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Topic Review
Mucolipidosis III Alpha/Beta
Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.
  • 559
  • 23 Dec 2020
Topic Review
CLN5 Gene
CLN5, intracellular trafficking protein
  • 558
  • 24 Dec 2020
Topic Review
MMP14 Gene
matrix metallopeptidase 14
  • 557
  • 22 Dec 2020
Topic Review
Lafora Progressive Myoclonus Epilepsy
Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.
  • 552
  • 23 Dec 2020
Topic Review
CHMP2B Gene
charged multivesicular body protein 2B
  • 549
  • 24 Dec 2020
Topic Review
MPV17 Gene
mitochondrial inner membrane protein MPV17
  • 548
  • 23 Dec 2020
Topic Review
BPH-Resistance Gene Mapping
The brown planthopper (Nilaparvata lugens Stål, BPH) is one of the most serious pests that harm rice production. N. lugens soaks up phloem sap by inserting needle-like stylets into the vascular tissue of rice (Oryza sativa L.). Utilizing the inherent resistance has been widely considered as the most cost-effective method for sustainable BPH control. To date, more than 49 BPH-resistance genes/QTLs have been detected and rice varieties containing one or more BPH-resistance genes/QTLs have been developed to reduce the loss of rice yield induced by BPH feeding.
  • 548
  • 05 Dec 2023
Topic Review
GRIP1 Gene
Glutamate receptor interacting protein 1
  • 547
  • 22 Dec 2020
Topic Review
MSX1 Gene
msh homeobox 1
  • 544
  • 23 Dec 2020
Topic Review
KCNJ5 Gene
Potassium voltage-gated channel subfamily J member 5
  • 543
  • 23 Dec 2020
Topic Review
Epigenetic Alterations of Bladder Cancer
Bladder cancer (BLCA) is one of the most common types of malignant tumors of the urogenital system in adults. BLCA predominantly originates in the urothelium, which refers to the epithelial tissue lining the inner surface of the bladder and other urinary organs. This characteristic gives rise to urothelial carcinoma, which represents the most prevalent form of bladder cancer, constituting approximately 80–90 percent of all BLCA cases.
  • 542
  • 27 Jun 2023
Topic Review
NLRP12 Gene
NLR family pyrin domain containing 12
  • 540
  • 23 Dec 2020
Topic Review
JAK3-Deficient Severe Combined Immunodeficiency
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people.
  • 540
  • 23 Dec 2020
Topic Review
HNRNPK Gene
Heterogeneous nuclear ribonucleoprotein K
  • 538
  • 23 Dec 2020
Topic Review
Genetic Diversity of Hydro Priming
Seed priming refers to seed enhancement methods that stimulate seed metabolism. This study evaluated the genetic diversity of hydro priming efficacy in 27 different genotypes of rice under dry to wet soil moisture conditions. The genotypes included 21 genotypes of Oryza sativa, five genotypes of Oryza glaberrima, and one genotype of NERICA (New Rice for Africa). The treated rice seeds were sown in plastic boxes under four soil moisture conditions (5%, 10%, 15%, and 20% (w/w)). The genotypes were categorized into six groups based on growth parameters using hierarchical cluster analysis. Furthermore, emergence properties were investigated by using principal component analysis based on the mean emergence time of control and primed seeds. Seed priming enhanced growth performance under the moderate dry conditions of 10% and 15% soil moisture. Meanwhile, priming efficacy was low in water stress conditions of 5% and 20% soil moisture. There were wide-ranging genotypic differences of priming efficacy under 20% soil moisture condition. Our findings indicate that the anaerobic-tolerant genotypes tend to exhibit priming efficacy under high soil moisture conditions. Furthermore, one group included all upland genotypes of O. sativa. This group originally adapted to 10% and 15% of dry conditions, and seed priming improved their features greatly.
  • 538
  • 15 Mar 2021
Topic Review
Calcium Handling in Inherited Cardiac Diseases
Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation–contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca2+ can cause different types of cardiac dysfunction. Thus, the remodeling of Ca2+ handling has been proposed to be a part of the pathological mechanism leading to electrical and structural heart diseases. Indeed, to ensure appropriate electrical cardiac conduction and contraction, Ca2+ levels are regulated by several Ca2+-related proteins.
  • 536
  • 16 Feb 2023
Topic Review
Laryngo-Onycho-Cutaneous Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous).
  • 535
  • 23 Dec 2020
Topic Review
Necessity of SMA Newborn Screening
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was proved in 1990. Five years later, in 1995, the gene responsible for SMA, SMN1, was identified. Genetic testing of SMN1 has enabled precise epidemiological studies, revealing that SMA occurs in 1 of 10,000 to 20,000 live births and that more than 95% of affected patients are homozygous for SMN1 deletion. In 2016, nusinersen was the first drug approved for treatment of SMA in the United States. Two other drugs were subsequently approved: onasemnogene abeparvovec and risdiplam. Clinical trials with these drugs targeting patients with pre-symptomatic SMA (those who were diagnosed by genetic testing but showed no symptoms) revealed that such patients could achieve the milestones of independent sitting and/or walking. Following the great success of these trials, population-based newborn screening programs for SMA (more precisely, SMN1-deleted SMA) have been increasingly implemented worldwide. Early detection by newborn screening and early treatment with new drugs are expected to soon become the standards in the field of SMA.
  • 532
  • 01 Aug 2023
Topic Review Peer Reviewed
Gene Editing: The Regulatory Perspective
Gene or genome editing, often known as GE, is a technique utilized to modify, eliminate, or substitute a mutated gene at the DNA level. It serves as a valuable tool in the field of genetic manipulation. Gene therapy (GT) is a therapeutic approach that aims to correct mutations by delivering a functional gene copy into the body. In contrast, the mutated gene remains in the genome. It is considered a form of medical intervention. No approval has been granted for any product manufactured by GE, in contrast to the approval of 22 medications produced by GT. These GT products are priced at millions of US dollars each dose. The Food and Drug Administration (FDA) has recently implemented a guideline about gene editing, which aims to facilitate the expedited creation of genetically engineered (GE) goods. However, the FDA must provide further elucidation and necessary revisions to enhance the rationality of this guideline.
  • 530
  • 27 Oct 2023
Topic Review
MYD88 Wild Type in IgM Monoclonal Gammopathies
High frequencies of MYD88L265P mutation are observed in IgM monoclonal gammopathies, and specifically in Waldenström macroglobulinemia (WM), indicating this mutation as a potential disease biomarker.
  • 530
  • 27 Nov 2023
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