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Rotator cuff tears affect up to 50% of patients older than 50 years and are a common cause of function-limiting pain and weakness of the shoulder (Isaac et al. 2012).
BRIL and PEDF are related, and it appears that mutations causing gain-of-function of BRIL cause OI type V and that those causing loss-of-function of BRIL look phenotypically like OI type VI.
Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function).
In contrast to PPCD-causing mutations, all of which are null, FCD-associated mutations encode rare missense changes suggested to cause loss of function by an in vivo complementation assay.
In fact, the average human family carries hundreds of mutations that cause loss of function.
Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.
Hence, it is clear that the cell behavior in 2D and 3D environments is very different and that exposure of hMSCs to 2D substrates may cause loss of function because of a change in cell shape and polarity.
Adoptive transfer of perforin-deficient SCILs did not cause loss of function in hosts at any time point.
Mutations in these CCM loci cause loss of function of these proteins and result in CCM [7] [16], [17], [23].
This mutation they found was different from the one we identified but was also predicted to cause loss of function.
An inappropriate length of the hinge can cause loss of function.
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