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Topic Review
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
  • 944
  • 24 Dec 2020
Topic Review
Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas
Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors formed from paraganglionic tissue. Since 2017, PPGLs have been classified as tumors with variable potential to metastasize. Metastasizing PPGLs are usually difficult to diagnose and require evidence of regional or distant metastasis. Data on diagnostic and prognostic molecular markers for PPGL malignancy are limited, and many of the proposed factors remain controversial. There is a significant gap in the understanding of tumor pathogenesis, as well as the treatment and management of patients with PPGLs. This entry summarized the current findings on the potential markers for distinguishing between metastasizing and benign tumors, as well as on the prediction of aggressive behavior of PPGLs, especially of those localized in the head and neck region.
  • 944
  • 11 Nov 2021
Topic Review
CyberGenomics
Cybersecurity (CS) field is a complex discipline with multiple layers. We deconstruct the CS specialist as a material (naturally/ genetically determined) and non-material (psychologically determined) entity. This entity is mapped to CS competences required to conduct everyday tasks where psychological factors are also present (e.g. stress). All the structural prerequisites for the development and functioning of the psyche are genetically coded and controlled. Behavior genetics addresses the interdisciplinary effort to establish causal links between genomic loci and human behavioral traits and neural mechanisms. Almost every human behavioral trait is a result of many genome variants in action altogether with environmental factors. Cybergenomics focuses on contextualizing the behavior genetics aspects in the application of cybersecurity.
  • 944
  • 30 Nov 2021
Topic Review
Channelopathy Genes in Pulmonary Arterial Hypertension
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Roles for rare variants in three channelopathy genes—ABCC8, ATP13A3, and KCNK3—have been validated in multiple PAH cohorts, and in aggregate explain ~2.7% of PAH cases. Complete or partial loss of function has been demonstrated for PAH-associated variants in ABCC8 and KCNK3. Channels can be excellent targets for drugs, and knowledge of mechanisms for channel mutations may provide an opportunity for the development of PAH biomarkers and novel therapeutics for patients with hereditary PAH but also potentially more broadly for all patients with PAH.
  • 944
  • 28 Feb 2022
Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 943
  • 22 Dec 2020
Topic Review
Oculofaciocardiodental Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.
  • 943
  • 24 Dec 2020
Topic Review
Crouzon Syndrome with Acanthosis Nigricans
Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.mas.
  • 943
  • 24 Dec 2020
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 943
  • 24 Dec 2020
Topic Review
Senior-Løken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
  • 943
  • 25 Dec 2020
Topic Review
Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
  • 942
  • 23 Dec 2020
Topic Review
APOA1 Gene
apolipoprotein A1. The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I). 
  • 942
  • 24 Dec 2020
Topic Review
Roberts Syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities.
  • 942
  • 24 Dec 2020
Topic Review
Genetic Testing for Antipsychotic Pharmacotherapy
Genetic testing is increasingly utilized to identify genetic biomarkers for optimizing the efficacy and tolerability of psychotropic drugs, especially antidepressants. However, genetic testing is also being requested to enhance the effectiveness of antipsychotic drugs, which is especially true for the treatment-refractory schizophrenia population, who frequently experience irrational polypharmacy at high dosages with significant adverse effects, generally without much therapeutic benefit.
  • 942
  • 27 Jul 2021
Topic Review
Epigenome-Wide Association Study (EWAS)
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
  • 942
  • 16 Nov 2022
Topic Review
MicroRNAs-Based Therapeutic Strategies in TNBC
Triple Negative breast cancer is unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies. As there are currently no other therapeutic options to treat TNBC apart from chemotherapy, various studies were reviewed to draw the conclusion that ncRNAs might be candidates for drug development and drug resistance. Targeted approaches to epigenetic mechanisms and clarification of the molecular mechanisms of specific miRNAs in TNBC subtypes are fully justified. Currently, TNBC with BLP is the only subtype for which we might suggest some therapeutic hypotheses based on miRNA/mRNA integration. This review might provide a collection of biomarkers potentially useful in clinical settings and shows that the combination of miRNA-based therapeutic strategies with conventional therapies might synergize anticancer effects improving patient outcome. 
  • 941
  • 16 Nov 2020
Topic Review
SMA-PME
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).  
  • 941
  • 23 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 941
  • 23 Dec 2020
Topic Review
LIPH Gene
Lipase H
  • 941
  • 23 Dec 2020
Topic Review
Cowden Syndrome
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
  • 941
  • 24 Dec 2020
Topic Review
Dopamine Transporter Deficiency Syndrome
Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later.
  • 941
  • 24 Dec 2020
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