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Topic Review
SEPTIN9 Gene
septin 9
  • 848
  • 24 Dec 2020
Topic Review
3-hydroxyacyl-CoA Dehydrogenase Deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).
  • 847
  • 23 Dec 2020
Topic Review
Mycosis Fungoides
Mycosis fungoides is the most common 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. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified.
  • 847
  • 23 Dec 2020
Topic Review
FANCG Gene
FA complementation group G
  • 847
  • 25 Dec 2020
Topic Review
GDF6 Gene
Growth differentiation factor 6
  • 847
  • 25 Dec 2020
Topic Review
PGAP2 Gene
post-GPI attachment to proteins 2
  • 847
  • 25 Dec 2020
Topic Review
RT-qPCR of Aspergillus
Aspergillus is a genus of filamentous fungi with vast geographic and ecological distributions. Species within this genus are clinically, agriculturally and biotechnologically relevant, leading to increasing interest in elucidating gene expression dynamics of key metabolic and physiological processes. Reverse-transcription quantitative Polymerase Chain Reaction (RT-qPCR) is a sensitive and specific method of quantifying gene expression.
  • 847
  • 19 Jul 2021
Topic Review
Epigenetic Biomarkers for Neurodegenerative Disorders
Epigenetics is the study of heritable changes in gene expression that occur without alterations to the DNA sequence, linking the genome to its surroundings. The accumulation of epigenetic alterations over the lifespan may contribute to neurodegeneration.
  • 847
  • 19 Jan 2022
Topic Review
DNA Repair in Human Germ Cells
DNA repair is a well-covered topic as alteration of genetic integrity underlies many pathological conditions and important transgenerational consequences. Maintenance of genome integrity is a permanent cell challenge as both intra- and extracellular conditions can lead to chemical alterations of nucleotides or their sequence. Proper repair mechanisms have evolved so as to maintain a balance between maintenance of cellular function and adaptative processes improving fitness. For obvious reasons, germline cells must be especially proficient at this task as diversity must be transmitted while maintaining the gametes’ integrity through the many differentiation steps.
  • 847
  • 09 Feb 2022
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 846
  • 23 Dec 2020
Topic Review
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).
  • 846
  • 23 Dec 2020
Topic Review
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
  • 846
  • 23 Dec 2020
Topic Review
CAV3 Gene
caveolin 3
  • 846
  • 24 Dec 2020
Topic Review
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
  • 846
  • 24 Dec 2020
Topic Review
GALE Gene
UDP-galactose-4-epimerase
  • 846
  • 25 Dec 2020
Topic Review
Familial Partial Lipodystrophy
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.
  • 846
  • 25 Dec 2020
Topic Review
Glucose Phosphate Isomerase Deficiency
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 845
  • 23 Dec 2020
Topic Review
RNAse T2-Deficient Leukoencephalopathy
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress).
  • 845
  • 04 Apr 2021
Topic Review
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly.
  • 845
  • 25 Dec 2020
Topic Review
PHOX2B Gene
paired like homeobox 2B
  • 845
  • 25 Dec 2020
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