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From this joint effort, major pathogenic pathways emerged.
Two major pathogenic pathways have been established in these syndromes: hypoxia pathway (VHL and PGL syndromes) and the pathway involving Ras and mechanistic target of rapamycin (mTOR) activation (MEN2 and NF1).
Among these, we showed that the pathways of infection and inflammatory response, extra cellular matrix (ECM -receptor intECM -receptoroptosinteractionstoskeleton, apoptosish muscle contractinn are the major pathogenicytoskeletonnvolved in the development of PPROM.
The implication of autophagy in two major pathogenic pathways in SLE suggests the potential to use inhibition of autophagy as a novel treatment target in this frequently severe autoimmune disease.
By the comparison of SDH/VHL- and MEN2/NF1-related PCC, representing the two major pathogenic pathways of PCC, the overexpression of genes involved in IGF1 signaling in MEN2/NF1-related tumors has turned out as the most significant pathway.
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Despite the apparent heterogeneity in these MNDs (considered below in greater detail for SMA, ALS and HSP in turn, where we describe the major causative genes), several pathogenic pathways are common among at least two of these three diseases (summarized in Fig. 1).
We demonstrated that the degradation of functional ZIP13 proteins by the VCP-linked ubiquitin proteasome pathway is the major pathogenic consequence of these mutations and that the resultant disturbance of intracellular Zn homeostasis can cause SCD-EDS (Fig 7).
Bacillus remains the major pathogenic bacterium isolated in majority of areas for Bombyx mori [17].
Particularly, activation of oncogenic KRAS and PI3K pathways and inactivation of tumor suppressor genes PTEN and ARID1A are suggested as major pathogenic mechanisms for endometriosis associated clear-cell and endometrioid ovarian cancer.
For example, regarding the latter issue, Plotkin et al. have recently shown that, although reduced BDNF availability in the striatum may contribute to HD pathology, a major pathogenic mechanism seems to rely on an aberrant BDNF signaling via p75 neurotrophin receptors located on indirect-pathway MSNs, which adds to the previously reported alterations of BDNF signaling via TrkB.
One of the pathogenic pathways being suggested is the immune responses to self-antigens such as collagen type I, a major component of the periodontium.
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