You're using an outdated browser. Please upgrade to a modern browser for the best experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
TRNA Modifications in Microorganisms
Transfer RNAs (tRNAs) are essential adaptors that mediate translation of the genetic code. Modifications to tRNA are installed as post-transcriptional events at multiple locations on the tRNA structure by specialized tRNA-modifying enzymes and can occur at the 2’OH group of the ribose moiety as well as various positions of all A, C, G, and U bases. These modifications are diverse in their chemical structures and functional properties, and respond to nutritional and environmental factors.
  • 1.7K
  • 18 Aug 2020
Topic Review
46,XX Testicular Disorder
46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.
  • 1.7K
  • 04 Jan 2021
Topic Review
CRISPR-Cas9
CRISPR-Cas9 is a simple two-component system that allows researchers to accurately edit any sequence in the genome of an organism. This is achieved by the guide RNA, which recognizes the target sequence, and the CRISPR-associated endonuclease (Cas) that cuts the targeted sequence.
  • 1.7K
  • 16 Dec 2020
Topic Review
DNA Polymerases
Recent studies on tumor genomes revealed that mutations in genes of replicative DNA polymerases cause a predisposition for cancer by increasing genome instability. The past 10 years have uncovered exciting details about the structure and function of replicative DNA polymerases and the replication fork organization. The principal idea of participation of different polymerases in specific transactions at the fork proposed by Morrison and coauthors 30 years ago and later named “division of labor,” remains standing, with an amendment of the broader role of polymerase δ in the replication of both the lagging and leading DNA strands. However, cancer-associated mutations predominantly affect the catalytic subunit of polymerase ε that participates in leading strand DNA synthesis. 
  • 1.7K
  • 14 Dec 2020
Topic Review
EDA-ID
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.
  • 1.6K
  • 04 Jan 2021
Topic Review
T-Cell Acute Lymphoblastic Leukemia
Thanks to the use of high-resolution genetic techniques to detect cryptic aberrations present in T-ALL, researchers now have a clearer view of the genetic landscape that explains the particular oncogenetic processes taking place in each T-ALL. They also have begun to understand relapse-specific mechanisms. To summarize the latest advances in the knowledge of the genome in T-ALL and highlight the areas where the research on this ALL subtype is progressing, thereby identifying the key issues that need to be addressed in the medium-to-long term to move forward in the applicability of this knowledge into clinics.
  • 1.6K
  • 02 Jun 2022
Topic Review
Wastewater Based Epidemiology
Wastewater-Based epidemiology (WBE) is spreading of any disease or disorder caused by the chemicals or pathogens that come from waste materials such as urine, fecal materials, medical waste  or any solid or liquid waste product. The extraction, detection, analysis, and interpretation of chemical/biological compounds (biomarkers) excreted in the sewage system can eventually contribute to WBE. So wastewater analysis could be equivalent to community-based urine and fecal analysis that can subsequently give a reflection  of community health. Under pandemic situation with time limitations and restrict access to massive diagnostic, an alternative approach as a complementary tool to investigate virus circulation in the community is essential. In the situation of limited and time-consuming diagnostic tests, monitoring sewage systems could better estimate the spread of the virus and determine whether there are potential cases because wastewater surveillance can also account for those who contract mild or asymptomatic state.
  • 1.6K
  • 06 Sep 2021
Topic Review
Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
  • 1.6K
  • 23 Dec 2020
Topic Review
CHD8 and Autism Spectrum Disorder
Autism spectrum disorder (ASD) encompasses a spectrum of early-onset neurodevelopmental disorders with an estimated prevalence of ~1.5% in developed countries. Patients present early deficits in social interaction and communication, repetitive patterns of behavior, and restricted interests and activities.Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient therapies of patients.
  • 1.6K
  • 11 Oct 2021
Topic Review
TGFB3 Gene
Transforming growth factor beta 3: The TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3).
  • 1.6K
  • 25 Dec 2020
Topic Review
Chronic Atrial and Intestinal Dysrhythmia
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system.
  • 1.6K
  • 24 Dec 2020
Topic Review
Avian Sex Reversal
Sex determination and differentiation are processes by which a bipotential gonad adopts either a testicular or ovarian cell fate, and secondary sexual characteristics adopt either male or female developmental patterns. In birds, although genetic factors control the sex determination program, sex differentiation is sensitive to hormones, which can induce sex reversal when disturbed. Although these sex-reversed birds can form phenotypes opposite to their genotypes, none can experience complete sex reversal or produce offspring under natural conditions. Promising evidence indicates that the incomplete sex reversal is associated with cell autonomous sex identity (CASI) of avian cells, which is controlled by genetic factors. 
  • 1.6K
  • 16 May 2023
Topic Review
MFN2 Gene
mitofusin 2
  • 1.6K
  • 22 Dec 2020
Topic Review
Hypertension
Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery walls is blood pressure, which is measured in units called millimeters of mercury (mmHg). The top number in a blood pressure reading is the pressure when the heart pumps (systolic blood pressure), and the bottom number is the pressure between heart beats (diastolic blood pressure). In adults, a normal blood pressure measurement is about 120/80 mmHg. Blood pressure is considered high when the measurement is 130/80 mmHg or greater.
  • 1.6K
  • 16 Jan 2022
Topic Review
P53
While viewed as the “guardian of the genome”, the importance of the tumor suppressor p53 protein has increasingly gained ever more recognition in modulating additional modes of action related to cell death. Slowly but surely, its importance has evolved from a mutated genetic locus heavily implicated in a wide array of cancer types to modulating lysosomal-mediated cell death either directly or indirectly through the transcriptional regulation of the key signal transduction pathway intermediates involved in this. Taken with its ability to directly modulate mitochondrial outer-membrane permeabilization (and cell death) collectively highlights the complex role that this protein undertakes at the molecular level
  • 1.6K
  • 07 Dec 2020
Topic Review
Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
  • 1.6K
  • 04 Feb 2021
Topic Review
Inheriting Genetic Conditions
It is not always easy to determine whether a condition in a family is inherited. A genetics professional can use a person's family history (a record of health information about a person's immediate and extended family) to help determine whether a disorder has a genetic component.
  • 1.6K
  • 24 Dec 2020
Topic Review
Application of Prime Editing to Liver Hereditary Diseases
Gene therapy holds tremendous potential in the treatment of inherited diseases. Unlike traditional medicines, which only treat the symptoms, gene therapy has the potential to cure the disease by addressing the root of the problem: genetic mutations. The discovery of CRISPR/Cas9 in 2012 paved the way for the development of those therapies. Improvement of this system led to the recent development of an outstanding technology called prime editing. This system can introduce targeted insertions, deletions, and all 12 possible base-to-base conversions in the human genome. Since the first publication on prime editing in 2019, groups all around the world have worked on this promising technology to develop a treatment for genetic diseases. Liver diseases are currently the most studied field for human gene therapy by prime editing. To date, prime editing has been attempted in preclinical studies for tyrosinemia type 1, alpha-1-antitrypsin deficiency, phenylketonuria, DGAT1-deficiency, bile salt export pump deficiency, liver cancer, and for a liver disease caused by a mutation in the DNMT1 gene.
  • 1.6K
  • 21 Feb 2023
Topic Review
ADCADN
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse.
  • 1.6K
  • 04 Jan 2021
Topic Review
KIT Gene
KIT proto-oncogene receptor tyrosine kinase
  • 1.6K
  • 23 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of COVID-19
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Academic Video Service
Feedback