Paper Review Records
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Letter on ‘Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders’
AuthorsMaajid Mohi Ud Din Malik
Affiliations1. Dr. D.Y. Patil School of Allied Health Sciences Dr. D.Y. Patil Vidyapeeth (Deemed to Be University) Pune India
Structural Variations of Alu Elements in the Kuwaiti Population: Laying the Foundations for Forensic Medicine
AuthorsSeham S. A. Abumarzouq; Alexander Woodman; Abdel Halim Deifalla
Affiliations1. Molecular Medicine Department College of Medicine and Health Sciences Arabian Gulf University Manama Bahrain; 2. Department of Family and Community Medicine College of Medicine and Medical Sciences Arabian Gulf University Manama Bahrain; 3. Department of Anatomy College of Medicine and Health Sciences Arabian Gulf University Manama Bahrain
Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets
AuthorsKatie Louise Saxby; Svetlana Stoma; Frank Dudbridge; Nilesh J. Samani; Matthew J. Bown; Christopher P. Nelson
Affiliations1. Department of Cardiovascular Sciences University of Leicester Leicester UK; 2. NIHR Leicester Biomedical Research Centre University of Leicester Leicester UK; 3. Department of Population Health Sciences University of Leicester Leicester UK
Utility of Urine‐Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant
AuthorsTakuma Harasaki; Sachiko Miyamoto; Takahiro Yonekawa; Masaharu Isogai; Mitsuhiro Kato; Mitsuko Nakashima; Hirotomo Saitsu
Affiliations1. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan; 2. Department of Pediatrics Mie University Tsu Mie Japan; 3. Department of Pediatrics Showa University School of Medicine Tokyo Japan; 4. Division of Dermatology, Department of Internal Medicine, Faculty of Medicine Saga University Saga Japan
Distribution of HLA‐DRB1 Alleles and Genotypes With Respect to Plasma Anti‐SARS‐CoV‐2 IgG Titres Among COVID‐19‐Vaccinated Bangladeshi Adults
AuthorsPiyash Bhattacharjee; Anika Tahsin; Abdullah Al Saba; Maisha Adiba; Tahirah Yasmin; Akio Ebihara; A. H. M. Nurun Nabi
Affiliations1. Laboratory of Population Genetics Department of Biochemistry and Molecular Biology University of Dhaka Dhaka Bangladesh; 2. United Graduate School of Agricultural Science Gifu University Gifu Shi Japan
FIGLA Novel Variant c.385‐9G>A Affects RNA Splicing in a Minigene Assay
AuthorsYing Zhang; Jing Hu; Lingyan Ren; Fangfang Li; Cheng Zhang; Juan Liu; Guiqin You; Yurong Feng; Shengwen Huang
Affiliations1. Department of Clinical Laboratory Medicine Zhejiang Provincial People's Hospital Bijie Hospital (The First People's Hospital of Bijie) Bijie Guizhou China; 2. Department of Clinical Laboratory Guizhou Provincial People's Hospital Guiyang Guizhou China; 3. Reproductive Medicine Center Guizhou Provincial People's Hospital Guiyang Guizhou China; 4. Department of Medical Genetics Guizhou Provincial People's Hospital Guiyang Guizhou China
Epigenetic Shifts in MTNR1A, MTNR1B and Fn14 and Their Links to Preeclampsia Risk
AuthorsSana Kashif Shahid; Syeda Sadia Fatima; Sabah Farhat; Shah Jabeen Khan; Mehir un Nisa Iqbal
Affiliations1. Department of Physiology, Fazaia Ruth Pfau Medical College Air University Karachi Sindh Pakistan; 2. Department of Biological and Biomedical Sciences Aga Khan University Karachi Sindh Pakistan; 3. Department of Physiology University of Karachi Karachi Sindh Pakistan
Hip Bone Marrow Adiposity as a Risk Factor for Alzheimer's Disease: Insights From Mendelian Randomization Analysis
AuthorsWei Shi; Zhenhua Zhu; Minghui Wu; Wenjun Cheng; Haijun Xu
Affiliations1. Hubei Key Laboratory of Sports Injury and Precision Therapy Wuhan Fourth Hospital Wuhan China; 2. Department of Stomatology Xiaogan Hospital Affiliated to Wuhan University of Science and Technology, Xiaogan Central Hospital Xiaogan China
A Novel Biallelic REL Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency‐92 With Profound c‐Rel Deficiency
AuthorsMohsine‐Ali El‐Hamri; Zineb Sabky; Nada Benyahya; Oualid Abboussi; Jaber Lyahyai; Abdelaziz Seffiani
Affiliations1. Department of Medical Genetics National Institute of Hygiene Rabat Morocco; 2. Research Team in Genomics and Molecular Epidemiology of Genetic Diseases Genopath Centre Faculty of Medicine and Pharmacy of Rabat University Mohammed V Rabat Morocco; 3. Physiology and Physiopathology Team, Genomic of Human Pathologies Research Centre Mohammed V University in Rabat Rabat Morocco
Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysis
AuthorsYongchao Yu; Yuan Zhu; Qian Tian; Lijuan Shao; Jiao Zeng; Dandan Xu; Xiangang Mo
Affiliations1. Comprehensive Ward The Affiliated Hospital of Guizhou Medical University Guiyang China; 2. Geriatrics Department The Second People's Hospital of Guiyang (Jinyang Hospital) Guiyang China; 3. Endocrinology Department The Second People's Hospital of Guiyang (Jinyang Hospital) Guiyang China; 4. Intensive Care Unit The Sixth People's Hospital of Guiyang City Guiyang Guizhou China
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