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Topic Review
Prothrombin Thrombophilia
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels.
  • 793
  • 24 Dec 2020
Topic Review
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
  • 793
  • 24 Dec 2020
Topic Review
F13B Gene
Coagulation factor XIII B chain
  • 793
  • 24 Dec 2020
Topic Review
Nephronophthisis
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
  • 793
  • 23 Dec 2020
Topic Review
African Iron Overload
African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet.
  • 793
  • 24 Dec 2020
Topic Review
FAT4 Gene
FAT atypical cadherin 4
  • 792
  • 25 Dec 2020
Topic Review
TFR2 Gene
Transferrin receptor 2: The TFR2 gene provides instructions for making a protein called transferrin receptor 2. 
  • 792
  • 25 Dec 2020
Topic Review
CRISPR/Cas9 as a Mutagenic Factor
The discovery of the CRISPR/Cas9 microbial adaptive immune system has revolutionized the field of genetics, by greatly enhancing the capacity for genome editing. CRISPR/Cas9-based editing starts with DNA breaks (or other lesions) predominantly at target sites and, unfortunately, at off-target genome sites. DNA repair systems differing in accuracy participate in establishing desired genetic changes but also introduce unwanted mutations, that may lead to hereditary, oncological, and other diseases. New approaches to alleviate the risks associated with genome editing include attenuating the off-target activity of editing complex through the use of modified forms of Cas9 nuclease and single guide RNA (sgRNA), improving delivery methods for sgRNA/Cas9 complex, and directing DNA lesions caused by the sgRNA/Cas9 to non-mutagenic repair pathways.
  • 792
  • 26 Jan 2024
Topic Review
Caudal Regression Syndrome
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
  • 791
  • 24 Dec 2020
Topic Review
CLRN1 Gene
clarin 1
  • 791
  • 24 Dec 2020
Topic Review
SMN2 Gene
survival of motor neuron 2, centromeric
  • 791
  • 24 Dec 2020
Topic Review
MMADHC Gene
metabolism of cobalamin associated D
  • 791
  • 22 Dec 2020
Topic Review
PROK2 Gene
prokineticin 2
  • 790
  • 22 Dec 2020
Topic Review
MT-ND1 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
  • 790
  • 23 Dec 2020
Topic Review
RASA1 Gene
RAS p21 protein activator 1
  • 790
  • 23 Dec 2020
Topic Review
FZD2 Gene
Frizzled class receptor 2
  • 790
  • 25 Dec 2020
Topic Review
BUB1B Gene
BUB1 mitotic checkpoint serine/threonine kinase B
  • 789
  • 24 Dec 2020
Topic Review
Klippel-Feil Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).
  • 789
  • 23 Dec 2020
Topic Review
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia).
  • 788
  • 24 Dec 2020
Topic Review
Phosphoglycerate Kinase Deficiency
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition.
  • 788
  • 24 Dec 2020
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