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Topic Review
Biography
Peer Reviewed Entry
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Topic Review
Origin of Ugrians
Both genetic and archaeological data indicate the admixture of the Mezhovskaya population with northern forest hunters in the late Bronze Age, which gave rise to a “proto-Ugric” community. This finding is consistent with the linguistic reconstruction of the proto-Ugric language. Genetic data indicate an admixture of proto-Hungarians with early Sarmatians and early Huns, and the first admixture can be reconciled with the formation of the Gorokhovo culture and its integration into the early Sarmatian Prokhorovka culture, while the second admixture corresponds to the transformation of the Sargat and Sarmatian cultures due to Xiongnu invasions.
1.4K
08 Aug 2023
Topic Review
LTBL
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates nerve fibers and promotes the rapid transmission of nerve impulses.
1.4K
04 Jan 2021
Topic Review
Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
1.4K
23 Dec 2020
Topic Review
47,XYY Syndrome
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.
1.4K
23 Dec 2020
Topic Review
Congenital Insensitivity to Pain
Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain.
1.4K
24 Dec 2020
Topic Review
Tumor Suppressor
A tumor suppressor gene, or anti-oncogene, is a gene that regulates a cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function; in combination with other genetic mutations this could allow the cell to grow abnormally. The loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes. Tumor suppressor genes can be grouped into the following categories caretaker genes, gatekeeper genes, and more recently landscaper genes. Caretaker genes ensure stability of the genome via DNA repair and subsequently when mutated allow mutations to accumulate. Meanwhile gatekeeper genes directly regulate cell growth by either inhibiting cell cycle progression or inducing apoptosis. Lastly landscaper genes regulate growth by contributing to the surrounding environment, when mutated can cause an environment that promotes unregulated proliferation. The classification schemes are evolving as medical advances are being made from fields including molecular biology, genetics, and epigenetics.
1.4K
25 Oct 2022
Topic Review
Epigenetic Changes and Stress-Related Disorders
Stress is defined as a state of threatened or perceived as threatened homeostasis. Emerging evidence suggests that life-stress experiences can alter the epigenetic landscape and impact the function of genes involved in the regulation of stress response. More importantly, epigenetic changes induced by stressors persist over time, leading to increased susceptibility for a number of stress-related disorders.
1.4K
12 Jun 2021
Topic Review
Xanthomonas campestris
Xanthomonas campestris pv. campestris (Xcc) is a Gram-negative, aerobic, vascular, and motile bacterium with a single flagellum, which causes the disease identified as black rot in Brassica crops.
1.4K
30 Aug 2021
Topic Review
C-to-U RNA Editing
The restoration of genetic code by editing mutated genes is a potential method for the treatment of genetic diseases/disorders. Genetic disorders are caused by the point mutations of thymine (T) to cytidine (C) or guanosine (G) to adenine (A), for which gene editing (editing of mutated genes) is a promising therapeutic technique. In C-to-Uridine (U) RNA editing, it converts the base C-to-U in RNA molecules and leads to nonsynonymous changes when occurring in coding regions; for G-to-A mutations, A-to-I editing occurs. Editing of C-to-U is not as physiologically common as that of A-to-I editing.
1.3K
30 Sep 2022
Topic Review
Xia-Gibbs Syndrome
Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development.
1.3K
24 Dec 2020
Topic Review
The Genetic Basis of Eye Color
Eye color is a polygenic phenotype, and many genetic variants have been highlighted, with the major contributor being the HERC2-OCA2 locus, where many single nucleotide variations (SNPs) were identified.
1.3K
22 Aug 2023
Topic Review
Prion Protein Gene (PRNP) in Dogs
Transmissible spongiform encephalopathies (TSEs) have been reported in a wide range of species. However, TSE infection in natural cases has never been reported in dogs. Previous studies have reported that polymorphisms of the prion protein gene (PRNP) have a direct impact on the susceptibility of TSE. However, studies on polymorphisms of the canine PRNP gene are very rare in dogs. We examined the genotype, allele, and haplotype frequencies of canine PRNP in 204 dogs and analyzed linkage disequilibrium (LD). In addition, to evaluate the impact of nonsynonymous polymorphisms on prion protein (PrP), we carried out in silico analysis.
1.3K
18 Jun 2020
Topic Review
CRISPR-Cas9 in Fruit and Vegetable
Fruit and vegetable crops are rich in dietary fibre, vitamins and minerals, which are vital to human health. However, many biotic stressors (such as pests and diseases) and abiotic stressors threaten crop growth, quality, and yield. Traditional breeding strategies for improving crop traits include a series of backcrosses and selection to introduce beneficial traits into fine germplasm, this process is slow and resource-intensive. The new breeding technique known as clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein-9 (Cas9) has the potential to improve many traits rapidly and accurately, such as yield, quality, disease resistance, abiotic stress tolerance, and nutritional aspects in crops. Because of its simple operation and high mutation efficiency, this system has been applied to obtain new germplasm resources via gene-directed mutation.
1.3K
04 Aug 2021
Topic Review
CIPA
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.
1.3K
04 Jan 2021
Topic Review
LAMM Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth.
1.3K
04 Jan 2021
Topic Review
Chronic Atrial and Intestinal Dysrhythmia
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system.
1.3K
24 Dec 2020
Topic Review
Rippling Muscle Disease
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable).
1.3K
24 Dec 2020
Topic Review
15q13.3 Microdeletion
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.
1.3K
26 Aug 2021
Topic Review
EDA-ID
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.
1.3K
04 Jan 2021
Topic Review
Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
1.3K
04 Feb 2021
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