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Topic Review
Silver Syndrome
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.0K
  • 25 Dec 2020
Topic Review
PC Gene
pyruvate carboxylase
  • 1.0K
  • 25 Dec 2020
Topic Review
Fundus Albipunctatus
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.
  • 1.0K
  • 23 Dec 2020
Topic Review
CHILD Syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.
  • 1.0K
  • 04 Jan 2021
Topic Review
Estimation of Genetic Ancestry
Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. 
  • 1.0K
  • 09 Jul 2021
Topic Review
Autoinflammatory Diseases in Children
Abnormalities of the innate immunity machinery make up a motley group of rare diseases named ‘autoinflammatory’, which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Dysregulated inflammasome activity, overproduction of interleukin (IL)-1 or other IL-1-related cytokines and delayed shutdown of inflammation are pivotal keys in the majority of ADs. The recent progress of cellular biology has clarified many molecular mechanisms behind monogenic ADs, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome (or ‘autosomal dominant familial periodic fever’), cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, hereditary pyogenic diseases, idiopathic granulomatous diseases and defects of the ubiquitin-proteasome pathway. A long-lasting history of recurrent fevers should require the ruling out of chronic infections and malignancies before considering ADs in children.
  • 1.0K
  • 15 Aug 2022
Topic Review
Persistent Müllerian Duct Syndrome
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.
  • 1.0K
  • 24 Dec 2020
Topic Review
Post-Translational Modifications in Colorectal Cancer
Colorectal cancer (CRC) is one of the most common cancers worldwide. Its main modifiable risk factors are diet, alcohol consumption, and smoking. Thus, the right approach through lifestyle changes may lead to its prevention. Although cancer is a multi-factorial process, the study of post-translational modifications (PTMs) of proteins associated with CRC has gained interest, as inappropriate modification is closely related to the activation of cell signalling pathways involved in carcinogenesis. 
  • 1.0K
  • 06 Feb 2023
Topic Review
Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females.
  • 1.0K
  • 23 Dec 2020
Topic Review
Polycythemia Vera
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
  • 1.0K
  • 24 Dec 2020
Topic Review
Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder of early brain development.
  • 1.0K
  • 25 Dec 2020
Topic Review
Rosacea
Rosacea is a long-lasting (chronic) skin disease that affects the face, primarily the forehead, nose, cheeks, and chin. The signs and symptoms of rosacea vary, and they may come and go or change over time.
  • 1.0K
  • 04 Jan 2021
Topic Review
MicroRNAs in Thyroid Cancers Prognosis
Current prognostication systems have inherent limitations associated with the prediction of recurrence risk from thyroid cancer (TC). Recent studies identified associations between specific levels of microRNAs and aggressive TC clinicopathological features.
  • 1.0K
  • 26 Oct 2020
Topic Review
B Chromosomes in Psalidodon scabripinnis Species Complex
B chromosomes are extra-genomic components of cells found in individuals and in populations of some eukaryotic organisms. They have been described since the first observations of chromosomes, but several aspects of their biology remain enigmatic. Despite being present in hundreds of fungi, plants, and animal species, only a small number of B chromosomes have been investigated through high-throughput analyses, revealing the remarkable mechanisms employed by these elements to ensure their maintenance. Populations of the Psalidodon scabripinnis species complex exhibit great B chromosome diversity, making them a useful material for various analyses.
  • 1.0K
  • 15 Sep 2022
Topic Review
DLD Gene
Dihydrolipoamide Dehydrogenase: The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. 
  • 1.0K
  • 24 Dec 2020
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 1.0K
  • 19 Apr 2021
Topic Review
Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 1.0K
  • 24 Dec 2020
Topic Review
Protein Variants in Cancer-Related Genes
Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this entry we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. 
  • 1.0K
  • 22 Sep 2021
Topic Review
Tibial Muscular Dystrophy
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg.
  • 1.0K
  • 23 Dec 2020
Topic Review
Genetic Testing for Antipsychotic Pharmacotherapy
Genetic testing is increasingly utilized to identify genetic biomarkers for optimizing the efficacy and tolerability of psychotropic drugs, especially antidepressants. However, genetic testing is also being requested to enhance the effectiveness of antipsychotic drugs, which is especially true for the treatment-refractory schizophrenia population, who frequently experience irrational polypharmacy at high dosages with significant adverse effects, generally without much therapeutic benefit.
  • 1.0K
  • 27 Jul 2021
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