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Topic Review
FRAS1 Gene
Fraser extracellular matrix complex subunit 1
  • 803
  • 25 Dec 2020
Topic Review
Neuroplastin in Neuropsychiatric Diseases
Molecular mechanisms underlying neuropsychiatric and neurodegenerative diseases are insufficiently elucidated. A detailed understanding of these mechanisms may help to further improve medical intervention. Recently, intellectual abilities, creativity, and amnesia have been associated with neuroplastin, a cell recognition glycoprotein of the immunoglobulin superfamily that participates in synapse formation and function and calcium signaling. Data from animal models suggest a role for neuroplastin in pathways affected in neuropsychiatric and neurodegenerative diseases. Neuroplastin loss or disruption of molecular pathways related to neuronal processes has been linked to various neurological diseases, including dementia, schizophrenia, and Alzheimer’s disease
  • 803
  • 28 Sep 2021
Topic Review
GLDC Gene
Glycine Decarboxylase
  • 802
  • 23 Dec 2020
Topic Review
MSH6 Gene
mutS homolog 6
  • 802
  • 23 Dec 2020
Topic Review
SYNGAP1 Gene
Synaptic Ras GTPase activating protein 1: The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. 
  • 802
  • 24 Dec 2020
Topic Review
SPINK5 Gene
serine peptidase inhibitor, Kazal type 5
  • 802
  • 24 Dec 2020
Topic Review
Hyperlysinemia
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins.
  • 801
  • 23 Dec 2020
Topic Review
Isolated Ectopia Lentis
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
  • 801
  • 23 Dec 2020
Topic Review
HCFC1 Gene
Host cell factor C1
  • 800
  • 22 Dec 2020
Topic Review
Inherited Thyroxine-Binding Globulin Deficiency
Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck.
  • 800
  • 23 Dec 2020
Topic Review
TCN2 Gene
Transcobalamin 2: The TCN2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II).
  • 800
  • 24 Dec 2020
Topic Review
Autosomal Recessive Hypotrichosis
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
  • 800
  • 24 Dec 2020
Topic Review
Congenital Hepatic Fibrosis
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated.
  • 800
  • 24 Dec 2020
Topic Review
SLC26A4 Gene
solute carrier family 26 member 4
  • 800
  • 05 Apr 2021
Topic Review
Familial Hemophagocytic Lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.
  • 800
  • 25 Dec 2020
Topic Review
Systemic Mastocytosis
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.  
  • 799
  • 23 Dec 2020
Topic Review
Generalized Pustular Psoriasis
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis.
  • 799
  • 23 Dec 2020
Topic Review
TBC1D24 Gene
TBC1 domain family member 24: The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear.
  • 799
  • 24 Dec 2020
Topic Review
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.
  • 799
  • 25 Dec 2020
Topic Review
Human Exome Sequencing and Prospects for Predictive Medicine
Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This research establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening
  • 799
  • 29 Aug 2023
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