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Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 774
  • 24 Dec 2020
Topic Review
ZNF341 Gene
Zinc finger protein 341
  • 774
  • 24 Dec 2020
Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 774
  • 24 Dec 2020
Topic Review
Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 774
  • 24 Dec 2020
Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 774
  • 24 Dec 2020
Topic Review
F5 Gene
Coagulation factor V
  • 774
  • 24 Dec 2020
Topic Review
FOXL2 Gene
Forkhead box L2
  • 774
  • 25 Dec 2020
Topic Review
TPP1 Gene
Tripeptidyl peptidase 1: The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1.
  • 774
  • 25 Dec 2020
Topic Review
KCNJ2 Gene
Potassium voltage-gated channel subfamily J member 2
  • 773
  • 23 Dec 2020
Topic Review
Epigenetic/non-epigenetic mechanisms of HIV control
The persistence of latent HIV provirus pools in different resting CD4+ cell subsets remains the greatest obstacle in the current efforts to treat and cure HIV infection. Recent efforts to purge out latently infected memory CD4+ T-cells using latency-reversing agents have failed in clinical trials. This review discusses the epigenetic and non-epigenetic mechanisms of HIV latency control, major limitations of the current approaches of using latency-reversing agents to reactivate HIV latency in resting CD4+ T-cells, and potential solutions to these limitations.
  • 773
  • 16 Apr 2021
Topic Review
lncRNAs as Clinical Biomarkers in Clinical Practice
Given their tumor-specific and stage-specific gene expression, long non-coding RNAs (lncRNAs) have demonstrated to be potential molecular biomarkers for diagnosis, prognosis, and treatment response. Particularly, the lncRNAs DSCAM-AS1 and GATA3-AS1 serve as examples of this because of their high subtype-specific expression profile in luminal B-like breast cancer. This makes them candidates to use as molecular biomarkers in clinical practice. However, lncRNA studies in breast cancer are limited in sample size and are restricted to the determination of their biological function, which represents an obstacle for its inclusion as molecular biomarkers of clinical utility. Nevertheless, due to their expression specificity among diseases, such as cancer, and their stability in body fluids, lncRNAs are promising molecular biomarkers that could improve the reliability, sensitivity, and specificity of molecular techniques used in clinical diagnosis. The development of lncRNA-based diagnostics will be useful in routine medical practice to improve patient clinical management and quality of life.
  • 773
  • 04 May 2023
Topic Review
Mosaic Variegated Aneuploidy Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
  • 773
  • 23 Dec 2020
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 772
  • 22 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 772
  • 24 Dec 2020
Topic Review
HADHA Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  • 771
  • 22 Dec 2020
Topic Review
Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 771
  • 23 Dec 2020
Topic Review
LRP2 Gene
LDL receptor related protein 2
  • 771
  • 23 Dec 2020
Topic Review
Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 771
  • 24 Dec 2020
Topic Review
TAP2 Gene
Transporter 2, ATP binding cassette subfamily B member: The TAP2 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 771
  • 24 Dec 2020
Topic Review
Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
  • 771
  • 24 Dec 2020
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