1. [PDF] INSTINCT: Multi-sample integration of spatial chromatin - bioRxiv
31 mei 2024 · 135. The discriminator is pretrained to ... method and embedding it into INSTINCT could elevate spATAC-seq data to single-cell.
2. The two sides of chromosomal instability: drivers and brakes in ...
29 mrt 2024 · Chromosomal instability (CIN) is a hallmark of cancer and is associated with tumor cell malignancy. CIN triggers a chain reaction in cells ...
Chromosomal instability (CIN) is a hallmark of cancer and is associated with tumor cell malignancy. CIN triggers a chain reaction in cells leading to chromosomal abnormalities, including deviations from the normal chromosome number or structural changes in chromosomes. CIN arises from errors in DNA replication and chromosome segregation during cell division, leading to the formation of cells with abnormal number and/or structure of chromosomes. Errors in DNA replication result from abnormal replication licensing as well as replication stress, such as double-strand breaks and stalled replication forks; meanwhile, errors in chromosome segregation stem from defects in chromosome segregation machinery, including centrosome amplification, erroneous microtubule–kinetochore attachments, spindle assembly checkpoint, or defective sister chromatids cohesion. In normal cells, CIN is deleterious and is associated with DNA damage, proteotoxic stress, metabolic alteration, cell cycle arrest, and senescence. Paradoxically, despite these negative consequences, CIN is one of the hallmarks of cancer found in over 90% of solid tumors and in blood cancers. Furthermore, CIN could endow tumors with enhanced adaptation capabilities due to increased intratumor heterogeneity, thereby facilitating adaptive resistance to therapies; however, excessive CIN could induce tumor cells death, leading to the “just-right” model for CIN in tumors. Elucidating the complex nature of CIN is crucial for understandin...
3. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and ...
4 mrt 2024 · This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in ...
Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.
4. marking 25 years into the film's “not-too-distant” future | Genetics
Based on what is in his genome, Vincent is predicted at birth to be at risk for several conditions, including a heart disorder foretold to lead to early death, ...
5. Advanced molecular pathology for rare tumours: A national ...
Results: Complete CPR diagnostics were successful for 88% (120/135). Inadequate sampling was the most common cause of failure; biomaterials were typically ...
Aims: Application of advanced molecular pathology in rare tumours is hindered by low sample numbers, access to specialised expertise/technologies and tissue/assay QC and rapid reporting requirements. We assessed the feasibility of co-ordinated real-time centralised pathology review (CPR), encompassing molecular diagnostics and contemporary genomics (RNA-seq/DNA methylation-array). Methods: This nationwide trial in medulloblastoma (<80 UK diagnoses/year) introduced a national reference centre (NRC) and assessed its performance and reporting to World Health Organisation standards. Paired frozen/formalin-fixed, paraffin-embedded tumour material were co-submitted from 135 patients (16 referral centres). Results: Complete CPR diagnostics were successful for 88% (120/135). Inadequate sampling was the most common cause of failure; biomaterials were typically suitable for methylation-array (129/135, 94%), but frozen tissues commonly fell below RNA-seq QC requirements (53/135, 39%). Late reporting was most often due to delayed submission. CPR assigned or altered histological variant (vs local diagnosis) for 40/135 tumours (30%). Benchmarking/QC of specific biomarker assays impacted test results; fluorescent in-situ hybridisation most accurately identified high-risk MYC/MYCN amplification (20/135, 15%), while combined methods (CTNNB1/chr6 status, methylation-array subgrouping) best defined favourable-risk WNT tumours (14/135; 10%). Engagement of a specialist pathologist panel was essen...
6. Losing DNA methylation at repetitive elements and breaking bad
3 jun 2021 · DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in ...
DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in preserving genome stability (including chromosome stability) by controlling both gene expression and chromatin structure. Therefore, the onset of an incorrect pattern of DNA methylation is potentially dangerous for the cells. This is particularly important with respect to repetitive elements, which constitute the third of the human genome. Repetitive sequences are involved in several cell processes, however, due to their intrinsic nature, they can be a source of genome instability. Thus, most repetitive elements are usually methylated to maintain a heterochromatic, repressed state. Notably, there is increasing evidence showing that repetitive elements (satellites, long interspersed nuclear elements (LINEs), Alus) are frequently hypomethylated in various of human pathologies, from cancer to psychiatric disorders. Repetitive sequences’ hypomethylation correlates with chromatin relaxation and unscheduled transcription. If these alterations are directly involved in human diseases aetiology and how, is still under investigation. Hypomethylation of different families of repetitive sequences is recurrent in many different human diseases, suggesting that the methylation status of these elements can be involved in preservation of human health. This provides a promising point of view towards the research of therapeutic strategies focused on specifically...
7. Germline risk of clonal haematopoiesis - Nature
13 mei 2021 · Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with somatic mutations that is associated with an increased risk of haematological ...
