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Pelger–Huët anomaly is a blood laminopathy associated with the lamin B receptor, [2] wherein several types of white blood cells (neutrophils and eosinophils) have nuclei with unusual shape (being bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy).
Titin [5] / ˈ t aɪ t ɪ n / (contraction for Titan protein) (also called connectin) is a protein that in humans is encoded by the TTN gene. [ 6 ] [ 7 ] The protein, which is over 1 μm in length, [ 8 ] functions as a molecular spring that is responsible for the passive elasticity of muscle .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Abnormalities in the electrical activity of the heart are common in DM1, manifesting as arrhythmias or conduction blocks. [2] Sometimes, dilated cardiomyopathy occurs. [2] Symptoms onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms.
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
Obscurin has been shown to interact with Titin, [5] [31] specifically, with the Novex-3 of Titin, a 6.5 kb exon located upstream of the cardiac-specific N2B exon. [32] The C-terminal region of Obscurin interacts with the cytoplasmic domain of small ankyrin 1 [ 33 ] [ 34 ] and with the exon 43' region of ankyrin B . [ 35 ]
Larsen syndrome can also cause a variety of cardiovascular [3] and orthopedic abnormalities. [4] This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton . [ 5 ]
MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome.MASS stands for mitral valve prolapse, aortic root diameter at upper limits of normal for body size, stretch marks of the skin, and skeletal conditions similar to Marfan syndrome.