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The low-copy repeat (LCR) is a new class of repetitive DNA element and has been implicated in many human disorders, including DiGeorge/velocardiofacial syndrome (DGS/VCFS).
Although some aspects of cognition are unique to humans, the Oxford team, in common with other neuroscientists, believe primate research can give important insights into many human disorders.
In addition, zebrafish mutations are usually faithful phenocopies of many human disorders [5].
Imprinted genes are important for development and behaviour and disruption of their expression is associated with many human disorders [28].
ER stress or the UPR contributes to the pathophysiology of many human disorders that demonstrate contrasting outcomes, such as the promotion of cell survival in cancer [32], slowing down of cell proliferation in intrauterine growth restriction [12], and facilitation of apoptosis in neurodegenerative diseases [33].
Expansions of poly glutamine repeats (polyQ) are encountered in many human disorders, including in Huntington's disease.
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SDF-1 was also upregulated in the tissues of many human skin disorders including psoriasis, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC).
TGF-β is implicated in many human fibrotic disorders.
The progression of many human neurodegenerative disorders is associated with an accumulation of alpha-synuclein.
The intracellular aggregation of polypeptides is a pathogenic feature of cellular degeneration in many human degenerative disorders [1], [2], [3].
Hearing impairment is one of the most prevalent sensorineural defects in humans and in the last years many human ear disorders have been linked to mutations in over a hundred different genes [32], [33].
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