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[Advances in the genetics of venous thromboembolic disease].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Institute of Hematology, Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and Technology, Wuhan 430022, China.
Venous thromboembolism (VTE) is clinically manifested as deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE is the third most prevalent vascular disease after coronary artery and cerebrovascular diseases. VTE is a multifactorial disease caused by the interaction of genetic and acquired risk factors.
View Article and Find Full Text PDFPediatric Pulmonary Arterial Hypertension; is it Possible to Predict its Outcome?
J Saudi Heart Assoc
December 2024
Department of Pediatrics, Pediatric Cardiology Division, Specialized Pediatric Hospital, Cairo University, Egypt.
Objectives: To assess the outcome of pediatric pulmonary arterial hypertension (PAH) and to identify the predictors of morbidity and mortality of this progressive disease.
Patients And Methods: This prospective observational cohort study was conducted on consecutive pediatric patients with PAH. Medical history was taken with a grading of the WHO functional class as well as the serum N-terminal pro-BNP (NT pro-BNP), 6 min' walk test (6MWT), and echocardiography at the initial assessment and at follow-up.
Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma.
J Clin Invest
January 2025
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center - Zhongshan School of Medicine.
Nasopharyngeal carcinoma (NPC) presents a substantial clinical challenge due to the limited understanding of its genetic underpinnings. Here we conduct the largest scale whole-exome sequencing association study of NPC to date, encompassing 6,969 NPC cases and 7,100 controls. We unveil 3 germline genetic variants linked to NPC susceptibility: a common rs2276868 in RPL14, a rare rs5361 in SELE, and a common rs1050462 in HLA-B.
View Article and Find Full Text PDFWhat can we learn from pathophysiology and therapeutic targetable pathways from all genetic causes and associations in PH?
Int J Cardiol Congenit Heart Dis
September 2024
VPD Heart and Lung Research Institute, University of Cambridge, United Kingdom.
Pulmonary hypertension (PH) encompasses a group of conditions which ultimately lead to elevated pulmonary arterial pressure. PH is classified into five subgroups, of which Group 1 pulmonary arterial hypertension (PAH), is the most extensively studied. Numerous causal genes have been identified in PAH, most notably germline mutations in bone morphogenetic protein receptor type 2 () and the wider BMP pathway.
View Article and Find Full Text PDFThe Need for a Cancer Exposome Atlas: A Scoping Review.
JNCI Cancer Spectr
December 2024
Gangarosa Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
Background: Despite advances in understanding genetic susceptibility to cancer, much of cancer heritability remains unidentified. At the same time, the makeup of industrial chemicals in our environment only grows more complex. This gap in knowledge on cancer risk has prompted calls to expand cancer research to the comprehensive, discovery-based study of non-genetic environmental influences, conceptualized as the "exposome.
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