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Topic Review
MED13L Syndrome
MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).
  • 1.3K
  • 24 Dec 2020
Topic Review
Heme oxygenase-1
Heme oxygenases (E.C. 1:14:99:33) are vital metabolic enzymes that catalyze the rate-limiting step in the degradation of heme, with the generation of carbon monoxide, biliverdin, and iron.  The inducible form, heme oxygenase-1 (HO-1), is a stress protein, whose expression is responsive to a broad spectrum of adverse chemical and physical stimuli.  HO-1 is known to provide cytoprotection and can exert anti-inflammatory and immunomodulatory effects in tissues, via heme removal. HO-1 is a potential therapeutic target in inflammatory diseases. The end-products of HO-1 activity, including carbon monoxide, may contribute to HO-1 mediated protection. Carbon monoxide delivery by inhalation at low concentration, as well as through application of carbon monoxide releasing molecules (CORMs), has been explored for  therapeutic potential. Recently completed clinical trials have evaluated the safety and feasibility of inhaled CO as a therapy for acute and chronic lung disease,
  • 1.3K
  • 14 Dec 2020
Topic Review
Transplacental Gene Delivery
Transplacental gene delivery (TPGD) is a technique for delivering nucleic acids to fetal tissues via tail-vein injections in pregnant mice. After transplacental transport, administered nucleic acids enter fetal circulation and are distributed among fetal tissues. In 1995, TPGD was established by Tsukamoto et al., and its mechanisms, and potential applications have been further characterized since. In 2019, Nakamura et al. demonstrated that intravenous injection of plasmid DNA containing genome editing component (CRISPR/Cas9 system) produced indels in fetal myocardial cells. In the future, this unique technique will allow manipulation of fetal cell functions in basic studies of fetal gene therapy.
  • 1.3K
  • 31 Jul 2020
Topic Review
Disorders of Sex Development
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are medical conditions involving the reproductive system. More specifically, these terms refer to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical." The term has been controversial, and research has shown that affected people experience a negative impact, with the terminology impacting choice and utilization of health care providers. The World Health Organization and many medical journals still reference DSDs as intersex traits or conditions. The Council of Europe and Inter-American Commission on Human Rights have called for a review of medical classifications that unnecessarily medicalize intersex traits.
  • 1.3K
  • 09 Oct 2022
Topic Review
Jacobsen Syndrome
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
  • 1.3K
  • 23 Dec 2020
Topic Review
Sonic Hedgehog
Sonic hedgehog is a protein encoded for by the SHH gene. The protein is named after the character Sonic the Hedgehog. This signaling molecule is key in regulating embryonic morphogenesis in all different types of animals. SHH controls organogenesis and the organization of the central nervous system, limbs, digits and many other parts of the body. Sonic hedgehog is a morphogen that patterns the developing embryo using a concentration gradient characterized by the French Flag model. This model has a non-uniform distribution of SHH molecules which governs different cell fates according to concentration. Mutations in this gene can cause holoprosencephaly, a failure of splitting in the cerebral hemispheres, as demonstrated in an experiment using SHH knock-out mice in which the forebrain midline failed to develop and instead only a single fused telencephalic vesicle resulted. Sonic hedgehog still plays a role in differentiation, proliferation, and maintenance of adult tissues. Abnormal activation of SHH signaling in adult tissues has been implicated in various types of cancers including breast, skin, brain, liver, gallbladder and many more.
  • 1.3K
  • 21 Nov 2022
Topic Review
FBLN5 Gene
Fibulin 5: The FBLN5 gene provides instructions for making a protein called fibulin-5. 
  • 1.2K
  • 25 Dec 2020
Topic Review
Genetic Aspects of Seed Longevity
Seed longevity is the most important trait related to the management of gene banks because it governs the regeneration cycle of seeds. Thus, seed longevity is a quantitative trait. Prior to the discovery of molecular markers, classical genetic studies have been performed to identify the genetic determinants of this trait. Post-2000 saw the use of DNA-based molecular markers and modern biotechnological tools, including RNA sequence (RNA-seq) analysis, to understand the genetic factors determining seed longevity.
  • 1.2K
  • 06 May 2022
Topic Review
Sleeping Beauty Transposon System
Sleeping Beauty (SB) is a transposon system that has been widely used as a genetic engineering tool. Central to the development of any transposon as a research tool is the ability to integrate a foreign piece of DNA into the cellular genome. Driven by the need for efficient transposon-based gene vector systems, extensive studies have largely elucidated the molecular actors and actions taking place during SB transposition. Close transposon relatives and other recombination enzymes, including retroviral integrases, have served as useful models to infer functional information relevant to SB. Recently obtained structural data on the SB transposase enable a direct insight into the workings of this enzyme. These efforts cumulatively allowed the development of novel variants of SB that offer advanced possibilities for genetic engineering due to their hyperactivity, integration deficiency, or targeting capacity. However, many aspects of the process of transposition remain poorly understood and require further investigation. We anticipate that continued investigations into the structure–function relationships of SB transposition will enable the development of new generations of transposition-based vector systems, thereby facilitating the use of SB in preclinical studies and clinical trials.
  • 1.2K
  • 27 Jan 2021
Topic Review
Chromosome 19
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 19, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
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