scholarly journals Multiple gene-to-gene interactions in children with sepsis: a combination of five gene variants predicts outcome of life-threatening sepsis

Critical Care ◽  
2014 ◽  
Vol 18 (1) ◽  
Author(s):  
Petr Jabandziev ◽  
Michal Smerek ◽  
Jaroslav Michalek ◽  
Michal Fedora ◽  
Lucie Kosinova ◽  
...  
2021 ◽  
Vol 22 (18) ◽  
pp. 10149
Author(s):  
Laura Caliogna ◽  
Viviana Guerrieri ◽  
Salvatore Annunziata ◽  
Valentina Bina ◽  
Alice Maria Brancato ◽  
...  

Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue disorders characterized by an abnormal collagen synthesis affecting skin, ligaments, joints, blood vessels, and other organs. It is one of the oldest known causes of bruising and bleeding, and it was described first by Hippocrates in 400 BC. In the last years, multiple gene variants involved in the pathogenesis of specific EDS subtypes have been identified; moreover, new clinical diagnostic criteria have been established. New classification models have also been studied in order to differentiate overlapping conditions. Moreover, EDS shares many characteristics with other similar disorders. Although distinguishing between these seemingly identical conditions is difficult, it is essential in ensuring proper patient care. Currently, there are many genetic and molecular studies underway to clarify the etiology of some variants of EDS. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. In this review, we focused on the study of two of the most common forms of EDS—classic and hypermobile—by trying to identify possible biomarkers that could be of great help to confirm patients’ diagnosis and their follow up.


2021 ◽  
Vol 11 (12) ◽  
pp. 1262
Author(s):  
Gesche Jürgens

The implementation of pharmacogenetic tests including multiple gene variants has shown promising potential as a decision-making tool for optimizing psychopharmacological treatment regimens and reducing treatment costs. However, the varying clinical validity of gene variants included in pharmacogenetic test batteries, and inconsistencies in their translation into medical recommendations between commercially available pharmacogenetic tests, complicates their rational implementation. Thus, there is a need for well-designed, reproducible studies documenting the clinical significance of the various genetic variants.


2013 ◽  
Vol 6 (S2) ◽  
Author(s):  
Kyunga Kim ◽  
Min-Seok Kwon ◽  
Sohee Oh ◽  
Taesung Park

2013 ◽  
Vol 6 (1) ◽  
Author(s):  
Hongying Dai ◽  
Richard J Charnigo ◽  
Mara L Becker ◽  
J Steven Leeder ◽  
Alison A Motsinger-Reif

2001 ◽  
Vol 178 (S40) ◽  
pp. s8-s11 ◽  
Author(s):  
James C. Anthony

BackgroundThe human genome dwells within environment, determines environment and its expression is shaped by environment.AimsTo introduce ‘psychiatric enviromics’ as a complement to human genomics and proteomics as applied to mental health.MethodSelective literature review and synthesis.Results and conclusionsPsychiatric enviromics can be planned to sustain the search for specific environments or environmental processes and conditions that promote mental health and reduce the occurrence of psychiatric disturbances. Subsets of the psychiatric envirome will be discovered to have functional importance precisely because specific environmental conditions or processes will reduce, amplify or otherwise modulate the expression of specific genes or multiple gene interactions at identifiable periods of life-span development. Other salubrious environmental conditions and processes will have funtional importance but lack specificity of action with respect to gene expression. An international collaboration in the form of a review of evidence is proposed as a starting point for ‘psychatric enviromics’.


Gene ◽  
2013 ◽  
Vol 530 (1) ◽  
pp. 113-118 ◽  
Author(s):  
Cornelie Nienaber-Rousseau ◽  
Suria M. Ellis ◽  
Sarah J. Moss ◽  
Alida Melse-Boonstra ◽  
G. Wayne Towers

2005 ◽  
Vol 12 (7) ◽  
pp. e51-e54 ◽  
Author(s):  
Ambros Huber ◽  
Eva-Katrin Bentz ◽  
Christian Schneeberger ◽  
Johannes C. Huber ◽  
Lukas Hefler ◽  
...  

2002 ◽  
Vol 1 (1-2) ◽  
pp. 29-35 ◽  
Author(s):  
Giuseppina Candore ◽  
Domenico Lio ◽  
Giuseppina Colonna Romano ◽  
Calogero Caruso

2010 ◽  
Vol 26 (15) ◽  
pp. 1871-1878 ◽  
Author(s):  
Xing Hua ◽  
Han Zhang ◽  
Hong Zhang ◽  
Yaning Yang ◽  
Anthony Y.C. Kuk

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Priyanka Banerjee ◽  
Premanand Balraj ◽  
Nilesh Sudhakar Ambhore ◽  
Sarah A. Wicher ◽  
Rodney D. Britt ◽  
...  

AbstractAirway smooth muscle (ASM) is known for its role in asthma exacerbations characterized by acute bronchoconstriction and remodeling. The molecular mechanisms underlying multiple gene interactions regulating gene expression in asthma remain elusive. Herein, we explored the regulatory relationship between ASM genes to uncover the putative mechanism underlying asthma in humans. To this end, the gene expression from human ASM was measured with RNA-Seq in non-asthmatic and asthmatic groups. The gene network for the asthmatic and non-asthmatic group was constructed by prioritizing differentially expressed genes (DEGs) (121) and transcription factors (TFs) (116). Furthermore, we identified differentially connected or co-expressed genes in each group. The asthmatic group showed a loss of gene connectivity due to the rewiring of major regulators. Notably, TFs such as ZNF792, SMAD1, and SMAD7 were differentially correlated in the asthmatic ASM. Additionally, the DEGs, TFs, and differentially connected genes over-represented in the pathways involved with herpes simplex virus infection, Hippo and TGF-β signaling, adherens junctions, gap junctions, and ferroptosis. The rewiring of major regulators unveiled in this study likely modulates the expression of gene-targets as an adaptive response to asthma. These multiple gene interactions pointed out novel targets and pathways for asthma exacerbations.


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