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Topic Review
CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).
  • 1.1K
  • 04 Jan 2021
Topic Review
Fragile XE Syndrome
Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally.
  • 1.1K
  • 25 Dec 2020
Topic Review
Intervertebral Disc Disease
Intervertebral disc disease is a common condition characterized by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebrae), causing pain in the back or neck and frequently in the legs and arms. The intervertebral discs provide cushioning between vertebrae and absorb pressure put on the spine.
  • 1.1K
  • 31 Dec 2020
Topic Review
Succinate-CoA Ligase Deficiency
Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems.
  • 1.1K
  • 23 Dec 2020
Topic Review
Alcohol Use Disorder
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.
  • 1.1K
  • 24 Dec 2020
Topic Review
ARAN-NM
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
  • 1.1K
  • 04 Jan 2021
Topic Review Video
Crosstalk between Apoptosis and Autophagy
Research in biomedical sciences has changed dramatically over the past fifty years. There is no doubt that the discovery of apoptosis and autophagy as two highly synchronized and regulated mechanisms in cellular homeostasis are among the most important discoveries in these decades. Along with the advancement in molecular biology, identifying the genetic players in apoptosis and autophagy has shed light on our understanding of their function in physiological and pathological conditions. Apoptosis and autophagy play essential roles in human health, and their malfunction leads to many diseases, including cancer, neurodegenerative disease, and autoimmune disorders. These mechanisms are highly regulated, and there is complex crosstalk between them.
  • 1.1K
  • 29 Mar 2022
Topic Review
16p11.2 deletion syndrome
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.  
  • 1.1K
  • 10 Apr 2021
Topic Review
Pierre Robin Complex
The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented.
  • 1.1K
  • 27 Jan 2021
Topic Review
Genomic Variation and Mutational Events
Phytopathologists are actively researching the molecular basis of plant–pathogen interactions. The mechanisms of responses to pathogens have been studied extensively in model crop plant species and natural populations. Today, with the rapid expansion of genomic technologies such as DNA sequencing, transcriptomics, proteomics, and metabolomics, as well as the development of new methods and protocols, data analysis, and bioinformatics, it is now possible to assess the role of genetic variation in plant–microbe interactions and to understand the underlying molecular mechanisms of plant defense and microbe pathogenicity with ever-greater resolution and accuracy. Genetic variation is an important force in evolution that enables organisms to survive in stressful environments. Moreover, understanding the role of genetic variation and mutational events is essential for crop breeders to produce improved cultivars.
  • 1.1K
  • 24 Mar 2022
Topic Review
SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
  • 1.1K
  • 24 Dec 2020
Topic Review
GRIN2B-Related Neurodevelopmental Disorder
GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system.
  • 1.1K
  • 23 Dec 2020
Topic Review
Recombinant 8 Syndrome
Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.
  • 1.1K
  • 24 Dec 2020
Topic Review
POFUT1 Gene
protein O-fucosyltransferase 1
  • 1.1K
  • 25 Dec 2020
Topic Review
Clopidogrel Resistance
Clopidogrel resistance is a condition in which the drug clopidogrel is less effective than normal in people who are treated with it. Clopidogrel (also known as Plavix) is an antiplatelet drug, which means that it prevents blood cells called platelets from sticking together (aggregating) and forming blood clots. This drug is typically given to prevent blood clot formation in individuals with a history of stroke; heart attack; a blood clot in the deep veins of the arms or legs (deep vein thrombosis); or plaque buildup (atherosclerosis) in the blood vessels leading from the heart, which are opened by placement of a small thin tube (stent).
  • 1.1K
  • 31 Dec 2020
Topic Review
SELENON Gene
selenoprotein N
  • 1.1K
  • 24 Dec 2020
Topic Review
ACE Gene
angiotensin I converting enzyme
  • 1.1K
  • 04 Feb 2021
Topic Review
7q11.23 Duplication Syndrome
7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Fryns Syndrome
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.
  • 1.1K
  • 25 Dec 2020
Topic Review
CBAS2
Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.
  • 1.1K
  • 04 Jan 2021
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