Estimates of the residual secondary structure present in WT SNase delta, as well as both the m+ and m-substituted versions of SNase delta, as determined by CD, suggest that the formation of secondary structure and compaction of the polypeptide chain occur concurrently. Our results show that ...
progressive ANSD with postlingual onset. We identified that sensorineural hearing loss (SNHL) in CAPOS syndrome (OMIM #601388), comprising of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and hearing loss31,32,33,34,35,36,37, can fit into the category of ANSD and manifest...
Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the GJA1 gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were...
In this model, genetic mutations are continuously generated and gradually selected for differential fitness of daughter cells in tumor growth. However, growing evidence indicates that diverse genetic alterations may occur early in bursts in many types of cancers and their pervasive distributions in ...
There are, however, data to support the hypothesis of allelic risk heterogeneity, such that different mutations confer different risks. Specifically, BRCA2 mutations that occur in families with one or more cases of ovarian cancer tend to cluster in a central portion of the gene, termed the “...
Spontaneous germline mutations generate genetic diversity in populations of sexually reproductive organisms and are thus regarded as a driving force of evolution. However, the cause and mechanism remain unclear. 8-oxoguanine (8-oxoG) is a candidate molecule that causes germline mutations, because it ...
The spindle and epithelioid cell nevi occur in adults rarely but should not be confused with malignant melanomas. One criteria for differentiation is the homogeneity of the spindle cell nevus. Twenty-six of these lesions in adults were e... R Echevarria,LV Ackerman - 《Cancer》 被引量: 116...
When novel beneficial mutations arise in independent lineages and these lineages have similar fitness, a ‘Battle Royale’ ensues, producing clonal interference [18,20,24,25,26]. Clonal interference can also occur within a broader framework of stable subpopulation structure [27], especially if lineag...
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Particularly, a high level of TNF-α was proposed to play an important role in disease progression [62]. In SAMP6 mice, it is expected that up-regulation of TNF-α expression in the colon would occur due to activation of Th1 cells. Thus, both of these pathogenic phenotypes, osteoporosis ...