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salm and salr null mutations affect several tissues, including the tracheal system [ 12], CNS [ 13] and the peripheral nervous system [ 14], and are embryonic lethal in homozygosis.
These mutations affect several phosphorylation sites (Supplementary Table 2; Fig. 1), which may result in differences in receptor internalisation and regulation of its activity (Hicke et al., 1998).
Human ZFP57 mutations affect several maternally methylated ICRs while inactivation of the mouse Zfp57 causes imprinting defects at both maternally and paternally methylated loci.
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Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children with autism spectrum disorder/intellectual disability versus healthy controls revealed focal genomic mutations affecting several lncRNA candidate loci.
Trans-silencing was previously shown to be strongly impaired by mutations affecting several components of the piRNA silencing pathway (AUBERGINE, ARMITAGE, HOMELESS, PIWI) [8], [33].
Mutations affecting several proteins in slit diaphragms, including nephrin and podocin (encoded by NPHS1 and NPHS2, respectively), lead to glomerular disease owing to disruption of slit diaphragms [2], [5] [7].
The end of the region #12 was localized 150 kb upstream of GHR (33.89 34.20 on BTA20) (Figure 4D) within which a mutation affecting several milk production traits in HOL [22] and Finnish Ayrshire [23] breeds has been reported.
Thus, the myostatin loss-of-function mutation affected several physiological processes involved in the development and determination of the functional characteristics of muscle tissue.
These data reveal that the WT and mutant 6 RNA have similar secondary structures (consistent with the EDTA-containing native gels, Figure 9C) but indicate that the C10320→G mutation affects several structural elements and changes the global fold of the RNA (consistent with the MgCl2-containing native gel Figure 9C).
Understanding the relationship between phenotype and underlying genetic lesion is made more complex by the extensive alternative splicing of AMELX such that a point mutation could potentially affect several different amelogenin proteins but have no effect on others.
Certain mutations were identified to affect several functional pathways.
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