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Together, all these data indicate that FGF8 is a transcriptional target of DLX5 and that the SHFM-linked DLX5-Q178P mutant, linked to SHFM-I, looses the capacity to efficiently activate FGF8 expression.
The ORAI1 R91W mutant linked to SCID represents a non-functional CRAC channel due to a defect in gating/permeation rather than in interaction with full-length STIM1 (Navarro-Borelly et al, 2008; Derler et al, 2009).
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Seven mutants linked to an identical cardiac edema phenotype mapped in the same region of Chromosome 6 between 67 and 71 Mbp.
(D ) Tsr2 interacts with eS26 mutants linked to DBA.
The reviewers appear to have inadvertently mistaken our binding analyses for eS26-mutants linked to DBA.
Thus, eS26 mutants linked to DBA are impaired in cytoplasmic processing of 20S pre-rRNA.
(C ) eS26 mutants linked to DBA accumulate 20S pre-rRNA in the cytoplasm.
More studies need to be conducted to determine whether the LMNA mutants linked to progeria affect the function of scaffold nucleoporins.
These data provide a much needed map of the phenotypic complexities due to overexpression of various TDP-43 alleles, including wild-type and several mutants linked to ALS.
The remaining functional categories comprise mutants linked to metabolism (principally of RNA and proteins) and other cellular functions with lower representation in the screening (see Table 1).
Unreduced gamete-producing mutants linked to defects in the meiotic cell cycle machinery have also been recently identified in model plant Arabidopsis thaliana, leading to greater understanding of the mechanisms behind unreduced gamete formation [ 5].
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