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Topic Review
SALL4 Gene
spalt like transcription factor 4
  • 731
  • 24 Dec 2020
Topic Review
FKBP10 Gene
FKBP prolyl isomerase 10
  • 731
  • 25 Dec 2020
Topic Review
Cytogenetic Abnormalities of Extramedullary Multiple Myeloma
Extramedullary multiple myeloma (or extramedullary disease, EMD) is an aggressive form of multiple myeloma (MM) that occurs when malignant plasma cells become independent of the bone marrow microenvironment. This may occur alongside MM diagnosis or in later stages of relapse and confers an extremely poor prognosis. In the era of novel agents and anti-myeloma therapies, the incidence of EMD is increasing, making this a more prevalent and challenging cohort of patients. Therefore, understanding the underlying mechanisms of bone marrow escape and EMD driver events is increasingly urgent. 
  • 731
  • 11 Jul 2023
Topic Review
MAGT1 Gene
Magnesium transporter 1
  • 731
  • 23 Dec 2020
Topic Review
HLA-DQB1 Gene
Major histocompatibility complex, class II, DQ beta 1
  • 730
  • 22 Dec 2020
Topic Review
LAMA3 Gene
Laminin subunit alpha 3
  • 730
  • 23 Dec 2020
Topic Review
CYP21A2 Gene
Cytochrome P450 Family 21 Subfamily A Member 2
  • 730
  • 23 Dec 2020
Topic Review
MBL2 Gene
Mannose binding lectin 2
  • 730
  • 23 Dec 2020
Topic Review
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.
  • 730
  • 24 Dec 2020
Topic Review
Hereditary Hypophosphatemic Rickets
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
  • 729
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).  
  • 729
  • 23 Dec 2020
Topic Review
CRLF1 Gene
cytokine receptor like factor 1
  • 729
  • 24 Dec 2020
Topic Review
EYA1 Gene
EYA transcriptional coactivator and phosphatase 1
  • 729
  • 24 Dec 2020
Topic Review
ATP2C1 Gene
ATPase secretory pathway Ca2+ transporting 1
  • 729
  • 24 Dec 2020
Topic Review
GLRA1 Gene
Glycine receptor alpha 1
  • 728
  • 23 Dec 2020
Topic Review
Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
  • 728
  • 24 Dec 2020
Topic Review
Polycomb Group Proteins and Cancer
The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
  • 728
  • 11 Nov 2022
Topic Review
COL4A3 Gene
collagen type IV alpha 3 chain
  • 727
  • 24 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 727
  • 24 Dec 2020
Topic Review
Dentatorubral-pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
  • 727
  • 24 Dec 2020
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