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Topic Review
ABCG2 Gene
ATP binding cassette subfamily G member 2 (Junior blood group)
  • 1.1K
  • 24 Dec 2020
Topic Review
Cold-induced Sweating Syndrome
Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body.
  • 1.1K
  • 24 Dec 2020
Topic Review
Chromosome 18
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Ring Chromosome 20 Syndrome
Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain.
  • 1.1K
  • 24 Dec 2020
Topic Review
SLC5A5 Gene
solute carrier family 5 member 5
  • 1.1K
  • 24 Dec 2020
Topic Review
Brain-Epigenome of One-Carbon-Metabolism in ASD
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Epigenome signature is a promising field in ASD clinical and translational research.
  • 1.1K
  • 26 May 2021
Topic Review
Omenn Syndrome
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency).
  • 1.1K
  • 24 Dec 2020
Topic Review
Mind-Body Intervention and Diabetes
Mind–body intervention (MBI) refers to interventions like meditation, yoga, and qigong, which deal with both physical and mental well-being. MBI not only induces psychological changes, such as alleviation of depression, anxiety, and stress, but also physiological changes like parasympathetic activation, lower cortisol secretion, reduced inflammation, and aging rate delay, which are all risk factors for T2D. Notably, MBI has been reported to reduce blood glucose in patients with T2D.
  • 1.1K
  • 11 Mar 2021
Topic Review
Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
  • 1.1K
  • 23 Dec 2020
Topic Review
WAGR Syndrome
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).
  • 1.1K
  • 23 Dec 2020
Topic Review
Mutations in GHR and IGF1R Genes
The birth size of a newborn child is influenced by a number of factors. The main ones are genetic factors of the fetus and the intrauterine environment. These factors interact with each other, and the effect of this interaction is seen as the birth weight, length, body composition, and organ size. From conception to delivery, the fetus is under the influence of the mother’s organism, which is the environment for the developing organism. The capacity of the uterus corresponds to the mother’s height and it is one of the main determinants of the fetus’s size. In addition, the birth size of the fetus can be influenced by the nutritional status of the mother, which provides nutrients to developing organisms.
  • 1.1K
  • 30 May 2022
Topic Review
Chromosome 8
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.  
  • 1.1K
  • 23 Dec 2020
Topic Review
CDKL5 Gene
cyclin dependent kinase like 5
  • 1.1K
  • 24 Dec 2020
Topic Review
APOE Gene
Apolipoprotein E
  • 1.1K
  • 04 Jan 2021
Topic Review
Knee Osteoarthritis
Being the most common musculoskeletal progressive condition, osteoarthritis is an interesting target for research. It is estimated that the prevalence of knee osteoarthritis (OA) among adults 60 years of age or older is approximately 10% in men and 13% in women, making knee OA one of the leading causes of disability in elderly population. Today, we know that osteoarthritis is not a disease characterized by loss of cartilage due to mechanical loading only, but a condition that affects all of the tissues in the joint, causing detectable changes in tissue architecture, its metabolism and function. All of these changes are mediated by a complex and not yet fully researched interplay of proinflammatory and anti-inflammatory cytokines, chemokines, growth factors and adipokines, all of which can be measured in the serum, synovium and histological samples, potentially serving as biomarkers of disease stage and progression. Another key aspect of disease progression is the epigenome that regulates all the genetic expression through DNA methylation, histone modifications, and mRNA interference. A lot of work has been put into developing non-surgical treatment options to slow down the natural course of osteoarthritis to postpone, or maybe even replace extensive surgeries such as total knee arthroplasty. At the moment, biological treatments such as platelet-rich plasma, bone marrow mesenchymal stem cells and autologous microfragmented adipose tissue containing stromal vascular fraction are ordinarily used. Furthermore, the latter two mentioned cell-based treatment options seem to be the only methods so far that increase the quality of cartilage in osteoarthritis patients. Yet, in the future, gene therapy could potentially become an option for orthopedic patients.
  • 1.1K
  • 26 Oct 2020
Topic Review
Poland Syndrome
Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
  • 1.1K
  • 24 Dec 2020
Topic Review
Epilepsy-aphasia Spectrum
The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia).
  • 1.1K
  • 25 Dec 2020
Topic Review
Romano-Ward Syndrome
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia).
  • 1.1K
  • 27 Jan 2022
Topic Review
FLG Gene
Filaggrin
  • 1.1K
  • 25 Dec 2020
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