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Topic Review
PAX2 Gene
paired box 2
  • 885
  • 25 Dec 2020
Topic Review
TNNT3 Gene
Troponin T3, fast skeletal type: The TNNT3 gene provides instructions for making one form of a protein called troponin T.
  • 885
  • 25 Dec 2020
Topic Review
Epigenetics of Aging
Aging represents the multifactorial decline in physiological function of every living organism. Over the past decades, several hallmarks of aging have been defined, including epigenetic deregulation. Indeed, multiple epigenetic events were found altered across different species during aging. Epigenetic changes directly contributing to aging and aging-related diseases include the accumulation of histone variants, changes in chromatin accessibility, loss of histones and heterochromatin, aberrant histone modifications, and deregulated expression/activity of miRNAs. As a consequence, cellular processes are affected, which results in the development or progression of several human pathologies, including cancer, diabetes, osteoporosis, and neurodegenerative disorders.
  • 885
  • 13 Jan 2021
Topic Review
Up-Frameshift Protein 1 in Human Disorders
Up-frameshift protein 1 (UPF1) plays the role of a vital controller for transcripts, ready to react in the event of an incorrect translation mechanism. It is well known as one of the key elements involved in mRNA decay pathways and participates in transcript and protein quality control in several different aspects. Firstly, UPF1 specifically degrades premature termination codon (PTC)-containing products in a nonsense-mediated mRNA decay (NMD)-coupled manner. Additionally, UPF1 can potentially act as an E3 ligase and degrade target proteins independently from mRNA decay pathways. Thus, UPF1 protects cells against the accumulation of misfolded polypeptides. However, this multitasking protein may still hide many of its functions and abilities.
  • 885
  • 18 May 2023
Topic Review
Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 884
  • 23 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 884
  • 25 Dec 2020
Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 884
  • 25 Dec 2020
Topic Review
SerpinB10 in UV-Induced Cellular Response
UV-induced DNA damage response and repair are extensively studied processes, as any malfunction in these pathways contributes to the activation of tumorigenesis. Although several proteins involved in these cellular mechanisms have been described, the entire repair cascade has remained unexplored. To identify new players in UV-induced repair, we performed a microarray screen, in which we found SerpinB10 (SPB10, Bomapin) as one of the most dramatically upregulated genes following UV irradiation. Here, we demonstrate that an increased mRNA level of SPB10 is a general cellular response following UV irradiation regardless of the cell type. We show that although SPB10 is implicated in the UV-induced cellular response, it has no indispensable function in cell survival upon UV irradiation. Nonetheless, we reveal that SPB10 might be involved in delaying the duration of DNA repair in interphase and also in S-phase cells. Additionally, we also highlight the interaction between SPB10 and H3. Based on our results, it seems that SPB10 protein is implicated in UV-induced stress as a “quality control protein”, presumably by slowing down the repair process.
  • 884
  • 12 Aug 2021
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 883
  • 23 Dec 2020
Topic Review
Familial HDL Deficiency
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (HDL) in the blood.
  • 883
  • 25 Dec 2020
Topic Review
PAFAH1B1 Gene
platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • 883
  • 25 Dec 2020
Topic Review
Genetic Markers in Lung Cancer
Lung cancer is the most often diagnosed cancer in the world and the most frequent cause of cancer death. The prognosis for lung cancer is relatively poor and 75% of patients are diagnosed at its advanced stage. The currently used diagnostic tools are not sensitive enough and do not enable diagnosis at the early stage of the disease. Therefore, searching for new methods of early and accurate diagnosis of lung cancer is crucial for its effective treatment. Lung cancer is the result of multistage carcinogenesis with gradually increasing genetic and epigenetic changes. Screening for the characteristic genetic markers could enable the diagnosis of lung cancer at its early stage. Better understanding of lung cancer carcinogenesis and possibilities of novel molecular strategies and techniques in the identification of lung cancer genetic markers is crucial for lung cancer diagnosis at its early-stage, as well as for therapeutic decision making.
  • 882
  • 02 Jul 2020
Topic Review
Sturge-Weber Syndrome
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.  
  • 882
  • 23 Dec 2020
Topic Review
CXCR4 Gene
C-X-C Motif Chemokine Receptor 4
  • 882
  • 23 Dec 2020
Topic Review
CYP2C19 Gene
Cytochrome P450 Family 2 Subfamily C Member 19
  • 882
  • 23 Dec 2020
Topic Review
Deafness-dystonia-optic Neuronopathy Syndrome
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
  • 882
  • 24 Dec 2020
Topic Review
Primary Familial Brain Calcification
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
  • 882
  • 24 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 882
  • 25 Dec 2020
Topic Review
Prescription Opioid Misuse
Prescription opioids are used for some chronic pain conditions. However, generally, long-term therapy has unwanted side effects which may trigger addiction, overdose, and eventually cause deaths. Opioid addiction and chronic pain conditions have both been associated with evidence of genetic and epigenetic alterations. Despite intense research interest, many questions about the contribution of epigenetic changes to this typology of addiction vulnerability and development remain unanswered.
  • 882
  • 06 Sep 2021
Topic Review
Color Vision Deficiency
Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. 
  • 881
  • 24 Dec 2020
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