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Pelizaeus–Merzbacher Disease
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (''PLP1''), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a group of genetic diseases referred to as leukodystrophies. Signs and symptoms The hallmark signs and symptoms of Pelizaeus–Merzbacher disease include little or no movement in the arms or legs, respiratory difficulties, and characteristic horizontal movements of the eyes left to right. The onset of Pelizaeus–Merzbacher disease is usually in early infancy. The most characteristic early signs are nystagmus (rapid, involuntary, rhythmic motion of the eyes) and low muscle tone. Motor abilities are delayed or never acquired, mostly depending upon the severity of the mutation. Most children with Pelizaeus–Merzbacher disease learn to underst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked
Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome). Genes situated on the X-chromosome are thus termed X-linked, and are transmitted by both males and females, while genes situated on the Y-chromosome are termed Y-linked, and are transmitted by males only. As human females possess two X-chromosomes and human males possess one X-chromosome and one Y-chromosome, the phenotype of a sex-linked trait can differ between males and females due to the differential number of alleles (polymorphisms) possessed for a given gene. In humans, sex-linked patterns of inheritance are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes sex-linked patterns of inheritance characteristically different from autosomal dominance and recessiveness. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to form images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from computed tomography (CT) and positron emission tomography (PET) scans. MRI is a medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other NMR applications, such as NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft tissues, e.g. in the brain or abdomen. However, it may be perceived as less comfortable by patients, due to the usually longer and louder measurements with the subject in a long, confining tube, although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Friedrich Christoph Pelizaeus
Friedrich Christoph Pelizaeus (3 April 1851 – 11 August 1942) was a German balneologist and neurologist who was a native of Rietberg. In 1874 he earned his medical doctorate from the University of Würzburg, and afterwards served as an assistant to Karl Friedrich Ferdinand Runge (1835-1882) at the resort in Nassau an der Lahn. Later he worked as a balneologist at Ilmenau, Kreischa and Bad Oeynhausen. @ In 1896 he received the title of ''Sanitätsrat'' (health advisor). Pelizaeus died in on 11 August 1942. In 1885 he provided the first description of a < ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Stennis Foundation
The Stennis Foundation is a registered nonprofit organization based in the U.S. The foundation is primarily a fundraising organization, sending money to various research projects. Currently, the Stennis Foundation supports research at Duke, Kennedy Krieger, and San Raffaele Institute in Milan, Italy. According to their website, the Stennis Foundation is committed to raising public awareness regarding the leukodystrophies, and funds for related research. Their goal is to advance research through proper funding. Their mission statement is, "One Step Closer to a Cure." The foundation's beginnings were inspired by Dr. Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset metachromatic leukodystrophy. Conditions of interest *Leukodystrophy *Metachromatic leukodystrophy *Adrenoleukodystrophy *Krabbe disease *Alexander disease * Canavan disease *Pelizaeus–Merzbacher disease Pelizaeus–Merzbacher disease is an X-linked neurological disor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Myelin Project
The Myelin Project was a 501(c)(3) nonprofit organization established in 1989 by Augusto Odone and his wife, Michaela and their friend Patti Chapman. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the Odones' struggle was dramatized in the 1992 Hollywood film ''Lorenzo's Oil'', starring actors Nick Nolte, Susan Sarandon and Peter Ustinov. After 20 years, the Myelin Project was merged into another organization called ALD Connect in July 2019. The Myelin Project had three branches, in the United States, Germany, and the United Kingdom. Its scientific advisory committee included researchers from Yale University and the University of Wisconsin–Madison in the United States, the Istituto Superiore di Sanità and San Raffaele Hospital in Italy, the Hôpital de la Salpêtrière and the Institute Pasteur in France, Queen's University at Kingston in Canada, the University of Cambridge and University of Edinburg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antisense Therapy
Antisense therapy is a form of treatment that uses antisense oligonucleotides (ASOs) to target messenger RNA (mRNA). ASOs are capable of altering mRNA expression through a variety of mechanisms, including ribonuclease H mediated decay of the pre-mRNA, direct steric blockage, and exon content modulation through Splicing (genetics), splicing site binding on pre-mRNA. Several ASOs have been approved in the United States, the European Union, and elsewhere. Nomenclature The common stem for antisense oligonucleotides drugs is -rsen. The substem -virsen designates antiviral antisense oligonucleotides. Antisense Oligonucleotide Development Developments in ASO modification are separated into three generations. Generation one is called backbone-modified and focuses on the phosphodiester group of the nucleotide. This impacts inter-nucleotide binding. These modifications led to better distribution, reduced urinary excretion, and prolonged residence time of the ASOs in the cell. Some exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CRISPR
