Women aged 35 49 years at high risk of breast cancer, either because they have a strong family history of breast cancer or are tested carriers of a BRCA1, BRCA2 or TP53 mutation or are at a 50% risk of having inherited such a mutation, were recruited from 22 centres and offered annual MRI and XRM for between 2 and 7 years.
PSTPIP1 molecules with PAPA-associated mutations are recruited by pyrin to ASC specks with particularly high efficiency, suggesting a unique mechanism underlying the robust inflammatory phenotype of PAPA syndrome.
Forty-five patients with FRMD7 mutations were recruited for subsequent high-resolution retinal phenotyping using optical coherence tomography.
Subjects with presymptomatic PSEN1 mutations were recruited from a large cohort that has participated in our studies since 1985 [ 20].
A 29-year-old woman with known homozygous intronic ISCU mutations was recruited for study (Sanaker et al, 2010).
Cases with early onset or familial breast cancer, free from BRCA1/2 mutations, were recruited at the genetic counselling clinic in Silesia between 1997 and 2006.
In the second scenario, the first one is made by the processive DNA polymerase, pol III, and the second mutation occurs after a bypass polymerase is recruited.
Interestingly, SMRT is recruited to PPARγ via its C-terminal interacting domain, and mutation of the proximal interacting domain does not interfere with recruitment via PPARγ.
However, for modeling purposes, all available mutation carriers were recruited to obtain a relatively homogeneous group of subjects at risk of developing DCM.
HBM LRP5 mutation carriers were recruited from the UK-based HBM study cohort (Gregson et al., 2012) (see Supplemental Information).
We used the information available before 2003, with the exception of information about four eligible families segregating a deleterious BRCA1/ BRCA2 mutation, which were recruited by July 2003.
