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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
Sequencing for Inherited Retinal Diseases
Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. 
  • 1.2K
  • 22 Sep 2021
Topic Review
FGG Gene
Fibrinogen gamma chain
  • 1.2K
  • 25 Dec 2020
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
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
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
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
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
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
Topic Review
Escherichia coli-Caused Blood–Brain Barrier Disruption
Brain microvascular endothelial cells (BMECs) constitute the structural and functional basis for the blood–brain barrier (BBB) and play essential roles in bacterial meningitis. Electrical cell-substrate impedance sensing (ECIS) measurement and Western blot assay demonstrated lncRSPH9-4 overexpression in hBMECs mediated the BBB integrity disruption.
  • 1.2K
  • 18 Jun 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
Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.
  • 1.2K
  • 24 Dec 2020
Topic Review
FGB Gene
Fibrinogen beta chain: The FGB gene provides instructions for making a protein called the fibrinogen B beta (Bβ) chain, one piece (subunit) of the fibrinogen protein. 
  • 1.2K
  • 25 Dec 2020
Topic Review
GHR Gene
Growth hormone receptor
  • 1.2K
  • 25 Dec 2020
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
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
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
Troyer Syndrome
Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.2K
  • 23 Dec 2020
Topic Review
Ocular Gene Delivery
The eye is at the forefront of developing therapies for genetic diseases. With the FDA approval of the first gene-therapy drug for a form of congenital blindness, numerous studies have been initiated to develop gene therapies for other forms of eye diseases. These examinations have revealed new information about the benefits as well as restrictions to using drug-delivery routes to the different parts of the eye. In this entry, authors will discuss the ocular delivery landscape that is currently being investigated and provide insights into their advantages and disadvantages. Efficient delivery routes and vehicle are crucial for an effective, safer, and longer-lasting therapy.
  • 1.2K
  • 13 Aug 2021
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