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Topic Review
Multiminicore Disease
Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.
  • 806
  • 23 Dec 2020
Topic Review
Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare.
  • 806
  • 24 Dec 2020
Topic Review
Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
  • 806
  • 24 Dec 2020
Topic Review
FA2H Gene
Fatty Acid 2-Hydroxylase: The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. 
  • 806
  • 25 Dec 2020
Topic Review
GJB2 Gene
Gap junction protein beta 2
  • 806
  • 25 Dec 2020
Topic Review
Developing Genomic Resources for Crop Improvement
The emerging sequencing technologies target generating more data with fewer inputs and at lower costs. This has also translated to an increase in the number and type of corresponding applications in genomics besides enhanced computational capacities (both hardware and software). Alongside the evolving DNA sequencing landscape, bioinformatics research teams have also evolved to accommodate the increasingly demanding techniques used to combine and interpret data, leading to many researchers moving from the lab to the computer. 
  • 806
  • 07 Nov 2023
Topic Review
Huntington Disease
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
  • 806
  • 23 Dec 2020
Topic Review
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
  • 805
  • 23 Dec 2020
Topic Review
REN Gene
renin
  • 805
  • 23 Dec 2020
Topic Review
BEST1 Gene
bestrophin 1
  • 805
  • 24 Dec 2020
Topic Review
PDP1 Gene
pyruvate dehydrogenase phosphatase catalytic subunit 1
  • 805
  • 25 Dec 2020
Topic Review
DCX Gene
Doublecortin: The DCX gene provides instructions for producing a protein called doublecortin. 
  • 804
  • 23 Dec 2020
Topic Review
Ophthalmo-Acromelic Syndrome
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).
  • 804
  • 24 Dec 2020
Topic Review
Bart-Pumphrey Syndrome
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
  • 804
  • 24 Dec 2020
Topic Review
SFTPC Gene
surfactant protein C
  • 804
  • 24 Dec 2020
Topic Review
PIK3C3 Inhibition
Autophagy promotes resistance to CRC-therapy by specifically promoting GSK-3β/Wnt/β-catenin signaling to promote CSC survival, and 36-077, a PIK3C3/VPS34 inhibitor, helps promote efficacy of CRC therapy.
  • 804
  • 03 Jun 2021
Topic Review
STIM1 Gene
stromal interaction molecule 1: The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). 
  • 803
  • 22 Dec 2020
Topic Review
MYH7 Gene
myosin heavy chain 7
  • 803
  • 23 Dec 2020
Topic Review
XPA Gene
XPA, DNA damage recognition and repair factor: The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals.
  • 803
  • 24 Dec 2020
Topic Review
SHOX Gene
short stature homeobox
  • 803
  • 24 Dec 2020
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