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Topic Review
STIM1 Gene
stromal interaction molecule 1: The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). 
  • 805
  • 22 Dec 2020
Topic Review
TSPYL1 Gene
TSPY-like 1
  • 805
  • 23 Dec 2020
Topic Review
Benign Familial Neonatal Seizures
Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.
  • 805
  • 24 Dec 2020
Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 805
  • 24 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
  • 805
  • 28 Sep 2021
Topic Review
DYNC1H1 Gene
Dynein Cytoplasmic 1 Heavy Chain 1
  • 805
  • 24 Dec 2020
Topic Review
OPA1 Gene
OPA1, mitochondrial dynamin like GTPase
  • 805
  • 24 Dec 2020
Topic Review
STAT1 Gene
Signal transducer and activator of transcription 1: The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida.
  • 804
  • 22 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. 
  • 804
  • 24 Dec 2020
Topic Review
CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).
  • 804
  • 24 Dec 2020
Topic Review
FGFR4 Gene
Fibroblast growth factor receptor 4: The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. 
  • 804
  • 25 Dec 2020
Topic Review
Familial Restrictive Cardiomyopathy
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).
  • 804
  • 25 Dec 2020
Topic Review
Muscular Dystrophies (MD)
Muscular dystrophies (MDs) are genetic disorders caused by mutations in several genes that lead to the lack of or dysfunctional production of proteins that are essential for myofiber integrity and contraction. MDs are a group of diseases that cause, but are not restricted to, progressive muscle destruction and weakness, with nine most common forms: myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and Emery–Dreifuss.
  • 804
  • 22 Nov 2021
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
  • 804
  • 29 Aug 2023
Topic Review
Medullary Cystic Kidney Disease Type1
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys.
  • 803
  • 23 Dec 2020
Topic Review
HADHB Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
  • 803
  • 22 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.  
  • 803
  • 23 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.
  • 803
  • 24 Dec 2020
Topic Review
Early-onset Glaucoma
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.
  • 803
  • 25 Dec 2020
Topic Review
Fragile X-associated Primary Ovarian Insufficiency
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.
  • 803
  • 25 Dec 2020
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