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TBX22
T-box transcription factor TBX22 is a protein that in humans is encoded by the ''TBX22'' gene. TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, cleft palate with ankyloglossia (tongue-tie), and it is believed to play a major role in human palatogenesis. It has previously been mapped to the long arm of the X chromosome and it has now been demonstrated that mutations in the gene TBX22 are the cause of this syndrome. TBX22 mutations also result in non-syndromic cleft palate in some populations. TBX22 is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH2-terminal region which has the unique feature of missing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
T-box
T-box refers to a group of transcription factors involved in embryo, embryonic limb development, limb and heart development. Every T-box protein has a relatively large DNA-binding domain, generally comprising about a third of the entire protein that is both necessary and sufficient for sequence-specific DNA binding. All members of the T-box gene family bind to the "T-box", a DNA consensus sequence of TCACACCT. Members T-boxes are especially important to the development of embryos, found in zebrafish oocyte by Bruce et al 2003 and ''Xenopus laevis'' oocyte by Xanthos et al 2001. They are also gene expression, expressed in later stages, including adult mouse and rabbit studied by Szabo et al 2000. Mutations in the first one found caused short tails in mice, and thus the protein encoded was named brachyury, Greek for "short-tail". In mice this gene is named ''Tbxt'', and in humans it is named ''T-box transcription factor T, TBXT''. Brachyury has been found in all bilaterian animal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ankyloglossia
Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease the mobility of the tongue tip and is caused by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. Ankyloglossia varies in degree of severity from mild cases characterized by mucous membrane bands to complete ankyloglossia whereby the tongue is tethered to the floor of the mouth. Definition Tongue-tie is "a condition that impairs tongue movement due to a restrictive lingual frenulum". As of 2025, no definition, classification system, diagnostic parameters and therefore no definite management parameters have been generally accepted. Cause The cause for tongue tie is unknown. While rearch suggests that tongue-tie could be heritable, most people with it have no inborn diseases. There are associations between X-linked cleft palate syndrome and rare syndromes, including Kindler syndrome, Opitz syndrome, and Van Der Woud ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palindromic
A palindrome ( /ˈpæl.ɪn.droʊm/) is a word, number, phrase, or other sequence of symbols that reads the same backwards as forwards, such as ''madam'' or '' racecar'', the date " 02/02/2020" and the sentence: "A man, a plan, a canal – Panama". The 19-letter Finnish word ''saippuakivikauppias'' (a soapstone vendor) is the longest single-word palindrome in everyday use, while the 12-letter term ''tattarrattat'' (from James Joyce in '' Ulysses'') is the longest in English. The word ''palindrome'' was introduced by English poet and writer Henry Peacham in 1638.Henry Peacham, ''The Truth of our Times Revealed out of One Mans Experience'', 1638p. 123 The concept of a palindrome can be dated to the 3rd-century BCE, although no examples survive. The earliest known examples are the 1st-century CE Latin acrostic word square, the Sator Square (which contains both word and sentence palindromes), and the 4th-century Greek Byzantine sentence palindrome ''nipson anomemata me monan o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ulnar–mammary Syndrome
Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous (or skin) condition characterized by nipple and breast hypoplasia (or aplasia), i.e. underdevelopment. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the apocrine and mammary glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. Genetics It has been associated with TBX3. This gene is located on the long arm of chromosome 12 (12q24.21). Another gene that has been associated with this condition ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Holt–Oram Syndrome
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. It affects approximately 1 in 100,000 people. Presentation All people with Holt-Oram syndrome have at least one abnormal wrist bone, which can often only be detected by X-ray. Other bone abnormalities are associated with the syndrome. These vary widely in severity, and include a missing thumb, a thumb that looks like a finger, upper arm bones of unequal length or underdeveloped, partial or complete absence of bones in the forearm, and abnormalities in the collar bone or shoulder blade. Bone abnormalities may affect only one side of the body or both sides; if both sides ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Drosophila
