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Topic Review
NRF2
Nuclear factor erythroid 2‐related factor 2 (NRF2) is a transcription factor that regulates the cellular defense against toxic and oxidative insults through the expression of genes involved in oxidative stress response and drug detoxification. NRF2 activation renders cells resistant to chemical carcinogens and inflammatory challenges. In addition to antioxidant responses, NRF2 is involved in other cellular processes, including metabolism and inflammation, and its functions are beyond the originally envisioned. NRF2 activity is tightly regulated through a complex transcriptional and post-translational network that enables it to orchestrate the cell’s response and adaptation to various pathological stressors for the homeostasis maintenance. Elevated or decreased NRF2 activity by pharmacological and genetic manipulations of NRF2 activation is associated with many metabolism- or inflammation-related diseases. Emerging evidence shows that NRF2 lies at the center of a complex regulatory network and establishes NRF2 as a truly pleiotropic transcription factor. Here we summarize the complex regulatory network of NRF2 activity and its roles in metabolic reprogramming, unfolded protein response, proteostatsis, autophagy, mitochondrial biogenesis, inflammation, and immunity.
  • 4.1K
  • 17 Jul 2020
Topic Review
Depression
Depression (also known as major depression or major depressive disorder) is a psychiatric disorder that affects mood, behavior, and overall health. It causes prolonged feelings of sadness, emptiness, or hopelessness, and a loss of interest in activities that were once enjoyed. People with depression may also have changes in appetite (leading to overeating or not eating enough), changes in sleeping patterns (sleeping too much or not being able to sleep), loss of energy, and difficulty concentrating. Although depression is considered primarily a mental health disorder, it can also have physical features including headaches, other unexplained aches and pains, unusually slow or fast movements, and digestive problems. To be diagnosed with depression, an individual must have signs and symptoms nearly every day for at least 2 weeks. However, the features of this condition vary widely.
  • 4.0K
  • 31 Dec 2020
Topic Review
3p Deletion Syndrome
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.
  • 3.6K
  • 23 Dec 2020
Topic Review
Sonic Hedgehog
Sonic hedgehog is a protein encoded for by the SHH gene. The protein is named after the character Sonic the Hedgehog. This signaling molecule is key in regulating embryonic morphogenesis in all different types of animals. SHH controls organogenesis and the organization of the central nervous system, limbs, digits and many other parts of the body. Sonic hedgehog is a morphogen that patterns the developing embryo using a concentration gradient characterized by the French Flag model. This model has a non-uniform distribution of SHH molecules which governs different cell fates according to concentration. Mutations in this gene can cause holoprosencephaly, a failure of splitting in the cerebral hemispheres, as demonstrated in an experiment using SHH knock-out mice in which the forebrain midline failed to develop and instead only a single fused telencephalic vesicle resulted. Sonic hedgehog still plays a role in differentiation, proliferation, and maintenance of adult tissues. Abnormal activation of SHH signaling in adult tissues has been implicated in various types of cancers including breast, skin, brain, liver, gallbladder and many more.
  • 3.6K
  • 21 Nov 2022
Topic Review
LncRNA Mechanisms of Action
Long non-coding (lnc)RNAs have emerged as critical regulators of gene expression and are involved in almost every cellular process. They can bind to other molecules including DNA, proteins, or even other RNA types such messenger RNA or small RNAs. LncRNAs are typically expressed at much lower levels than mRNA, and their expression is often restricted to tissue- or time-specific developmental stages. They are also involved in several inter-species interactions, including vector–host–pathogen interactions, where they can be either vector/host-derived or encoded by pathogens. In these interactions, they function via multiple mechanisms including regulating pathogen growth and replication or via cell-autonomous antimicrobial defense mechanisms. Recent advances suggest that characterizing lncRNAs and their targets in different species may hold the key to understanding the role of this class of non-coding RNA in interspecies crosstalk. 
  • 3.5K
  • 07 Feb 2021
Topic Review
IBMPFD
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.
  • 3.5K
  • 04 Jan 2021
Topic Review
Swyer Syndrome
Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.  
