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These syndromes are caused by gene mutations affecting diverse cellular pathways but all resulting in premature failure of hematopoiesis.
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(1) Disease-causing TRPV4 mutations affect diverse regulatory mechanisms, converging to bone or neuron-related phenotypes in how they ultimately affect TRPV4 activity.
Mutations in LMNA encoding lamins A and C are associated with at least 10 different degenerative disorders affecting diverse tissues, collectively called laminopathies.
Our bioinformatics approach undertaken in this study provides a new insight as to how a single gene mutation may affect diverse molecular functions, such as RNA metabolism, translation initiation, and cytoskeletal dynamics leading to complex disease.
Maize (Zea mays L). has a long history of genetic research, and consequently a diverse collection of mutations affecting a broad range of biological processes has accumulated (Neuffer et al., 1997).
Consequently, mutations affecting the function of MICOS are responsible for a diverse spectrum of human diseases.
But what interests him most is homing in on the mutations affecting the cilia.
We hypothesise a higher frequency of mutations affecting smokers.
Mutations affecting the DGC cause muscular dystrophies.
Hence, mutations affecting mitochondrial structure also affect metabolism.
However, taken together with a recent report that mutations affecting the epigenetic factor SETD2 are associated with loss of histone H3 lysine 36 tri-methylation (H3K36me3) and increased intron retention in clear cell renal cell carcinoma [ 19], our results suggest that crosstalk between epigenetics and RNA splicing may link a diverse spectrum of mutations to RNA processing defects in cancer.
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