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Topic Review
CBAVD
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. 
  • 1.2K
  • 04 Jan 2021
Topic Review
AML with Myelodysplasia-Related Changes
Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) is a distinct biologic subtype of AML that represents 25–34% of all AML diagnoses and associates with especially inferior outcomes compared to non-MRC AML. Typically, patients with AML-MRC experience low remission rates following intensive chemotherapy and a median overall survival of merely 9–12 months. In light of these discouraging outcomes, it has become evident that more effective therapies are needed for patients with AML-MRC. Liposomal daunorubicin–cytarabine (CPX-351) was approved in 2017 for adults with newly diagnosed AML-MRC and those with therapy-related AML (t-AML), and remains the only therapy specifically approved for this patient population.
  • 1.2K
  • 26 Oct 2020
Topic Review
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Lujan Syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
  • 1.2K
  • 24 Dec 2020
Topic Review
TTR Gene
Transthyretin
  • 1.2K
  • 04 Jan 2021
Topic Review
Apomixis Sensu Stricto
Apomixis may now be regarded as a consequence of sexual failure (i.e., loss-of-function) rather than as a recipe for clonal success (i.e., gain-of-function). There is increasing evidence that apomixis is a modification of the normal sexual developmental pathway. Most of the events that characterize sexual reproduction may be retained both structurally and functionally in apomictic reproduction, with the exceptions that the reduced egg cell is replaced by an unreduced egg cell, with absent or modified meiosis (i.e., apomeiosis), and the seed development does occur without egg cell fertilization (i.e., parthenogenesis). In addition, it is clear that residual sexual function is retained in pseudogamous apomixis, as seed development may occur without fertilization of either the egg cell or the central cell (i.e., autonomous apomixis), but fertilization may be required to form the endosperm in many apomictic plants.
  • 1.2K
  • 26 Oct 2020
Topic Review
CircRNAs
Circular RNAs (circRNAs) are a class of non-coding RNAs that form a covalently closed loop.
  • 1.2K
  • 02 Feb 2021
Topic Review
GH1 Gene
Growth hormone 1
  • 1.2K
  • 25 Dec 2020
Topic Review
Werner Syndrome
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging.
  • 1.2K
  • 23 Dec 2020
Topic Review
PTCH1 Gene
patched 1
  • 1.2K
  • 23 Dec 2020
Topic Review
ADA Gene
Adenosine deaminase
  • 1.2K
  • 04 Jan 2021
Topic Review
Stickler syndrome
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Warfarin Resistance
Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming.
  • 1.2K
  • 23 Dec 2020
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
  • 1.2K
  • 24 Dec 2020
Topic Review
Chromosome 16
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Marker-Assisted Selection in Breeding for Fruit Trait Improvement
Fruit species breeding takes a lot of effort and time. Trees are probably the worst species to work with in terms of genetics and breeding, with very few exceptions. Large trees, protracted juvenile phases, intensive farming methods, and, despite vegetatively propagation, environmental variability play a significant role in the heritability assessments of each individual important trait. Fruit breeders frequently focus on traits specific to each species, including size, weight, sugar and acid content, ripening time, fruit storability, and post-harvest procedures. Tens of thousands of fruit genomes could be mined for sequence variants that could serve as molecular markers thanks to the availability of powerful software tools and updated sequencing techniques.
  • 1.2K
  • 05 Jun 2023
Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
  • 1.2K
  • 23 Dec 2020
Topic Review
OCA2 Gene
OCA2 melanosomal transmembrane protein
  • 1.2K
  • 24 Dec 2020
Topic Review
Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
  • 1.2K
  • 24 Dec 2020
Topic Review
FFEVF
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families.
  • 1.2K
  • 04 Jan 2021
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