  • 3.4K
  • 23 Dec 2020
Topic Review
Myostatin Gene Polymorphisms with Strength Phenotype of Athletes
Polymorphism (rs1805086), c.458A>G, p.Lys(K)153Arg(R), (K153R) of the myostatin gene (MSTN) has been associated with a skeletal muscle phenotype (hypertrophic response in muscles due to strength training). The K153R polymorphism is significant in the development of muscle mass and strength. The rare R variant increases the inhibition of MSTN synthesis, thereby leading to an increase in skeletal muscle mass and muscle strength. The R variant is favorable for sports in which muscle strength and mass are important, such as bodybuilding, powerlifting, weightlifting, arm wrestling, kettlebell lifting, shot put, and bobsleigh. It can be assumed that the strong effect of this allele on the ability to become a successful athlete in weightlifting and speed-power sports is based on the inhibition of MSTN synthesis. 
  • 3.4K
  • 01 Feb 2023
Topic Review
Mitogen-Activated Protein Kinase Signaling Pathway
The basic composition of the mitogen-activated protein kinase (MAPK) pathway is divided into three modules in sequence, with a cascade effect: MAPK kinase kinase (MAPKKK), MAPK kinase (MAPKK), and MAPK. The MAPK signaling pathway is activated in over 50% of human oral cancer cases.
  • 3.3K
  • 11 Oct 2022
Topic Review
Beta-Catenin
Catenin beta-1, also known as β-catenin, is a protein that in humans is encoded by the CTNNB1 gene. β-catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the CTNNB1 gene. In Drosophila, the homologous protein is called armadillo. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to γ-catenin, also known as plakoglobin. Beta-catenin is widely expressed in many tissues. In cardiac muscle, beta-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocytes. Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal carcinoma, lung cancer, malignant breast tumors, ovarian and endometrial cancer. Alterations in the localization and expression levels of beta-catenin have been associated with various forms of heart disease, including dilated cardiomyopathy. β-catenin is regulated and destroyed by the beta-catenin destruction complex, and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore, genetic mutation of the APC gene is also strongly linked to cancers, and in particular colorectal cancer resulting from familial adenomatous polyposis (FAP).
  • 3.3K
  • 01 Dec 2022
Topic Review
SOX2 Anophthalmia Syndrome
SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.
  • 3.2K
  • 24 Dec 2020
Topic Review
10q26 Deletion Syndrome
10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.
  • 3.2K
  • 26 Aug 2021
Topic Review
Cladistics
Cladistics (/kləˈdɪstɪks/; from grc κλάδος (kládos) 'branch') is an approach to biological classification in which organisms are categorized in groups ("clades") based on hypotheses of most recent common ancestry. The evidence for hypothesized relationships is typically shared derived characteristics (synapomorphies) that are not present in more distant groups and ancestors. However, from an empirical perspective, common ancestors are inferences based on a cladistic hypothesis of relationships of taxa whose character states can be observed. Theoretically, a last common ancestor and all its descendants constitute a (minimal) clade. Importantly, all descendants stay in their overarching ancestral clade. For example, if the terms worms or fishes were used within a strict cladistic framework, these terms would include humans. Many of these terms are normally used paraphyletically, outside of cladistics, e.g. as a 'grade', which are fruitless to precisely delineate, especially when including extinct species. Radiation results in the generation of new subclades by bifurcation, but in practice sexual hybridization may blur very closely related groupings. As a hypothesis, a clade can only be rejected if some groupings were explicitly excluded. It may then be found that the excluded group did actually descend from the last common ancestor of the group, and thus emerged within the group. ("Evolved from" is misleading, because in cladistics all descendants stay in the ancestral group). Upon finding that the group is paraphyletic this way, either such excluded groups should be granted to the clade, or the group should be abolished. Testifying to human focus, bias and perhaps exceptionalism, humans have never been placed in a paraphyletic group, whereas most other organisms have been. Branches down to the divergence to the next significant (e.g. extant) sister are considered stem-groupings of the clade, but in principle each level stands on its own, to be assigned a unique name. For a fully bifurcated tree, adding a group to a tree also adds an additional (named) clade, and potentially a new level. Specifically, also extinct groups are always put on a side-branch, not distinguishing whether an actual ancestor of other groupings was found. The techniques and nomenclature of cladistics have been applied to disciplines other than biology. (See phylogenetic nomenclature.) Cladistics findings are posing a difficulty for taxonomy, where the rank and (genus-)naming of established groupings may turn out to be inconsistent. Cladistics is now the most commonly used method to classify organisms.
