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Shapiro–Senapathy Algorithm
The ShapiroSenapathy algorithm (S&S) is an algorithm for predicting RNA splicing, splice junctions in genes of animals and plants. This algorithm has been used to discover disease-causing Splice site mutation, splice site mutations and cryptic splice sites. The algorithm A splice site is the border between an exon and intron in a gene. These sites contain a particular sequence motif, which is necessary for recognition and processing by the RNA splicing machinery. The S&S algorithm uses sliding windows of eight nucleotides, corresponding to the length of the splice site sequence motif, to identify these conserved sequences and thus potential splice sites. Using a weighted table of nucleotide frequencies, the S&S algorithm outputs a Consensus (computer science), consensus-based percentage for the possibility of the window containing a splice site. The S&S algorithm serves as the basis of other software tools, such as Human Splicing Finder, Splice-site Analyzer Tool, dbass (Ensem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Squamous Cell Carcinoma
Squamous-cell carcinoma (SCC), also known as epidermoid carcinoma, comprises a number of different types of cancer that begin in squamous cells. These cells form on the surface of the skin, on the lining of hollow organs in the body, and on the lining of the respiratory and digestive tracts. The squamous-cell carcinomas of different body sites can show differences in their presented symptoms, natural history, prognosis, and response to treatment. By body location Human papillomavirus infection has been associated with SCCs of the oropharynx, lung, fingers, and anogenital region. Head and neck cancer About 90% of cases of head and neck cancer (cancer of the mouth, nasal cavity, nasopharynx, throat and associated structures) are due to SCC. Skin Cutaneous squamous-cell carcinoma is the second most common skin cancer, accounting for over 1 million cases in the United States each year. Thyroid Primary squamous-cell carcinoma of the thyroid shows an aggressive biologica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Anemia
Fanconi anemia (FA) is a rare, autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pheochromocytoma
Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. These neuroendocrine tumors can be sympathetic, where they release catecholamines into the bloodstream which cause the most common symptoms, including hypertension (high blood pressure), tachycardia (fast heart rate), sweating, and headaches. Some PGLs may secrete little to no catecholamines, or only secrete paroxysmally (episodically), and other than secretions, PGLs can still become clinically relevant through other secretions or mass effect (most common with head and neck PGL). PGLs of the head and neck are typically parasympathetic and their sympathetic counterparts are predominantly located in the abdomen and pelvis, particularly concentrated at the organ of Zuckerkandl at the bifurcation of the aorta. Signs and symptoms The symptoms of a sympathetic pheochromocytoma are related to sympathetic n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
