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Topic Review
Alpha Thalassemia
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
  • 969
  • 24 Dec 2020
Topic Review
Essential Tremor
Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems.
  • 969
  • 25 Dec 2020
Topic Review
PIK3R1 Gene
phosphoinositide-3-kinase regulatory subunit 1
  • 969
  • 25 Dec 2020
Topic Review
PNPLA6 Gene
patatin like phospholipase domain containing 6
  • 969
  • 25 Dec 2020
Topic Review
TOR1A Gene
Torsin family 1 member A: The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. 
  • 969
  • 25 Dec 2020
Topic Review
GCDH Gene
Glutaryl-CoA dehydrogenase
  • 969
  • 25 Dec 2020
Topic Review
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
  • 968
  • 24 Dec 2020
Topic Review
Periventricular Heterotopia
Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy.
  • 968
  • 24 Dec 2020
Topic Review
New Gene Origination in a Special Fish Lineage
Origin of new genes are of inherent interest of evolutionary geneticists for decades, but few studies have addressed general pattern of origin of new genes in a fish lineage. Flatfishes evolved one of the most specialized and asymmetric body plans in vertebrates. Providing recent released whole genome data that well represent ingroup and outgroup species, 1541 flatfish-lineage-specific genes were identified with the synteny-based pipeline. The origination pattern of these flatfish new genes is largely similar to those observed in other vertebrates, and they were mainly originated through DNA-mediated duplication, with some RNA-mediated duplication (retrogenes) or de novo genes.
  • 968
  • 25 Nov 2021
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 968
  • 23 Dec 2020
Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 968
  • 24 Dec 2020
Topic Review
Channelopathy Genes in Pulmonary Arterial Hypertension
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Roles for rare variants in three channelopathy genes—ABCC8, ATP13A3, and KCNK3—have been validated in multiple PAH cohorts, and in aggregate explain ~2.7% of PAH cases. Complete or partial loss of function has been demonstrated for PAH-associated variants in ABCC8 and KCNK3. Channels can be excellent targets for drugs, and knowledge of mechanisms for channel mutations may provide an opportunity for the development of PAH biomarkers and novel therapeutics for patients with hereditary PAH but also potentially more broadly for all patients with PAH.
  • 968
  • 28 Feb 2022
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 967
  • 23 Dec 2020
Topic Review
TSHR Gene
thyroid stimulating hormone receptor
  • 967
  • 23 Dec 2020
Topic Review
Hartnup Disease
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
  • 967
  • 23 Dec 2020
Topic Review
Aromatic l-amino Acid Decarboxylase Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.
  • 967
  • 24 Dec 2020
Topic Review
RPE65
RPE65, retinoid isomerohydrolase
  • 967
  • 24 Dec 2020
Topic Review
MT-TS1 Gene
mitochondrially encoded tRNA serine 1 (UCN)
  • 966
  • 23 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 966
  • 24 Dec 2020
Topic Review
PNPLA3 Gene
patatin like phospholipase domain containing 3
  • 966
  • 25 Dec 2020
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