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Branchio-oculo-facial Syndrome
Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair. Signs and symptoms "Branchio" refers to the branchial arches, also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues in the neck and facial area. In individuals affected by this condition, the branchial arches fail to develop properly. This leads to some of the physical conditions of this syndrome, which include abnormal patches of skin on the neck and face region and can be abnormally hairy, thin or red and with a high number of blood vessels. "Oculo" re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TFAP2A
Transcription factor AP-2 alpha (Activating enhancer binding Protein 2 alpha), also known as TFAP2A, is a protein that in humans is encoded by the ''TFAP2A'' gene. Function Transcription factor AP-2 alpha is a 52-kD sequence-specific DNA-binding protein that enhances transcription of specific genes by binding to a GC-rich DNA sequence first identified in the cis-regulatory region of SV40 virus DNA and in cis-regulatory regions of a variety of cellular genes. The TFAP2-alpha gene was isolated and found to be retinoic acid-inducible in NT2 teratocarcinoma cells suggesting a potential role for AP-2 alpha in cellular differentiation. During embryonic development, AP-2 alpha is expressed in neural crest cells migrating from the cranial neural folds during neural tube closure, and is also expressed in ectoderm, parts of the central nervous system, limb buds, and mesonephric system suggesting that AP-2 alpha plays an important role in the determination and development of these ti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
L249P
L, or l, is the twelfth letter in the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''el'' (pronounced ), plural ''els''. History Lamedh may have come from a pictogram of an ox goad or cattle prod. Some have suggested a shepherd's staff. Use in writing systems Phonetic and phonemic transcription In phonetic and phonemic transcription, the International Phonetic Alphabet uses to represent the lateral alveolar approximant. English In English orthography, usually represents the phoneme , which can have several sound values, depending on the speaker's accent, and whether it occurs before or after a vowel. The alveolar lateral approximant (the sound represented in IPA by lowercase ) occurs before a vowel, as in ''lip'' or ''blend'', while the velarized alveolar lateral approximant (IPA ) occurs in ''bell'' and ''milk''. This velarization does not occur in many European langu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor Deficiencies
Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, the first step in gene expression ** Bacterial transcription, the generation of RNA transcripts of the genetic material in prokaryotes ** Eukaryotic transcription, the process of copying the genetic information stored in DNA into RNA in eukaryotes ** ''Transcription'' (journal), an academic journal about genetics ** Transcription factor, a protein that controls the rate of transcription of genetic information from DNA to messenger RNA Music * Transcription (music), notating, converting musical sound into visual musical notes (for any purpose) ** Piano transcription, a common type of music transcription * Transcription disc, a sound recording made during broadcasting for internal use by the broadcasting organization Speech transcription The pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Organization For Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is an American non-profit organization aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It was founded in 1983 by Abbey Meyers, along with individuals and rare diseases leaders of rare disease support groups, and it is a 501(c)3 tax exempt organization. History The organization grew out of an "informal coalition" of support groups and families called together in the late 1970s to advocate legislation supporting development of orphan drugs, or drugs for treating rare diseases. They succeeded in getting the United States Congress to pass the Orphan Drug Act (ODA) in early 1983. The initial coalition was led by Abbey Meyers, whose son had Tourette syndrome. Tourette syndrome was estimated by the National Institutes of Health to affect 100,000 people in the United States. Meyers' son was helped by an experimental drug that the manufa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Branchio-oto-renal Syndrome
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear ( pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome)., updated, 2015, Cause The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Incomplete Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not. A condition, most commonly inherited in an autosomal dominant manner, is said to show complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation. A condition which shows complete penetrance is neurofibromatosis type 1 – every person who has a mutation in the gene will show symptoms of the condition. The penetrance is 100%. Common examples used to show degrees of penetrance are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
G262E
G, or g, is the seventh Letter (alphabet), letter in the Latin alphabet, used in the English alphabet, modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is English alphabet#Letter names, ''gee'' (pronounced ), plural ''gees''. History The letter 'G' was introduced in the History of the Latin alphabet#Old Latin period, Old Latin period as a variant of 'C' to distinguish voiced from voiceless . The recorded originator of 'G' is freedman Spurius Carvilius Ruga, who added letter G to the teaching of the Roman alphabet during the 3rd century BC: he was the first Roman to open a fee-paying school, around 230 BCE. At this time, 'K' had fallen out of favor, and 'C', which had formerly represented both and before open vowels, had come to express in all environments. Ruga's positioning of 'G' shows that alphabetic order related to the letters' values as Greek numerals was a concern even in the 3rd century BC. Ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
R255G
R, or r, is the eighteenth Letter (alphabet), letter of the Latin alphabet, used in the English alphabet, modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is English alphabet#Letter names, ''ar'' (pronounced ), plural ''ars'', or in Ireland ''or'' . The letter is the eighth most common letter in English language, English and the fourth-most common consonant (after , , and ). The letter is used to form the ending "-re", which is used in certain words such as ''centre'' in some varieties of English spelling, such as British English. Canadian English also uses the "-re" ending, unlike American English, where the ending is usually replaced by "-er" (''center''). This does not affect pronunciation. Name The name of the letter in Latin was (), following the pattern of other letters representing continuants, such as F, L, M, N and S. This name is preserved in French language, French and many other languages. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
R254W
R, or r, is the eighteenth letter of the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''ar'' (pronounced ), plural ''ars'', or in Ireland ''or'' . The letter is the eighth most common letter in English and the fourth-most common consonant (after , , and ). The letter is used to form the ending "-re", which is used in certain words such as ''centre'' in some varieties of English spelling, such as British English. Canadian English also uses the "-re" ending, unlike American English, where the ending is usually replaced by "-er" (''center''). This does not affect pronunciation. Name The name of the letter in Latin was (), following the pattern of other letters representing continuants, such as F, L, M, N and S. This name is preserved in French and many other languages. In Middle English, the name of the letter changed from to , following a pattern exhibited in many o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proline
Proline (symbol Pro or P) is an organic acid classed as a proteinogenic amino acid (used in the biosynthesis of proteins), although it does not contain the amino group but is rather a secondary amine. The secondary amine nitrogen is in the protonated form (NH2+) under biological conditions, while the carboxyl group is in the deprotonated −COO− form. The "side chain" from the α carbon connects to the nitrogen forming a pyrrolidine loop, classifying it as a aliphatic amino acid. It is non-essential in humans, meaning the body can synthesize it from the non-essential amino acid L-glutamate. It is encoded by all the codons starting with CC (CCU, CCC, CCA, and CCG). Proline is the only proteinogenic secondary amino acid which is a secondary amine, as the nitrogen atom is attached both to the α-carbon and to a chain of three carbons that together form a five-membered ring. History and etymology Proline was first isolated in 1900 by Richard Willstätter who obtained the amino ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
