Finally, given the sample size and the lack of evidence for protein function, the result of our analysis of associations between genomic characteristics and the onset of PD subtypes should be interpreted with caution and will require further research in future cohorts. In summary, we provided a ...
Converging evidence increasingly implicates shared etiologic and pathophysiological characteristics among major psychiatric disorders (MPDs), such as schizophrenia (SZ), bipolar disorder (BD), and major depressive disorder (MDD). Examining the neurobiology of the psychotic-affective spectrum may greatly advanc...
Multiple sclerosis is a chronic autoimmune disorder of the central nervous system. In MS, the genetic susceptibility is high and currently there is no effective treatment. MicroRNA, a small non-coding RNA, plays a vital role in immune responses. Aberrant or dysfunctional miRNAs may cause several...
Understanding the pathological characteristics of NTDs is crucial for guiding research into prevention strategies, prenatal diagnosis, and potential interventions aimed at minimizing the impact of these debilitating congenital malformations. We found that neuroinflammation, a complex process involving the activati...
Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likely significantly underdiagnosed. Several approaches, including provider education efforts and newborn...
Therefore, FH diagnosis in the majority of cases is made by combining cholesterol levels and clinical characteristics of the patient leaving the need for genetic testing usually in equivocal cases. The presence of some cutaneous and ocular signs can raise the suspicion or even lead to the ...
Baseline characteristics are displayed in Table 1. The median (IQR) age was 32 (19-47) years, 619 583 participants (52.6%) were women, and 763 713 participants (64.8%) were white. The median TC was 183 (IQR, 157-212) mg/dL, and the median number of donations was 1 (IQR, 1...
Suicidal behavior is a complex disorder, with evidence for genetic risk independent of other genetic risk factors including psychiatric disorders. Since 1996, over 3000 DNA samples from Utah suicide decedents have been collected and banked for research u
Demographic characteristics of the BD subgroups based on clinical patterns and diagnostic subtypes To numerically balance individual pairs of fewer and more occurrences groups with different clinical patterns, patients were categorized on the basis of low (n = 43, less than 10 times) and high ...
a mutation that is positively associated with peripheral neurological disease typically co-segregates with family members exhibiting peripheral neuropathy. The following characteristics are supportive, but are not required for a genetic mutation to be a causative mutation for peripheral neurological disease:...