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Topic Review
Arts Syndrome
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
  • 1.3K
  • 24 Dec 2020
Topic Review
Green Tea Catechins
Green tea and green tea catechins have been shown to be strongly inhibitory to cancer formation in rodents. They are believed to do this by altering cells after they have been initiated on the path toward cancer. Green tea and green tea catechin prevention of cancer in humans has been hard to detect. We discuss that the reason for this difference is likely to be the digestive tract microbiome. If green tea catechins are to be continue to be tested for cancer prevention properties in humans it will be necessary to take into account variable digestive tract microbiome metabolism in people so the dose can be optimized for each person thus avoiding toxicity. 
  • 1.3K
  • 03 Nov 2020
Topic Review
PIGA Gene
phosphatidylinositol glycan anchor biosynthesis class A
  • 1.3K
  • 25 Dec 2020
Topic Review
Autosomal Recessive Congenital Methemoglobinemia
Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).
  • 1.3K
  • 24 Dec 2020
Topic Review
MSTN Gene
Myostatin
  • 1.3K
  • 04 Jan 2021
Topic Review
Transcriptomes through mRNA Splicing
Human transcriptomes are more divergent than genes and contribute to the sophistication of life. This divergence is derived from various isoforms arising from alternative splicing. In addition, alternative splicing regulated by spliceosomal factors and RNA structures, such as the RNA G-quadruplex, is important not only for isoform diversity but also for regulating gene expression. Therefore, abnormal splicing leads to serious diseases such as cancer and neurodegenerative disorders.We describe the regulation of divergent transcriptomes using alternative mRNA splicing.
  • 1.3K
  • 01 Nov 2020
Topic Review
RNA Interference in Fungi
RNA interference (RNAi) was discovered at the end of last millennium, changing the way scientists understood regulation of gene expression. Within the following two decades, a variety of different RNAi mechanisms were found in eukaryotes, reflecting the evolutive diversity that RNAi entails. The essential silencing mechanism consists of an RNase III enzyme called Dicer that cleaves double-stranded RNA (dsRNA) generating small interfering RNAs (siRNAs), a hallmark of RNAi. These siRNAs are loaded into the RNA-induced silencing complex (RISC) triggering the cleavage of complementary messenger RNAs by the Argonaute protein, the main component of the complex. Consequently, the expression of target genes is silenced. This mechanism has been thoroughly studied in fungi due to their proximity to the animal phylum and the conservation of the RNAi mechanism from lower to higher eukaryotes. However, the role and even the presence of RNAi differ across the fungal kingdom, as it has evolved adapting to the particularities and needs of each species. Fungi have exploited RNAi to regulate a variety of cell activities as different as defense against exogenous and potentially harmful DNA, genome integrity, development, drug tolerance, or virulence. This pathway has offered versatility to fungi through evolution, favoring the enormous diversity this kingdom comprises. 
  • 1.3K
  • 11 Oct 2021
Topic Review
Histidine-Based Carriers
During the past two decades, there have been significant advances in nucleic acid carriers modified by histidines or histidine-rich domains.  There are several properties of histidines, primarily emanating from their buffering of acidic endosomes, which augment transfection.  These roles from protonated histidines include osmotic swelling with lysis of endosomes, unpacking of the carrier complex, and release of the nucleic acids to enable the carrier to interact with the endosomal membrane.  Histidines or histidine-rich peptides have been incorporated into polymers, conjugated to lipids, phages, and mesoporous silica particles, as well as formed shields around nanoparticles.  These carriers have demonstrated significant potential to import into the cytosol different forms of nucleic acids including plasmids, siRNA, and mRNA. 
  • 1.3K
  • 08 Nov 2020
Topic Review
The NFX1 Gene
The official name of the gene NFX1 in humans (Gene ID 4799 at NCBI) is Nuclear Transcription Factor, X-box binding 1. It is also known as NF-X1, NFX-1, NF.X1, NFX2, Tex42, and TEG-42 in the literature. For clarity, we will use the italicized term NFX1 for the human gene, and we will use NFX1 or isoform-specific names when discussing the human gene products. Regardless of this nomenclature, NFX1 has homologs across species. 
  • 1.3K
  • 05 May 2021
Topic Review
HBA2 Gene
Hemoglobin subunit alpha 2
  • 1.3K
  • 22 Dec 2020
Topic Review
Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
  • 1.3K
  • 24 Dec 2020
Topic Review
Dandy-Walker Malformation
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
  • 1.3K
  • 24 Dec 2020
Topic Review
EDAR Gene
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
  • 1.3K
  • 24 Dec 2020
Topic Review
Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."
  • 1.3K
  • 25 Dec 2020
Topic Review
ADNFLE
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
  • 1.3K
  • 04 Jan 2021
Topic Review
MN1 C-Terminal Truncation Syndrome
MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.
  • 1.3K
  • 23 Dec 2020
Topic Review
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
  • 1.3K
  • 31 Dec 2020
Topic Review
Waardenburg Syndrome
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
  • 1.3K
  • 23 Dec 2020
Topic Review
TNXB Gene
Tenascin XB: The TNXB gene provides instructions for making a protein called tenascin-X.
  • 1.2K
  • 25 Dec 2020
Topic Review
Genetic Therapy for Spina Bifida
Spina bifida (SB) is the most common congenital defect of the central nervous system. Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.
  • 1.2K
  • 24 Jun 2022
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