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Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
The Singapore Medical Association (abbreviated SMA) is a professional association representing the interests of medical professionals in Singapore. It was established on September 15, 1959, replacing the Malaya Branch of the British Medical Association. [2] As of 2020, it had over 8,200 members. [3]
Only 12 known human families are described in scientific literature to have SMA-PME. [2] SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner. [3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis. [4]
In eukaryotes, the cell cycle consists of four main stages: G 1, during which a cell is metabolically active and continuously grows; S phase, during which DNA replication takes place; G 2, during which cell growth continues and the cell synthesizes various proteins in preparation for division; and the M phase, during which the duplicated ...
SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. [2] SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.
Overview of signal transduction pathways involved in apoptosis. Cell death is the event of a biological cell ceasing to carry out its functions. This may be the result of the natural process of old cells dying and being replaced by new ones, as in programmed cell death, or may result from factors such as diseases, localized injury, or the death of the organism of which the cells are part.
The cell cycle is a series of complex, ordered, sequential events that control how a single cell divides into two cells, and involves several different phases. The phases include the G1 and G2 phases, DNA replication or S phase, and the actual process of cell division, mitosis or M phase. [ 1 ]