Sentence examples for mutations is characterized from inspiring English sources
The interstitial lung disease associated with the TERT mutations is characterized uniformly by dyspnea and a decreased diffusion capacity.
This is in line with earlier observations which show that DCM caused by LMNA mutations is characterized by diminishing left ventricular contractility while simultaneously the left ventricular end diastolic dimension may enlarge only modestly or does not fulfill formal criteria of DCM at all [14].
Familial steroid-resistant nephrotic syndrome (SRNS) caused by autosomal recessive NPHS2 mutations is characterized by early-onset proteinuria in childhood and resistance to immunosuppressive therapy [ 3].
For example, growth hormone deficiency, which is sometimes caused by genetic mutations, is characterized by both short stature and cognitive impairments (van Dam et al. 2005).
These developmental analyses demonstrate that the most profound phenotype caused by Nde1 mutations is characterized by DNA damage and apoptosis, and that this phenotype is spatiotemporally in parallel to the early differentiation period of neural progenitors.
This stems from the 'long-tail phenomenon' which states that cancer mutations are characterized by a small number of frequently mutated genes and a large number of infrequently mutated genes [ 18, 19].
The GAG binding profile of the mutated full length chemokine (γ-m1, which includes these 9 mutations), was characterized.
Mycobacterium tuberculosis NHEJ proteins Ku and ligase D (LigD) were expressed in E. coli cells in the presence or absence of HR, and the Z-DNA-induced mutations were characterized.
The brains of patients with progranulin mutations are characterized by nuclear and cytoplasmic inclusions that contain TDP-43 that is aberrantly cleaved, phosphorylated and ubiquitinated [11], [12].
Surprisingly, this analysis revealed that patients carrying B-RAF mutations had an impaired survival, whereas patients with N-RAS mutations were characterized by a favorable prognosis, each in comparison with the wildtype gene status.
Phenotypically, the asymptomatic heterozygous carriers of FMF mutations are characterized by the elevated levels of markers of inflammation such as CRP, SAA, and INF-γ [53], [54] and by specific glycosylation of AGP [55].
