Sentence examples for mutations causing cystic from inspiring English sources

Strikingly, the allelic frequency of mutations causing cystic fibrosis is comparable to the frequency of heterozygous TPI mutations in the examined Afro-American population [6], [73].

Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride transport of CFTR in 9 of 10 known gating mutations causing cystic fibrosis.

By contrast, when the truncated proteins are (partially) functional, as is the case with some PTC mutations causing cystic fibrosis (CF), Duchenne muscular dystrophy (DMD) and some types of cancer, NMD can aggravate the disease phenotype (Holbrook et al, 2004, 2006; Karam et al, 2008; Bhuvanagiri et al, 2010).

CFTR is a polytopic plasma membrane chloride channel in which mutations cause cystic fibrosis [64].

The most common mutation causing cystic fibrosis (CF) is deletion of phenylalanine residue 508 in the cystic fibrosis transmembrane regulator conductance (CFTR) protein.

Interestingly, RNASET2 has been shown to be involved in cancer suppression and loss of function mutation causes cystic leukoencephalopathy (Acquati et al., 2011; Henneke et al., 2009).

In the fetal kidney, the PCP pathway is considered to set a limit on the diameter of differentiating tubules because Wnt9b mutation causes cystic kidneys, perturbing the normal CE-like rearrangement of existing epithelial cells during tubule elongation and narrowing (42).

Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride (Cl−) transport of CFTR in 9 of 10 known gating mutations and in R117H mutation (class IV) causing cystic fibrosis.

Screening an ethnically diverse US population sample (N = 364,890) for 87 different CFTR mutations responsible for causing cystic fibrosis yielded a combined carrier frequency of 2.6%% (Rohlfs et al. 2011).

Because cilia play a central role in pathogenesis of hereditary cystic kidney diseases (because most mutations causing hereditary cystic kidney diseases affect genes which encode for cilia proteins), it is tempting to compare our observations with existing polycystic kidney disease (PKD) literature.

"This is really all about consumer choice at the end of the day,'' said Ryan Phelan, chief executive of DNA Direct, a San Francisco company that offers generally well-established tests, like for genetic mutations that cause cystic fibrosis.