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Topic Review
IDH2 Gene
Isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
  • 787
  • 23 Dec 2020
Topic Review
SAA1 Gene
serum amyloid A1
  • 787
  • 24 Dec 2020
Topic Review
DKC1 Gene
Dyskerin Pseudouridine Synthase 1: The DKC1 gene provides instructions for making a protein called dyskerin. 
  • 787
  • 24 Dec 2020
Topic Review
SIX1 Gene
SIX homeobox 1
  • 787
  • 24 Dec 2020
Topic Review
Dopamine Beta-hydroxylase Deficiency
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
  • 787
  • 24 Dec 2020
Topic Review
Reproductive Journey in Genomic Era
The aim of this entry is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.
  • 787
  • 29 Dec 2020
Topic Review
Sézary Syndrome
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.  
  • 786
  • 23 Dec 2020
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 786
  • 23 Dec 2020
Topic Review
Unverricht-Lundborg Disease
Unverricht-Lundborg disease is a rare inherited form of epilepsy.
  • 786
  • 23 Dec 2020
Topic Review
WNT4 Gene
Wnt family member 4: The WNT4 gene belongs to a family of WNT genes that play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.
  • 786
  • 24 Dec 2020
Topic Review
ADAMTSL4 Gene
ADAMTS like 4
  • 786
  • 05 Apr 2021
Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 786
  • 25 Dec 2020
Topic Review
Biological Mechanisms Causing Religiosity
The evolutionary psychology of religion is the study of religious belief using evolutionary psychology principles. It is one approach to the psychology of religion. As with all other organs and organ functions, the brain's functional structure is argued to have a genetic basis, and is therefore subject to the effects of natural selection and evolution. Evolutionary psychologists seek to understand cognitive processes, religion in this case, by understanding the survival and reproductive functions they might serve.
  • 786
  • 17 Nov 2022
Topic Review
Hailey-Hailey Disease
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.
  • 785
  • 23 Dec 2020
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 785
  • 19 Apr 2021
Topic Review
NR0B1 Gene
nuclear receptor subfamily 0 group B member 1
  • 785
  • 24 Dec 2020
Topic Review
SLC25A24 Gene
solute carrier family 25 member 24
  • 785
  • 24 Dec 2020
Topic Review
Erythrokeratodermia Variabilis et Progressiva
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features.
  • 785
  • 25 Dec 2020
Topic Review
Diseases Associated with the Mother’s Curse
The mitochondrion was characterized for years as the energy factory of the cell, but now its role in many more cellular processes is recognized. The mitochondrion and mitochondrial DNA (mtDNA) also possess a set of distinct properties, including maternal inheritance, that creates the Mother’s Curse phenomenon. As mtDNA is inherited from females to all offspring, mutations that are harmful to males tend to accumulate more easily. The Mother’s Curse is associated with various diseases, and has a significant effect on males, in many cases even affecting their reproductive ability. Sometimes, it even leads to reproductive isolation, as in crosses between different populations, the mitochondrial genome cannot cooperate effectively with the nuclear one resulting in a mito-nuclear incompatibility and reduce the fitness of the hybrids. This phenomenon is observed both in the laboratory and in natural populations, and have the potential to influence their evolution and speciation. Therefore, it turns out that the study of mitochondria is an exciting field that finds many applications, including pest control, and it can shed light on the molecular mechanism of several diseases, improving successful diagnosis and therapeutics. Finally, mito-nuclear co-adaptation, paternal leakage, and kin selection are some mechanisms that can mitigate the impact of the Mother’s Curse. Since mitochondria play an important role in many pathways and cellular processes, they are involved in the pathogenesis of many diseases, and thus, the accumulation of mutations in mtDNA can have a serious impact on health and fitness, especially for males, due to its maternal inheritance. 
  • 785
  • 11 Mar 2024
Topic Review
IL23R Gene
Interleukin 23 receptor
  • 784
  • 23 Dec 2020
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