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Articles 31 - 34 of 34

Full-Text Articles in Medical Genetics

Resting Heart Rate And Risk Of Dementia: A Mendelian Randomization Study In The International Genomics Of Alzheimer’S Project And Uk Biobank, Xingxing Chen, Yi Zheng, Jun Wang, Blake Yue, Xian Zhang, Kenta Nakai, Lijing L. Yan Jan 2024

Resting Heart Rate And Risk Of Dementia: A Mendelian Randomization Study In The International Genomics Of Alzheimer’S Project And Uk Biobank, Xingxing Chen, Yi Zheng, Jun Wang, Blake Yue, Xian Zhang, Kenta Nakai, Lijing L. Yan

Research outputs 2022 to 2026

Background: Observational studies have demonstrated that a higher resting heart rate (RHR) is associated with an increased risk of dementia. However, it is not clear whether the association is causal. This study aimed to determine the causal effects of higher genetically predicted RHR on the risk of dementia. Methods: We performed a two-sample Mendelian randomization analysis to investigate the causal effect of higher genetically predicted RHR on Alzheimer’s disease (AD) using summary statistics from genome-wide association studies. The generalized summary Mendelian randomization (GSMR) analysis was used to analyze the corresponding effects of RHR on following different outcomes: 1) diagnosis of …


Advancement In Human Face Prediction Using Dna, Aamer Alshehhi, Aliya Almarzooqi, Khadija Alhammadi, Naoufel Werghi, Guan Kwang Tay, Habiba Alsafar Jan 2023

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 Jan 2023

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 Aug 2022

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.