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Sickle cell anemia (SCA) is characterized by a marked endothelial dysfunction, owing to many factors.
To investigate the stable genetic cause responsible for the survival adaptation to mitochondrial dysfunction owing to CoQ10 deficiency.
The mitochondrial dysfunction owing to CoQ10 deficiency induces a stable survival adaptation of somatic cells in patients at early or postnatal development by epigenetic modifications of chromatin.
To address the in vivo role of CHK2 in signaling telomere dysfunction owing to Trf1 deficiency, we crossed Trf1 Δ/Δ K5Cre mice (Martinez et al., 2009) with mice with whole-body Chk2 deletion, Chk2 −/− (Hirao et al., 2002).
Here, we studied the role of the checkpoint kinase Chk2 in mediating the in vivo phenotypes induced by telomere dysfunction owing to either critical telomere shortening (Terc deficiency) or severe telomere uncapping (Trf1 deficiency).
In the chronic phase of Chagas disease, TNF- α seems to be closely related to cardiac dysfunction owing to its negative inotropic effect, in both experimental models [ 38] and humans [ 39].
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AVP may cause myocardial dysfunction probably owing to direct myocardial effects, including coronary vasoconstriction [18].
However, production of pikeperch in aquaculture is impeded by a shortage of fingerlings due to reproductive dysfunctions, predominantly owing to the stagnation of puberty, asynchronous maturation and low gamete quality.
Transient left ventricular (LV) contractile dysfunction is observed owing to postexercise stunning in patients with CAD.
Dysfunction of DNAJC5 owing to mutations at a crucial lysine position leads to its reduced palmitoylation and hence abnormal sorting and localization of DNAJC5, which colocalized ER and Golgi markers (Nosková et al., 2011).
Regarding the heart, each IP3R1, IP3R2, and IP3R3 single-mutant mouse showed normal cardiogenesis, in contrast to the ryanodine receptor type 2 single-mutant mouse, which showed embryonic lethality owing to dysfunction of the SR in the embryonic cardiomyocyte [7].
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Justyna Jupowicz-Kozak
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