Complex disorders
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The process of neural stem cell (NSC) differentiation into neurons is crucial for the development of potential cell-centered treatments for central nervous system disorders. However, predicting, identifying, and anticipating this differentiation is complex. In this study, we propose the implementation of a convolutional neural network model for the predictable recognition of NSC fate, utilizing single-cell brightfield images.
7p vithomson 02-07-2024 0 0 Download
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Sepsis has a complex pathophysiology with several diverse and nonspecific mechanisms. Objective: To investigate humoral immune disorders and some related factors in the prognosis of 28-day mortality in children with sepsis.
9p viwalton 29-06-2024 2 1 Download
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Part 2 book "General and oral pathology for dental hygiene practice" includes content: Developmental disorders of the orofacial complex; disorders of genetics and inheritance; neoplasms of the oral soft tissues and facial skin; neoplasms of the bones of the mandible and maxilla; systemic pathology and oral manifestations of systemic diseases.
180p muasambanhan10 11-04-2024 2 1 Download
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Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration and investigate possible mechanisms of cxSV formation.
10p vibransone 28-03-2024 4 1 Download
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Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual’s susceptibility to diseases.
11p vibransone 28-03-2024 7 1 Download
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Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements.
17p vibransone 28-03-2024 3 2 Download
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes.
25p vibransone 28-03-2024 5 1 Download
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Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p vioraclene 31-03-2024 8 2 Download
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Psychiatric disorders are multigenic diseases with complex etiology that contribute significantly to human morbidity and mortality. Although clinically distinct, several disorders share many symptoms, suggesting common underlying molecular changes exist that may implicate important regulators of pathogenesis and provide new therapeutic targets.
12p vioraclene 31-03-2024 2 1 Download
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Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally unknown.
14p vioraclene 31-03-2024 2 2 Download
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The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to assess the significance of individual genes.
9p vioraclene 31-03-2024 5 2 Download
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Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human brain is a complex organ that is susceptible to numerous disorders.
27p vibransone 28-03-2024 7 2 Download
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Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is inherited in > 90% of cases from a mildly-affected parent.
21p vibransone 28-03-2024 8 2 Download
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We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani.
5p viellison 28-03-2024 2 1 Download
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Ebook "Systems analysis of human multigene disorders" Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors.
134p duongthandue0501 28-02-2024 1 1 Download
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High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the 3q29 deletion syndrome (del3q29S).
17p vicwell 29-02-2024 2 1 Download
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Alzheimer’s disease (AD) is a genetically complex and heterogeneous disorder with multifaceted neuropathological features, including β-amyloid plaques, neurofibrillary tangles, and neuroinflammation.
25p vicwell 29-02-2024 2 1 Download
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Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed.
24p vicwell 29-02-2024 1 1 Download
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Prioritizing genes that underlie complex brain disorders poses a considerable challenge. Despite previous studies have found that they shared symptoms and heterogeneity, it remained difficult to systematically identify the risk genes associated with them.
20p vicwell 29-02-2024 1 1 Download
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Ebook Brain & behavior: An introduction to biological psychology (fourth edition) - Part 2 includes content: Learning and memory, intelligence and cognitive functioning, psychological disorders, sleep and consciousness. Invite you to consult the details.
661p longtimenosee03 01-02-2024 0 0 Download