Words similar to autosomal
Example sentences for: autosomal
How can you use “autosomal” in a sentence? Here are some example sentences to help you improve your vocabulary:
Menasche et al . [ 74 ] found mutations in the Rab27A gene in 16 patients with Griscelli's syndrome, an autosomal recessive disorder characterized by defects in skin pigmentation and T-lymphocyte and macrophage activation.
MENI results from mutations in menin, a regulator of TGFβ signaling in a variety of tissues [ 8 ] . MENIIA results form mutations in RET a cell surface growth factor receptor with intrinsic tyrosine kinase activity [ 9 ] . Familial hypocalciuric hypercalcemia (#145980), generally autosomal dominant and caused by mutations in the renal calcium sensing receptor [ 10 11 ] , is excluded rather easily based on urinary calcium levels of the patient and parents.
These target proteins include the c-Abl tyrosine kinase, the p53 tumor suppressor, the Chk1 and Chk2 serine/threoine kinase, the p34 subunit of replication protein A (RPA), Chk1 serine/threoine kinase and NBS1 kinase which is mutated in human autosomal recessive disease Nijmegan breakage syndrome [ 16 17 18 19 20 21 22 23 ] . Clinical characteristics of AT patients include hypersensitivity to irradiation, thymic dysplasia, immune defects and higher tendency to develop malignant tumor, suggesting that ATM function is critical in DNA damage repair and tumor suppression.
glucose disposal rate at pharmacological insulin levels) was found to be determined by a co-dominantly inherited autosomal gene [ 3].
Atrial fibrillation segregates as an autosomal dominant disease characterized by atrial fibrillation on an electrocardiogram [ 1 ] . We diagnosed atrial fibrillation in five families from Spain in which the arrhythmia was the primary manifestation and not associated with any gross cardiac or metabolic abnormality [ 1 ] . Genetic linkage analysis was performed and the locus responsible for atrial fibrillation in our family was mapped to 10q22 between markers D101786 and D10S1630, an area of about 11 cM [ 1 ] . We proceeded with the candidate gene approach and DLG5 was on of the genes mapped to the critical region between the flanking markers [ 2 ] . This gene belongs to the MAGUK (Membrane Associated Gyanylate Kinase) family of proteins known to form scaffolds for proteins involved in intracellular signal transduction [ 2 ] . The MAGUK family of proteins has been extensively studied in recent years and shown to play a role in the formation of cell junctions, maintenance of cell shape, [ 3 4 5 ] and clustering of channel proteins at the cell surface [ 6 7 8 ] . Given its location in our critical region and its function it was selected as a candidate for atrial fibrillation.
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