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Topic Review
SATB2-Associated Syndrome
SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems.
  • 1.0K
  • 24 Dec 2020
Topic Review
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males.
  • 1.0K
  • 25 Dec 2020
Topic Review
PHGDH Gene
phosphoglycerate dehydrogenase
  • 1.0K
  • 25 Dec 2020
Topic Review
PHKA2 Gene
phosphorylase kinase regulatory subunit alpha 2
  • 1.0K
  • 25 Dec 2020
Topic Review
Branchio-Oculo-Facial Syndrome
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
  • 1.0K
  • 24 Dec 2020
Topic Review
Rotor Syndrome
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia).
  • 1.0K
  • 19 Apr 2021
Topic Review
Zellweger Spectrum Disorder
Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
GFM1 Gene
G elongation factor mitochondrial 1
  • 1.0K
  • 25 Dec 2020
Topic Review
Congenital Metabolic Bone Disorders's Fragility
Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. 
  • 1.0K
  • 09 Oct 2021
Topic Review
DCas9 Activation System
CRISPR activation (CRISPRa) is one type of CRISPR tool that use modified versions of dCas9, a mutation of Cas9 without endonuclease activity, with added transcriptional activators on dCas9 or the guide RNAs (gRNAs). Like a standard CRISPR-Cas9 system, dCas9 activation systems rely on similar components such as Cas9 variants for modulation or modification of genes, gRNAs to guide Cas9 to intended targets, and vectors for introduction into cells. However, while a standard CRISPR-Cas9 system relies on creating breaks in DNA through the endonuclease activity of Cas9 and then manipulating DNA Repair mechanisms for gene editing, dCas9 activation systems are modified and employ transcriptional activators to increase expression of genes of interest. Such systems are usable for many purposes including but not limited to, genetic screens and overexpression of proteins of interest.
  • 1.0K
  • 12 Oct 2022
Topic Review
Meckel Syndrome
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body.
  • 1.0K
  • 23 Dec 2020
Topic Review
Kabuki Syndrome
Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
  • 1.0K
  • 23 Dec 2020
Topic Review
Liebenberg Syndrome
Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity.
  • 1.0K
  • 24 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 2
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.  
  • 1.0K
  • 24 Dec 2020
Topic Review
Fraser Syndrome
Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.
  • 1.0K
  • 25 Dec 2020
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
Immune Gene Rearrangements
The tremendous diversity of the human immune repertoire, fundamental for the defense against highly heterogeneous pathogens, is based on the ingenious mechanism of immune gene rearrangements. Rearranged immune genes encoding the immunoglobulins and T-cell receptors and thus determining each lymphocyte’s antigen specificity are very valuable molecular markers for tracing malignant or physiological lymphocytes. One of their most significant applications is tracking residual leukemic cells in patients with lymphoid malignancies. This so called ‘minimal residual disease’ (MRD) has been shown to be the most important prognostic factor across various leukemia subtypes and has therefore been given enormous attention. 
  • 1.0K
  • 12 Jul 2021
Topic Review
Ankyrin-B syndrome
Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
CCFDN
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
  • 1.0K
  • 04 Jan 2021
Topic Review
KCNA1 Gene
Potassium voltage-gated channel subfamily A member 1
  • 1.0K
  • 23 Dec 2020
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