''Drosophila'' (), from Ancient Greek δρόσος (''drósos''), meaning "dew", and φίλος (''phílos''), meaning "loving", is a genus of fly, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies (sometimes referred to as "true fruit flies"); tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly. One species of ''Drosophila'' in particular, ''Drosophila melanogaster'', has been heavily used in research in genetics and is a common model organism in developmental biology. The terms "fruit fly" and "''Drosophila''" are often used synonymously with ''D. melanogaster'' in modern biological literatur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organogenesis
Organogenesis is the phase of embryonic development that starts at the end of gastrulation and continues until birth. During organogenesis, the three germ layers formed from gastrulation (the ectoderm, endoderm, and mesoderm) form the internal organs of the organism. The cells of each of the three germ layers undergo differentiation, a process where less-specialized cells become more-specialized through the expression of a specific set of genes. Cell differentiation is driven by cell signaling cascades. Differentiation is influenced by extracellular signals such as growth factors that are exchanged to adjacent cells which is called juxtracrine signaling or to neighboring cells over short distances which is called paracrine signaling. Intracellular signals – a cell signaling itself ( autocrine signaling) – also play a role in organ formation. These signaling pathways allow for cell rearrangement and ensure that organs form at specific sites within the organism. The organogen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morphogenesis
Morphogenesis (from the Greek ''morphê'' shape and ''genesis'' creation, literally "the generation of form") is the biological process that causes a cell, tissue or organism to develop its shape. It is one of three fundamental aspects of developmental biology along with the control of tissue growth and patterning of cellular differentiation. The process controls the organized spatial distribution of cells during the embryonic development of an organism. Morphogenesis can take place also in a mature organism, such as in the normal maintenance of tissue by stem cells or in regeneration of tissues after damage. Cancer is an example of highly abnormal and pathological tissue morphogenesis. Morphogenesis also describes the development of unicellular life forms that do not have an embryonic stage in their life cycle. Morphogenesis is essential for the evolution of new forms. Morphogenesis is a mechanical process involving forces that generate mechanical stress, strain, and mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xenopus
''Xenopus'' () (Gk., ξενος, ''xenos'' = strange, πους, ''pous'' = foot, commonly known as the clawed frog) is a genus of highly aquatic frogs native to sub-Saharan Africa. Twenty species are currently described within it. The two best-known species of this genus are '' Xenopus laevis'' and '' Xenopus tropicalis'', which are commonly studied as model organisms for developmental biology, cell biology, toxicology, neuroscience and for modelling human disease and birth defects. The genus is also known for its polyploidy, with some species having up to 12 sets of chromosomes. Characteristics ''Xenopus laevis'' is a rather inactive creature. It is incredibly hardy and can live up to 15 years. At times the ponds that ''Xenopus laevis'' is found in dry up, compelling it, in the dry season, to burrow into the mud, leaving a tunnel for air. It may lie dormant for up to a year. If the pond dries up in the rainy season, ''Xenopus laevis'' may migrate long di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Notochord
The notochord is an elastic, rod-like structure found in chordates. In vertebrates the notochord is an embryonic structure that disintegrates, as the vertebrae develop, to become the nucleus pulposus in the intervertebral discs of the vertebral column. In non-vertebrate chordates a notochord persists. The notochord is derived from the embryonic mesoderm and consists of an inner core of vacuolated cells filled with glycoproteins, covered by two helical collagen-elastin sheaths. It lies longitudinally along the rostral-caudal (head to tail) axis of the body, dorsal to the gut tube, and ventral to the dorsal nerve cord. Some chordate invertebrates, such as tunicates, develop a notochord during the larval stage but lose it through subsequent stages into adulthood. The notochord is important for signaling the dorso-ventral patterning of cells coming from the mesodermal progenitors. This helps form the precursors needed for certain organs and the embryo to develop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
