi, Guan Kwang Tay, Habiba Alsafar
Research outputs 2022 to 2026
The rapid improvements in identifying the genetic factors contributing to facial morphology have enabled the early identification of craniofacial syndromes. Similarly, this technology can be vital in forensic cases involving human identification from biological traces or human remains, especially when reference samples are not available in the deoxyribose nucleic acid (DNA) database. This review summarizes the currently used methods for predicting human phenotypes such as age, ancestry, pigmentation, and facial features based on genetic variations. To identify the facial features affected by DNA, various two-dimensional (2D)- and three-dimensional (3D)-scanning techniques and analysis tools are reviewed. A comparison between the scanning …
Case Report: Sex-Specific Characteristics Of Epilepsy Phenotypes Associated With Xp22.31 Deletion: A Case Report And Review, Yi Wu, Dan Wu, Yulong Lan, Shaocong Lan, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Case Report: Sex-Specific Characteristics Of Epilepsy Phenotypes Associated With Xp22.31 Deletion: A Case Report And Review, Yi Wu, Dan Wu, Yulong Lan, Shaocong Lan, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Research outputs 2022 to 2026
Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in epilepsy characteristics associated with deletions in the Xp22.31 region. In this study, we reported two siblings with a 1.69 Mb maternally inherited microdeletion at Xp22.31 involving the genes VCX3A, HDHD1, STS, VCX, VCX2, and PNPLA4 presenting with easily controlled focal epilepsy and language delay with mild ichthyosis in a Chinese family with a traceable 4-generation history of skin ichthyosis. Both brain magnetic resonance …
Metabolomics In Pulmonary Medicine: Extracting The Most From Your Data, Stacey N. Reinke, Romanas Chaleckis, Craig E. Wheelock
Metabolomics In Pulmonary Medicine: Extracting The Most From Your Data, Stacey N. Reinke, Romanas Chaleckis, Craig E. Wheelock
Research outputs 2022 to 2026
The metabolome enables unprecedented insight into biochemistry, providing an integrated signature of the genome, transcriptome, proteome and exposome. Measurement requires rigorous protocols combined with specialised data analysis to achieve its promise.