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Topic Review
THPO Gene
Thrombopoietin: The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. 
  • 872
  • 25 Dec 2020
Topic Review
SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy.
  • 871
  • 23 Dec 2020
Topic Review
Hirschsprung Disease
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.
  • 871
  • 23 Dec 2020
Topic Review
X-linked Dystonia-parkinsonism
X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women.  
  • 871
  • 24 Dec 2020
Topic Review
AIP Gene
aryl hydrocarbon receptor interacting protein
  • 871
  • 24 Dec 2020
Topic Review
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
  • 870
  • 24 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 870
  • 24 Dec 2020
Topic Review
EXT2 Gene
exostosin glycosyltransferase 2
  • 870
  • 24 Dec 2020
Topic Review
POMT1 Gene
protein O-mannosyltransferase 1
  • 870
  • 25 Dec 2020
Topic Review
TREM2 Gene
Triggering receptor expressed on myeloid cells 2: The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2.
  • 870
  • 25 Dec 2020
Topic Review
DNA Repair in Human Germ Cells
DNA repair is a well-covered topic as alteration of genetic integrity underlies many pathological conditions and important transgenerational consequences. Maintenance of genome integrity is a permanent cell challenge as both intra- and extracellular conditions can lead to chemical alterations of nucleotides or their sequence. Proper repair mechanisms have evolved so as to maintain a balance between maintenance of cellular function and adaptative processes improving fitness. For obvious reasons, germline cells must be especially proficient at this task as diversity must be transmitted while maintaining the gametes’ integrity through the many differentiation steps.
  • 870
  • 09 Feb 2022
Topic Review
Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.
  • 870
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 870
  • 23 Dec 2020
Topic Review
LBR Gene
Lamin B receptor
  • 869
  • 23 Dec 2020
Topic Review
CACNA1A Gene
calcium voltage-gated channel subunit alpha1 A
  • 869
  • 24 Dec 2020
Topic Review
DCN Gene
Decorin
  • 869
  • 25 Dec 2020
Topic Review
PLA2G6 Gene
phospholipase A2 group VI
  • 869
  • 25 Dec 2020
Topic Review
GM2-Gangliosidosis, AB Variant
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 868
  • 23 Dec 2020
Topic Review
Mycosis Fungoides
Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified.
  • 868
  • 23 Dec 2020
Topic Review
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.
  • 868
  • 23 Dec 2020
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