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Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 960
  • 27 May 2022
Topic Review
Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).
  • 959
  • 23 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.
  • 959
  • 24 Dec 2020
Topic Review
Mycobacterium tuberculosis and HIV-1: Evolution
This entry reviews the genetic evolution and adaptation to the host environment of M. tuberculosis and HIV-1. It provides an overview of the latest developments in the knowledge about the genetic diversity of these devastating intracellular human pathogens and its impact on the host immune system, virulence, drug resistance propensity and other relevant aspects. We also proposed a novel topic in the literature regarding the use of single cell "omics" to study the interacting evolutionary dynamics of M. tuberculosis and HIV-1 in co-infection, at the cellular niche of monocytes/macrophages.
  • 959
  • 20 Jan 2021
Topic Review
Telomeric and Sub-Telomeric in Fungal
Telomeres are long non-coding regions found at the ends of eukaryotic linear chromosomes. Although they have traditionally been associated with the protection of linear DNA ends to avoid gene losses during each round of DNA replication, the role of these sequences and their adjacent regions go beyond just protecting chromosomal ends. Regions nearby to telomeric sequences have now been identified as having increased variability in the form of duplications and rearrangements that result in new functional abilities and biodiversity.
  • 959
  • 09 Oct 2023
Topic Review
MT-TS1 Gene
mitochondrially encoded tRNA serine 1 (UCN)
  • 958
  • 23 Dec 2020
Topic Review
TSHR Gene
thyroid stimulating hormone receptor
  • 958
  • 23 Dec 2020
Topic Review
Intranuclear Rod Myopathy
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 958
  • 23 Dec 2020
Topic Review
Alpha Thalassemia
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
  • 958
  • 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.
  • 958
  • 11 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.
  • 958
  • 28 Feb 2022
Topic Review
Dissecting Polygenic Etiology of Ischemic Stroke
Ischemic stroke (IS), the leading cause of death and disability worldwide, is caused by many modifiable and non-modifiable risk factors. This complex disease is also known for its multiple etiologies with moderate heritability. Polygenic risk scores (PRSs), which have been used to establish a common genetic basis for IS, may contribute to IS risk stratification for disease/outcome prediction and personalized management. Statistical modeling and machine learning algorithms have contributed significantly to this field. For instance, multiple algorithms have been successfully applied to PRS construction and integration of genetic and non-genetic features for outcome prediction to aid in risk stratification for personalized management and prevention measures. PRS derived from variants with effect size estimated based on the summary statistics of a specific subtype shows a stronger association with the matched subtype. The disruption of the extracellular matrix and amyloidosis account for the pathogenesis of cerebral small vessel disease (CSVD). Pathway-specific PRS analyses confirm known and identify novel etiologies related to IS.
  • 958
  • 20 Oct 2022
Topic Review
Subcortical Band Heterotopia
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.
  • 957
  • 23 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.
  • 957
  • 24 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.
  • 957
  • 24 Dec 2020
Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 956
  • 24 Dec 2020
Topic Review
CEBPA-Dependent Familial Acute Myeloid Leukemia
Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection; red blood cells (erythrocytes) that carry oxygen; and platelets (thrombocytes), which are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 956
  • 04 Jan 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.
  • 956
  • 30 Nov 2021
Topic Review
Humans and the Olfactory Environment
The sense of smell is underappreciated. Though less crucial than sight or hearing, it tells about what people neither see nor hear. It also enriches sight and hearing with biochemical data on objects of interest. Finally, by producing disgust or pleasure, it helps decide whether such objects should be avoided or approached. Humans have remade their olfactory environment, typically by making it more pleasant-smelling, just as they have remade their visual environment to make it more pleasant-looking. But the process has not been one-way. By remaking the environment, people have ended up remaking ourselves. On the one hand, humans have been creating more and more of their world; on the other hand, this human-created world has been modifying their genomes via natural selection.  
  • 956
  • 16 Jun 2022
Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 955
  • 22 Dec 2020
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