Sentence examples for mutations causing both from inspiring English sources

Little is known about the phenotype of families with double mutations causing both HNPCC and HBOCS.

The fact that LRRK2 mutations cause both familial and apparently sporadic forms of PD with typical clinical symptoms and late age-at-onset [51] highlights the significance of age as a causative factor for both familial and idiopathic PD.

Whereas in maize bm1 lines no difference in overall lignin was reported, in sorghum CAD deficient bmr-6 mutations cause both a decrease in lignin and an increase in cinnamyl aldehydes [28], [29].

These data contribute to our understanding of the molecular basis of the delayed maturation of the sensory epithelium reported in IGF-I deficit [17], extending the actions of this factor and highlighting a relationship with the Usher' syndrome molecules Ush1c [32], Rp1h [34] and Tub [35] whose mutations cause both deafness and blindness in men (ORPHA120433, ORPHA886).

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies.

For example, TMEM216 mutations cause both MKS and JBTS (Valente et al., 2010), whereas mutations in MKS1, TMEM67 and CEP290 also underlie Bardet-Biedl syndrome (BBS).

The discovery that sarcomere gene mutations cause both HCM and DCM was a landmark event that characterized inherited heart disease at the molecular level.

Although NRAS mutations cause both PI3K/AKT and MAPK pathway activation (Tsao et al, 2000), it remains to be determined if activation of the PI3K pathway is prognostic in melanoma.

This mutation causes both FJHN and MCKD.

GPR56 mutation causes both PMG and a cobblestone like pathology [ 31] and also involves the cerebellum.

Whatever the explanation, the RG mutation causes both loss of function (failure to be activated by AMP) and gain of function (increased basal activity).