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Topic Review
NOG Gene
noggin
  • 987
  • 24 Dec 2020
Topic Review
TUBB4A-related Leukodystrophy
TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination.  
  • 986
  • 23 Dec 2020
Topic Review
Task-specific Focal Dystonia
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.  
  • 986
  • 23 Dec 2020
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 986
  • 24 Dec 2020
Topic Review
Cole Disease
Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life.
  • 986
  • 24 Dec 2020
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 986
  • 24 Dec 2020
Topic Review
Familial Candidiasis
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
  • 985
  • 25 Dec 2020
Topic Review
PLCG2 Gene
phospholipase C gamma 2
  • 985
  • 25 Dec 2020
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 984
  • 23 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 984
  • 24 Dec 2020
Topic Review
Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose.
  • 984
  • 24 Dec 2020
Topic Review
Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process.
  • 983
  • 23 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 983
  • 24 Dec 2020
Topic Review
OPRM1 Gene
opioid receptor mu 1
  • 983
  • 24 Dec 2020
Topic Review
TSC2 Gene
TSC complex subunit 2
  • 983
  • 25 Dec 2020
Topic Review
Epigenetic Modifications in Plant Development and Reproduction
Plants are exposed to highly fluctuating effects of light, temperature, weather conditions, and many other environmental factors throughout their life. As sessile organisms, unlike animals, they are unable to escape, hide, or even change their position. Therefore, the growth and development of plants are largely determined by interaction with the external environment. The success of this interaction depends on the ability of the phenotype plasticity, which is largely determined by epigenetic regulation. In addition to how environmental factors can change the patterns of genes expression, epigenetic regulation determines how genetic expression changes during the differentiation of one cell type into another and how patterns of gene expression are passed from one cell to its descendants. Thus, one genome can generate many ‘epigenomes’. Epigenetic modifications acquire special significance during the formation of gametes and plant reproduction when epigenetic marks are eliminated during meiosis and early embryogenesis and later reappear. However, during asexual plant reproduction, when meiosis is absent or suspended, epigenetic modifications that have arisen in the parental sporophyte can be transmitted to the next clonal generation practically unchanged. In plants that reproduce sexually and asexually, epigenetic variability has different adaptive significance.
  • 983
  • 22 Dec 2021
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 982
  • 23 Dec 2020
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
  • 982
  • 23 Dec 2020
Topic Review
ATP7B Gene
ATPase copper transporting beta
  • 982
  • 24 Dec 2020
Topic Review
Epigenetics in Congenital Heart Disease
Congenital heart disease (CHD) is the most common birth defect among newborns worldwide and contributes to significant infant morbidity and mortality. Owing to major advances in medical and surgical management, as well as improved prenatal diagnosis, the outcomes for these children with CHD have improved tremendously so much so that there are now more adults living with CHD than children. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. 
  • 982
  • 26 Apr 2021
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