  • 3.1K
  • 19 Oct 2022
Topic Review
3D Genome
The genome is the most functional part of a cell, and genomic contents are organized in a compact three-dimensional (3D) structure. The genome contains millions of nucleotide bases organized in its proper frame. Rapid development in genome sequencing and advanced microscopy techniques have enabled us to understand the 3D spatial organization of the genome. Chromosome capture methods using a ligation approach and the visualization tool of a 3D genome browser have facilitated detailed exploration of the genome. 
  • 3.1K
  • 04 Nov 2021
Topic Review
Disorders of Sex Development
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are medical conditions involving the reproductive system. More specifically, these terms refer to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical." The term has been controversial, and research has shown that affected people experience a negative impact, with the terminology impacting choice and utilization of health care providers. The World Health Organization and many medical journals still reference DSDs as intersex traits or conditions. The Council of Europe and Inter-American Commission on Human Rights have called for a review of medical classifications that unnecessarily medicalize intersex traits.
  • 3.1K
  • 09 Oct 2022
Topic Review
Cloned Goats
The Cloned Goats or Transgenic Cloned Goats are generated and/or multiplied by one the most advanced and widely applied assisted reproductive technologies (ARTs) designated as somatic cell cloning or somatic cell nuclear transfer (SCNT). The SCNT-derived goats can provide a valuable tool for a variety of transgenic, biomedical, biopharmaceutical and nutri-biotechnological research.
  • 3.1K
  • 21 Jul 2021
Topic Review
TRNT1 and tRNA Maturation
tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency. In addition, even within the same disease, the severity and range of the symptoms vary greatly, suggesting a broad, pleiotropic impact of imparting TRNT1 function on diverse cellular systems. This entry describes the current state of knowledge of the TRNT1 function and the phenotypes associated with mutations in TRNT1.
  • 3.1K
  • 05 Nov 2020
Topic Review
Cat Body-type Mutation
Cats, like all living organisms, occasionally have mutations that affect their body type. Sometimes, these cat body-type mutations are striking enough that humans select for and perpetuate them. This is not always in the best interests of the cat, as many of these mutations are harmful; some are even lethal in their homozygous form. This article gives a selection of cat body type mutant alleles and the associated mutations with a brief description.
  • 2.8K
  • 29 Sep 2022
Topic Review
Sleeping Beauty Transposon System
Sleeping Beauty (SB) is a transposon system that has been widely used as a genetic engineering tool. Central to the development of any transposon as a research tool is the ability to integrate a foreign piece of DNA into the cellular genome. Driven by the need for efficient transposon-based gene vector systems, extensive studies have largely elucidated the molecular actors and actions taking place during SB transposition. Close transposon relatives and other recombination enzymes, including retroviral integrases, have served as useful models to infer functional information relevant to SB. Recently obtained structural data on the SB transposase enable a direct insight into the workings of this enzyme. These efforts cumulatively allowed the development of novel variants of SB that offer advanced possibilities for genetic engineering due to their hyperactivity, integration deficiency, or targeting capacity. However, many aspects of the process of transposition remain poorly understood and require further investigation. We anticipate that continued investigations into the structure–function relationships of SB transposition will enable the development of new generations of transposition-based vector systems, thereby facilitating the use of SB in preclinical studies and clinical trials.
  • 2.8K
  • 27 Jan 2021
Topic Review
Mabry Syndrome
Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.
  • 2.8K
  • 23 Dec 2020
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