The median age of onset regardless of the major clinical phenotype was 52 years, and the survival tended to be shorter for those with ALS (median 3 years) compared with those without (median 6 years).
Using pairwise statistical analysis in combination with significance score-based clustering, we identified 32 novel gene expression signatures, termed disease modules, associated with major clinical AMD phenotypes as well as two potential pre-AMD phenotypes.
Our results suggest that HR status remains a major driver of clinical phenotype, even among HER2-positive patients.
Beta-thalassemia (thal) is an inherited autosomal recessive disorder due to reduction or absence of the hemoglobin β-globin chain synthesis, and it presents in one of three clinical phenotypes, namely, thalassemia major, minor, and intermedia.
Thus, although our study in chronic stage of EAE does not necessarily address early molecular events that control susceptibility, a possibility to correlate gene expression with clinical phenotypes provides a major benefit in defining genes and pathways that are related to the disease (and not just a consequence of genetically driven expression differences between the strains).
Comorbid affective disorders like major depression might facilitate a switching between clinical phenotypes.
In summary, it appears that not one single major factor is responsible for the different clinical phenotypes in X-ALD.
Basal and claudin-low breast cancers present a major clinical challenge, as their frequent triple-negative phenotype (lacking HER2, oestrogen and progesterone receptors) confers intrinsic resistance to HER2-targeted and endocrine therapy [ 12].
Beta-thalassemia/HbE is a major thalassemia problem in Thailand and can be associated with various clinical phenotypes ranging from mild thalassemia intermedia to severe transfusion dependent thalassemia major.
Nevertheless, advances in understanding the variability in clinical phenotype and in developing novel therapeutic concepts is beginning to address the major clinical challenges of this mysterious disorder.
