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Topic Review
MECP2-Related Disorders in Males
Methyl CpG binding protein 2 ( MECP2 ) is an unstructured protein that can adopt local secondary structures when binding to other molecules, which explains its involvement in multiple molecular interactions and thereby, functions. Thus, MECP2 is a multifunctional gene that acts as a transcriptional regulator (both activating and repressing) and a chromatin remodeler; it also interacts with the RNA splicing machinery and with microRNA processing machinery, among others. Post-translational modifications are also implicated in regulating its activity and interactions with other proteins.
  • 1.2K
  • 08 Feb 2022
Topic Review
Bipolar Disorder
Bipolar disorder is a mental health condition that causes extreme shifts in mood, energy, and behavior. This disorder most often appears in late adolescence or early adulthood, although symptoms can begin at any time of life.
  • 1.2K
  • 24 Dec 2020
Topic Review
HNSCC
Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.
  • 1.2K
  • 23 Dec 2020
Topic Review
Alternative Splicing of hTERT
Alternative splicing (AS) of human telomerase catalytic subunit (hTERT, human telomerase reverse transcriptase) pre-mRNA strongly regulates telomerase activity. Several proteins can regulate AS in a cell type-specific manner and determine the functions of cells. In addition to being involved in telomerase activity regulation, AS provides cells with different splice variants that may have alternative biological activities. The modulation of telomerase activity through the induction of hTERT AS is involved in the development of different cancer types and embryos, and the differentiation of stem cells. Regulatory T cells may suppress the proliferation of target human and murine T and B lymphocytes and NK cells in a contact-independent manner involving activation of TERT AS. 
  • 1.2K
  • 18 May 2021
Topic Review
Thiopurine S-methyltransferase Deficiency
Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
  • 1.2K
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 5A
Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.2K
  • 23 Dec 2020
Topic Review
FGG Gene
Fibrinogen gamma chain
  • 1.2K
  • 25 Dec 2020
Topic Review
Sheldon-Hall Syndrome
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet.
  • 1.2K
  • 25 Dec 2020
Topic Review
FBXL4-Related Early Onset Mitochondrial Encephalopathy
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).
  • 1.2K
  • 04 Jan 2021
Topic Review
Nemaline Myopathy
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs.
  • 1.2K
  • 23 Dec 2020
Topic Review
Roles of Werner Syndrome
WRN, the gene responsible for the premature aging associated with Werner syndrome (WS), was identified. Research on genes that suppress aging has been conducted worldwide. During this time, many researchers have participated in these investigations, and it has been established that the protein encoded by WRN is an ATPase activated by single-stranded DNA with DNA unwinding activity in the 3′ to 5′ direction, and that it performs a unique 3′ to 5′ exonuclease activity not observed in other RecQ family members, interacts with a great variety of DNA metabolic proteins, and that it is involved in replication, repair, recombination, transcription, and histone modifications to maintain chromosome stability from the base sequence level to the chromatin level. Within the enzymes/proteins that play crucial roles in these chromosomal events, the WRN helicase plays a fine-tuning role as a supporter. Its functional abnormalities induce chromosomal instability. Abnormal DNA structures accumulated in chromosomes and changes in gene expression profiles caused by epigenetic and transcriptional abnormalities lead to systemic disruption of cellular functions (For example, loss of protein homeostasis, mitochondrial dysfunction, shortened mitotic lifespan, impaired differentiation) and manifest as symptoms such as premature aging.
  • 1.2K
  • 17 Oct 2022
Topic Review
Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Griscelli Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy.
  • 1.2K
  • 23 Dec 2020
Topic Review
Formins in Human Monogenic Disease
Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as being responsible for a human inherited disorder: a form of sensorineural hearing loss. Since then, our knowledge of the links between formins and disease has deepened considerably. Mutations of DIAPH1 and six other formin genes (DAAM2, DIAPH2, DIAPH3, FMN2, INF2 and FHOD3) have been identified as the genetic cause of a variety of inherited human disorders, including intellectual disability, renal disease, peripheral neuropathy, thrombocytopenia, primary ovarian insufficiency, hearing loss and cardiomyopathy.
  • 1.2K
  • 18 Oct 2021
Topic Review
Woodhouse-Sakati Syndrome
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.  
  • 1.2K
  • 24 Dec 2020
Topic Review
Applications of Next-Generation Digital Pathology
Tissue cytometry may provide the methodological basis for next-generation digital pathology, which is the state-of-the-art technology to use and constitutes an enabling factor for precision medicine in clinics as well as in research. Within this review, we are going one step further by addressing the concepts of next-generation digital pathology using imaging-based tissue cytometry, in combination with multiplexing and RNA ISH technologies, as an emerging and central method within precision diagnostics, and discussing various applications.
  • 1.2K
  • 07 May 2021
Topic Review
Genetic Engineering for Cannabis sativa L.
Cannabis sativa L. (Cannabis, hemp or marijuana) is an erect annual herb of the Cannabiceae family. Cannabis is considered to be monotypic (occurs as a single species), but arguments for its polytypic nature also exist.
  • 1.2K
  • 20 May 2022
Topic Review
Monoubiquitin Signaling in Genetic Diseases
Ubiquitination is a reversible post-translational modification that controls protein function and stability. Different types of ubiquitination were described including polyubiquitination, the attachment of multiple ubiquitin residues, or monoubiquitination, the attachment of a single ubiquitin molecule. While most of the studies have described the role of polyubiquitination, recent evidences show that monoubiquitination is a key regulator of different cellular processes, including vesicular trafficking and protein complex formation and degradation. Enzymes regulating monoubiquitination such as E2 conjugating enzymes, E3 ligases or ubiquitin hydrolases, are found altered in several genetic diseases, including Parkinson's disease or Noonan syndrome.
  • 1.2K
  • 29 Oct 2020
Topic Review
Megalencephaly-Capillary Malformation Syndrome
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 1.2K
  • 23 Dec 2020
Topic Review
Bartter Syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
  • 1.2K
  • 24 Dec 2020
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