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Topic Review
SLURP1 Gene
secreted LY6/PLAUR domain containing 1
  • 744
  • 24 Dec 2020
Topic Review
RUNX1 Gene
runt related transcription factor 1
  • 743
  • 24 Dec 2020
Topic Review
DNMT3A Overgrowth Syndrome
DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.
  • 743
  • 24 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 743
  • 24 Dec 2020
Topic Review
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
  • 743
  • 24 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).  
  • 742
  • 23 Dec 2020
Topic Review
DCTN1 Gene
Dynactin Subunit 1: The DCTN1 gene provides instructions for making a protein called dynactin-1. 
  • 742
  • 23 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 742
  • 24 Dec 2020
Topic Review
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 742
  • 24 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 742
  • 24 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 742
  • 24 Dec 2020
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 741
  • 22 Dec 2020
Topic Review
CYP24A1 Gene
Cytochrome P450 Family 24 Subfamily A Member 1
  • 741
  • 23 Dec 2020
Topic Review
FOXC1 Gene
Forkhead box C1
  • 741
  • 25 Dec 2020
Topic Review
Non-Canonical RNAi in Mucorales Virulence
Mortality rates of mucormycosis can reach up to 90%, due to the mucoralean antifungal drug resistance and the lack of effective therapies. Non-canonical RNAi pathway (NCRIP) regulates the expression of mRNAs by degrading them in a specific manner. Its mechanism binds dsRNA but only cuts ssRNA. NCRIP exhibits a diversity of functional roles. It represses the epimutational pathway and the lack of NCRIP increases the generation of drug resistant strains. NCRIP also regulates the control of retrotransposons expression, playing an essential role in genome stability. 
  • 741
  • 29 Jun 2021
Topic Review
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 740
  • 23 Dec 2020
Topic Review
Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system.
  • 740
  • 24 Dec 2020
Topic Review
GLUT1 Deficiency Syndrome
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.
  • 739
  • 23 Dec 2020
Topic Review
RAD21 Gene
RAD21 cohesin complex component
  • 738
  • 23 Dec 2020
Topic Review
FOXN1 Gene
Forkhead box N1
  • 738
  • 25 Dec 2020
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