CRISPR (; acronym of clustered regularly interspaced short palindromic repeats) is a family of DNA sequences found in the genomes of prokaryotic organisms such as bacteria and archaea. Each sequence within an individual prokaryotic CRISPR is derived from a DNA fragment of a bacteriophage that had previously infected the prokaryote or one of its ancestors. These sequences are used to detect and destroy DNA from similar bacteriophages during subsequent infections. Hence these sequences play a key role in the antiviral (i.e. anti- phage) defense system of prokaryotes and provide a form of heritable, acquired immunity. CRISPR is found in approximately 50% of sequenced bacterial genomes and nearly 90% of sequenced archaea. Cas9 (or "CRISPR-associated protein 9") is an enzyme that uses CRISPR sequences as a guide to recognize and open up specific strands of DNA that are complementary to the CRISPR sequence. Cas9 enzymes together with CRISPR sequences form the basis of a technology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paul J
Paul may refer to: People * Paul (given name), a given name, including a list of people * Paul (surname), a list of people * Paul the Apostle, an apostle who wrote many of the books of the New Testament * Ray Hildebrand, half of the singing duo Paul & Paula * Paul Stookey, one-third of the folk music trio Peter, Paul and Mary * Billy Paul, stage name of American soul singer Paul Williams (1934–2016) * Vinnie Paul, drummer for American Metal band Pantera * Paul Avril, pseudonym of Édouard-Henri Avril (1849–1928), French painter and commercial artist * Paul, pen name under which Walter Scott wrote ''Paul's letters to his Kinsfolk'' in 1816 * Jean Paul, pen name of Johann Paul Friedrich Richter (1763–1825), German Romantic writer Places * Paul, Cornwall, a village in the civil parish of Penzance, United Kingdom * Paul (civil parish), Cornwall, United Kingdom * Paul, Alabama, United States, an unincorporated community * Paul, Idaho, United States, a city * Paul, Nebraska ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Stem Cell
Neural stem cells (NSCs) are self-renewing, multipotent cells that firstly generate the radial glial progenitor cells that generate the neurons and glia of the nervous system of all animals during embryonic development. Some neural progenitor stem cells persist in highly restricted regions in the adult vertebrate brain and continue to produce neurons throughout life. Differences in the size of the central nervous system are among the most important distinctions between the species and thus mutations in the genes that regulate the size of the neural stem cell compartment are among the most important drivers of vertebrate evolution. Stem cells are characterized by their capacity to differentiate into multiple cell types. They undergo symmetric or asymmetric cell division into two daughter cells. In symmetric cell division, both daughter cells are also stem cells. In asymmetric division, a stem cell produces one stem cell and one specialized cell. NSCs primarily differentiate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phase I Clinical Trials
The phases of clinical research are the stages in which scientists conduct experiments with a health intervention to obtain sufficient evidence for a process considered effective as a medical treatment. For drug development, the clinical phases start with testing for drug safety in a few human subjects, then expand to many study participants (potentially tens of thousands) to determine if the treatment is effective. Clinical research is conducted on drug candidates, vaccine candidates, new medical devices, and new diagnostic assays. Description Clinical trials testing potential medical products are commonly classified into four phases. The drug development process will normally proceed through all four phases over many years. When expressed specifically, a clinical trial phase is capitalized both in name and Roman numeral, such as "Phase I" clinical trial. If the drug successfully passes through Phases I, II, and III, it will usually be approved by the national regulatory auth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
StemCells, Inc
StemCells, Inc. is a public biopharmaceutical company headquartered in Newark, California, that is developing purified human neural stem cells (HuCNS-SCs) in the hopes of treating central nervous system disorders and paralysis. StemCells' HuCNS-SCs have the ability to differentiate into the three main types of cells found in the central nervous system: neurons, astrocytes and oligodendrocytes Oligodendrocytes (), also known as oligodendroglia, are a type of neuroglia whose main function is to provide the myelin sheath to neuronal axons in the central nervous system (CNS). Myelination gives metabolic support to, and insulates the axon .... They are being studied in early stage trials. In March 2020, Microbot Medical Inc. announced the appointment of Eyal Morag, M.D. to Chief Medical Officer. References External links StemCells, Inc. website {{Authority control Biotechnology companies of the United States ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve Fiber
An axon (from Greek ἄξων ''áxōn'', axis) or nerve fiber (or nerve fibre: see spelling differences) is a long, slender projection of a nerve cell, or neuron, in vertebrates, that typically conducts electrical impulses known as action potentials away from the nerve cell body. The function of the axon is to transmit information to different neurons, muscles, and glands. In certain sensory neurons ( pseudounipolar neurons), such as those for touch and warmth, the axons are called afferent nerve fibers and the electrical impulse travels along these from the periphery to the cell body and from the cell body to the spinal cord along another branch of the same axon. Axon dysfunction can be the cause of many inherited and acquired neurological disorders that affect both the peripheral and central neurons. Nerve fibers are classed into three typesgroup A nerve fibers, group B nerve fibers, and group C nerve fibers. Groups A and B are myelinated, and group C are unmyelinated. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
