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Topic Review
PHEX Gene
phosphate regulating endopeptidase homolog X-linked
  • 1.1K
  • 25 Dec 2020
Topic Review
PHKA1 Gene
phosphorylase kinase regulatory subunit alpha 1
  • 1.1K
  • 25 Dec 2020
Topic Review
GTS's Candidate Genes and Pathways
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of heritability suggesting, that genetic risk factors play an important role in disease etiology. However, the identification of major GTS susceptibility genes has been challenging, presumably due to the complex interplay between several genetic factors and environmental influences, low penetrance of each individual factor, genetic diversity in populations, and the presence of comorbid disorders. Even though several strong candidate genes have hitherto been identified, none of these have turned out to be major susceptibility genes yet.
  • 1.1K
  • 15 Sep 2021
Topic Review
Bone in Inherited Endocrine Tumors
Endocrine tumors are neoplasms originating from specialized hormone-secreting cells. They can develop as sporadic tumors, caused by somatic mutations, or in the context of familial Mendelian inherited diseases. Congenital forms, manifesting as syndromic or non-syndromic diseases, are caused by germinal heterozygote autosomal dominant mutations in oncogenes or tumor suppressor genes.
  • 1.1K
  • 30 Aug 2021
Topic Review
Xeroderma Pigmentosum
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum.  
  • 1.1K
  • 24 Dec 2020
Topic Review
C10orf71
C10orf71 is a gene located on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.
  • 1.1K
  • 28 Oct 2022
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.
  • 1.1K
  • 22 Dec 2021
Topic Review
Porphyria
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
  • 1.1K
  • 24 Dec 2020
Topic Review
Sphingolipid Pathway in IDH1mut Glioma
The presence of the IDH mutation in glioma raises the possibility that these CNS malignancies could be targeted with metabolic-based therapeutics. Exploration of the role that regulatory lipids, such as sphingolipids serve within the IDH1mut gliomas is limited. Our study incorporates LC/MS lipidomic discovery with an aim to identify vulnerabilities within the sphingolipid metabolism that could be exploited therapeutically. We reveal elevation in certain lipids produced along the sphingolipid degradation pathway for IDH1 mutated glioma cells. Our review of TCGA data from clinical patients reveal a parallel trend for enzymes associated with sphingolipid degradation that correlates to increased survivability in glioma patients. We demonstrate the biostatic effects of treatments which target this pathway via inhibiting sphingosine kinase and exacerbating the imbalance between sphingosine and sphingosine 1-phosphate. 
  • 1.1K
  • 23 Oct 2020
Topic Review
The Oxytonic Contraction
The oxytonic contraction: in our model of cold stress, the extreme low temperature increases Oxytocin receptor (Oxtr) in PVN and at the tissue levels in the soleus muscle but drive the decrease of Oxytocin (Oxt) in plasma. The increase of Oxt in bone balance the decrease of plasmatic Oxt. This mechanism triggers the oxytonic contractions that potentiate the slow-twitch muscle to ensure the proper physical reaction to challenging situations.
  • 1.1K
  • 08 Feb 2021
Topic Review
DCas9 Activation System
CRISPR activation (CRISPRa) is one type of CRISPR tool that use modified versions of dCas9, a mutation of Cas9 without endonuclease activity, with added transcriptional activators on dCas9 or the guide RNAs (gRNAs). Like a standard CRISPR-Cas9 system, dCas9 activation systems rely on similar components such as Cas9 variants for modulation or modification of genes, gRNAs to guide Cas9 to intended targets, and vectors for introduction into cells. However, while a standard CRISPR-Cas9 system relies on creating breaks in DNA through the endonuclease activity of Cas9 and then manipulating DNA Repair mechanisms for gene editing, dCas9 activation systems are modified and employ transcriptional activators to increase expression of genes of interest. Such systems are usable for many purposes including but not limited to, genetic screens and overexpression of proteins of interest.
  • 1.1K
  • 12 Oct 2022
Topic Review
Miyoshi Myopathy
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
  • 1.1K
  • 23 Dec 2020
Topic Review
Boucher-Neuhäuser Syndrome
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
  • 1.1K
  • 24 Dec 2020
Topic Review
Stüve-Wiedemann Syndrome
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature.
  • 1.1K
  • 23 Dec 2020
Topic Review
Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females.
  • 1.1K
  • 23 Dec 2020
Topic Review
AMER1 Gene
APC membrane recruitment protein 1
  • 1.1K
  • 24 Dec 2020
Topic Review
Genetic Testing for Antipsychotic Pharmacotherapy
Genetic testing is increasingly utilized to identify genetic biomarkers for optimizing the efficacy and tolerability of psychotropic drugs, especially antidepressants. However, genetic testing is also being requested to enhance the effectiveness of antipsychotic drugs, which is especially true for the treatment-refractory schizophrenia population, who frequently experience irrational polypharmacy at high dosages with significant adverse effects, generally without much therapeutic benefit.
  • 1.1K
  • 27 Jul 2021
Topic Review
TRPM1 Gene
Transient receptor potential cation channel subfamily M member 1: The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). 
  • 1.1K
  • 25 Dec 2020
Topic Review
Bradyopsia
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.
  • 1.1K
  • 24 Dec 2020
Topic Review
Rosacea
Rosacea is a long-lasting (chronic) skin disease that affects the face, primarily the forehead, nose, cheeks, and chin. The signs and symptoms of rosacea vary, and they may come and go or change over time.
  • 1.1K
  • 04 Jan 2021
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