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Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. [2] For example, some hypermobile people can bend their thumbs backwards to their wrists and bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the ...
Linkage analysis and chromosomal rearrangement revealed the cause of SCS to be mutations in the TWIST gene (twist transcription factor gene) located on chromosome 7p21. The TWIST gene encodes a basic helix-loop-helix (b-HLH) transcription factor that controls head mesenchyme development as the cranial tube forms. More than 35 varying TWIST ...
A pronounced double minimum at 208 and 222 nm indicate α-helical structure, whereas a single minimum at 204 nm or 217 nm reflects random-coil or β-sheet structure, respectively. A less common method is infrared spectroscopy , which detects differences in the bond oscillations of amide groups due to hydrogen-bonding.
Ball and Stick Model of Double Helical DNA. A molecular lesion or point lesion is damage to the structure of a biological molecule such as DNA, RNA, or protein.This damage may result in the reduction or absence of normal function, and in rare cases the gain of a new function.
The mutations cause a decrease in secretion of trimeric procollagen molecules. Other mutations in this gene can cause autosomal recessive Bruck syndrome, which is similar to OI. [72] Type XII – OI caused by a frameshift mutation in SP7 on chromosome 12q13.13. This mutation causes bone deformities, fractures, and delayed tooth eruption. [73]
A herringbone gear, a specific type of double helical gear, [1] is a side-to-side, rather than face-to-face, combination of two helical gears of opposite hands. [2] From the top, each helical groove of this gear looks like the letter V, and many together form a herringbone pattern (resembling the bones of a fish such as a herring ).
A long bone is one that is cylindrical in shape, being longer than it is wide. However, the term describes the shape of a bone, not its size, which is relative. Long bones are found in the arms (humerus, ulna, radius) and legs (femur, tibia, fibula), as well as in the fingers (metacarpals, phalanges) and toes (metatarsals, phalanges).
The N-terminus begins with one beta sheet composed of strands 1, 2, 3, and 4, followed by a helix-turn-helix motif of the two alpha helices, αA and αB, which continues into strands 5, 6, 7, and ending with one alpha-helical stalk at the C-terminus. αA and αB are perpendicular to one another, and because one end of αB is partially inserted ...