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Topic Review
Increased Crop Genetic Diversity in the Fields
Crop genetic diversity is the most important factor for a long-term sustainable production system. Breeding and production strategies for developing and growing uniform and homogenous varieties have created many problems. Such populations are static and very sensitive to unpredictable stresses.
  • 1.1K
  • 09 May 2023
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 1.1K
  • 23 Dec 2020
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
Retinitis Pigmentosa
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 1.1K
  • 04 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
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 1.1K
  • 23 Dec 2020
Topic Review
MT-ND6 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
  • 1.1K
  • 23 Dec 2020
Topic Review
Dehydrin Genes in Model Brachypodium Grasses
Dehydration proteins (dehydrins, DHNs) confer tolerance to water-stress deficit in plants. We performed a comparative genomics and evolutionary study of DHN genes in four model Brachypodium grass species. Ten dehydrins have been describe within Brachypodium species. Due to limited knowledge on dehydrin expression under water deprivation stress in Brachypodium, we also performed a drought-induced gene expression analysis in 32 ecotypes of the genus’ flagship species B. distachyon showing different hydric requirements. Bdhn1 - Bdhn2, Bdhn3 and Bdhn7 genes, orthologs of wheat, barley, rice, sorghum, and maize genes, were more highly expressed in plants under drought conditions.
  • 1.1K
  • 13 Dec 2021
Topic Review
FGA Gene
Fibrinogen alpha chain
  • 1.1K
  • 25 Dec 2020
Topic Review
LDLR Gene
Low density lipoprotein receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Non-alcoholic Fatty Liver Disease
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.
  • 1.1K
  • 04 Jan 2021
Topic Review
Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
  • 1.1K
  • 23 Dec 2020
Topic Review
Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
  • 1.1K
  • 24 Dec 2020
Topic Review
European Mink Mustela lutreola L.,1761
European mink Mustela lutreola L., 1761 is considered one of the most endangered mammalian species in the world, due to its ongoing population depletion, both in terms of the actual number of individuals and area occupied. The species was originally spread over most of continental Europe, but nowadays only three wild, isolated, declining populations occupying less than 3% of the former range survive with only about 5000 individuals are estimated persisted in the wild. The alarming situation of the species is proven by its categorization as critically endangered (CR) by the International Union for Conservation of Nature (IUCN) Red List of Threatened Species, and it is listed in Annex II to the Bern Convention on the Conservation of European Wildlife and Natural Habitats, Annexes II and IV (priority species) of the Council Directive 92/43/EEC on the conservation of natural habitats and of wild fauna and flora, and in The Carpathian List of Endangered Species (critically endangered species (CR)). Despite this, studies in the field of genetics of M. lutreola are limited and urgently need to be completed, especially in the context of the progressing extinction process and the disappearance of its numerous populations in France, Belarus, and Russia, among others. The rapidly shrinking and vanishing genetic resources will largely never be studied and described, which is an irreversible loss from cognitive and practical points of view. The meagre data on interpopulation genetic diversity may significantly impair the efficacy of the implemented activities for restitution of the European mink, especially in the context of conservation breeding and species reintroduction. Notably, only (conservation) genetics can provide tools to rescue species affected by the extinction vortex, which, in turn, requires more research initiatives in the conservation genetics of the European mink.
  • 1.1K
  • 20 Nov 2020
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
Usher Syndrome
Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 15
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Progressive Familial Heart Block
Progressive familial heart block is a genetic condition that alters the normal beating of the heart.
  • 1.1K
  • 24 Dec 2020
Topic Review
Adenylosuccinate Lyase
Adenylosuccinate Lyase (ADSL) is a homotetrameric enzyme exhibiting a dual catalytic role: the conversion of succinylaminoimidazolecarboxamide (SAICA)-ribotide (SAICAR) into AICA-ribotide (AICAR) (de novo purine synthesis pathway) and the formation of AMP from adenylosuccinate in the purine nucleotide cycle. ADSL deficiency is a rare autosomal recessive disorder, first described by Jaeken and Van den Berghe, caused by more than 150 different mutations (most of which missense), in the ADSL gene. In all cases, the mutations lead to an ADSL enzyme that retains some residual activity, possibly because a complete loss of activity is probably lethal in humans. The clinical presentation includes neurologic symptoms, namely intellectual disability, autism spectrum disorder, microcephaly, and seizures. Three different phenotypes have been reported on the basis of the age of onset and the severity of symptoms: the fatal neonatal form, presenting with hypokinesia, intractable seizures, and respiratory failure; the type I form presenting within the first months of life, characterized by severe psychomotor retardation, microcephaly, seizures, and autistic features; and the type II form, presenting within the first years of life, with moderate or slight psychomotor retardation]. Life expectation in ADSL deficiency is variable. The neonatal form may lead to early death, whereas onset in early childhood usually results in a stable course.
  • 1.1K
  • 18 Jul 2023
Topic Review
X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.  
  • 1.1K
  • 24 Dec 2020
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