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The significance of these syndromal DOA variants was recently highlighted by the identification of cytochrome c oxidase (COX -deficient musCOX -deficient musclele mtDNA deletions in skeletal muscle biopsies fibreshese pandents, imultipleng a previously unsuspected role of OPA1 in mtDNA maintenance (Amati-Bonneau et al., 2008; Hudeletionsl., 2008; Zevinni, 2008).
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PRDM5 may also have other disease-linked functions: two PRDM5 sequence variants were recently found in a study of neutropenic patients that lacked mutations in genes associated to hereditary neutropenia, such as ELA2 and GFI1 [15].
Similarly, four new genetically divergent SHFV variants were recently identified in a single male colobus monkey (Procolobus rufomitratus tephrosceles) and in African red-tailed (guenon) monkeys (Cercopithecus ascanius) from Kibale National Park, Uganda.
Such S. aureus variants were recently shown to efficiently invade endothelial cells in vitro and display a markedly higher content in fibronectin-binding proteins than the parental strain [ 39].
In addition to the patient‐ and treatment‐related factors reported by previous studies, including Karnofsky performance status (KPS), chronic lung disease, smoking status, chemotherapy, dosimetric parameters, and plasma values of TGF β 5, 7, 8, 9, 10, 11, some genetic variants were recently found to be associated with the occurrence and development of RP 12, 13.
C-reactive protein (CRP) gene variation, in particular an rs2794521 variant was recently associated with type 2 diabetes mellitus (T2DM) in Pima Indians.
This variant was recently shown to be highly expressed in adult testis, mainly in spermatocytes [ 29].
Interestingly, this variant was recently found associated to increased level of uromodulin both at transcript and at protein level [33].
The A49T variant was recently associated with 2.5 to 3.28-fold increased risk of prostate cancer (PC) in African-American and Hispanic men (Makridakis et al, 1999).
This HP1 variant was recently shown to bind specific regions in the cluster 1/42AB and promote the transcription of dual-strand piRNA clusters (Klattenhoff et al, 2009).
An infectious and replication-competent HML-2 variant was recently engineered from a consensus sequence of evolutionarily young HML-2 loci [ 23, 24].
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