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with somatic mutations that is associated with an increased risk of haematological malignancies, cardiovascular disease and all-cause mortality. CH may be caused by point mutations in genes associated with myeloid neoplasms, chromosomal copy number changes and loss of heterozygosity events. How inherited and environmental factors shape the incidence of CH is incompletely understood. Even though the several varieties of CH may have distinct phenotypic consequences, recent research points to an underlying genetic architecture that is highly overlapping. Moreover, there are numerous commonalities between the inherited variation associated with CH and that which has been linked to age-associated biomarkers and diseases. In this Review, we synthesize what is currently known about how inherited variation shapes the risk of CH and how this genetic architecture intersects with the biology of diseases that occur with ageing. Silver, Bick and Savona discuss our latest understanding of clonal haematopoiesis (CH), which is an expansion of blood cell populations with shared somatic mutations. They focus on human germline risk variants and on how these are linked to different forms of CH and their associated disease pathologies.
8. Regulation of chromosome segregation in oocytes and the ...
13 dec 2017 · Author Notes. Human Reproduction Update, Volume 24, Issue 2, March-April 2018, Pages 135–161, https://doi.org/10.1093/humupd/dmx035.
9. Genetic Biomarkers and Their Clinical Implications in B-Cell Acute ... - MDPI
The presence of the triple trisomy (simultaneous gain of chromosomes +4, +10, and +17) is currently used by the Children's Oncology Group (COG) as a prognostic ...
Acute lymphoblastic leukemia (ALL) is a heterogeneous group of hematologic malignancies characterized by abnormal proliferation of immature lymphoid cells. It is the most commonly diagnosed childhood cancer with an almost 80% cure rate. Despite favorable survival rates in the pediatric population, a significant number of patients develop resistance to therapy, resulting in poor prognosis. ALL is a heterogeneous disease at the genetic level, but the intensive development of sequencing in the last decade has made it possible to broaden the study of genomic changes. New technologies allow us to detect molecular changes such as point mutations or to characterize epigenetic or proteomic profiles. This process made it possible to identify new subtypes of this disease characterized by constellations of genetic alterations, including chromosome changes, sequence mutations, and DNA copy number alterations. These genetic abnormalities are used as diagnostic, prognostic and predictive biomarkers that play an important role in earlier disease detection, more accurate risk stratification, and treatment. Identification of new ALL biomarkers, and thus a greater understanding of their molecular basis, will lead to better monitoring of the course of the disease. In this article, we provide an overview of the latest information on genomic alterations found in childhood ALL and discuss their impact on patients’ clinical outcomes.
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10. Generation of Novel Plasmodium falciparum NF135 and NF54 Lines ...
9 jun 2020 · ... Instinct software (Promega). Primary Human Hepatocyte ... In addition, it shows absence of the p47 gene in GFP@ef1α135 clone 2 ...
Transgenic reporter lines of malaria parasites that express fluorescent or luminescent proteins are valuable tools for drug and vaccine screening assays as w...
11. [PDF] Basic Instinct? Female Fertility and Genes - ieb@ub.edu
21 apr 2021 · as an index of selective success of genetic predispositions, such as the innate capabilities to produce ... ” Psychological Bulletin, 135(6): 885– ...
12. Genetics of Skin Cancer (PDQ®) - NCI
25 jun 2024 · Putative Genes for Basal Cell Carcinoma. BRCA1-associated protein 1 (BAP1). Pathogenic variants in the BAP1 gene are associated with an ...
Genetics of Skin Cancer includes information about genes and hereditary syndromes associated with basal cell, squamous cell, and melanoma skin cancer. Get comprehensive information about the genetics of skin cancer and interventions in this summary for clinicians.
13. Biological hierarchy, determinism, and specificity - Research Features
1 mei 2021 · Hierarchy is also a property of gene-regulatory networks that play a central role in the development of organisms. Philosopher Michael Morange ...
Exploring the impact of philosophical and scientific concepts as well as scientific personalities on the development of modern life sciences.
14. Circulating tumour DNA as a prognostic tool in prostate cancer
5 mei 2021 · Metastatic prostate cancer is associated with changes occurring in the DNA. Dr Manish Kohli uses tumour DNA to identify genomic alterations.
Metastatic prostate cancer is associated with changes occurring in the DNA. Dr Manish Kohli uses tumour DNA to identify genomic alterations.
15. Instincts and Emotions (Know Thyself) - Hazell, Kenneth | Wellcome ...
Instincts and Emotions (Know Thyself) - Hazell, Kenneth. ... 135 · From Simple Cells to Simple Symbols: a Theory ... Some Speculations on a New Chromosome Model - ...
Instincts and Emotions (Know Thyself) - Hazell, Kenneth
16. [RTF] INDEX
... 135. Behaviour, 208 ; v. Instinct. Bergson, 166 ... Chromosome, 39, 41-44, 47-60, 67, 68, 73-82, 103 ... 135, 136. Darwin, Darwinism, 1, 12-15, 18, 22 ...
17. New 2025 Rocky Mountain Instinct Powerplay SL on review
5 dagen geleden · 125 mm, 135 mm. Head angle, 64°, 64°, 64°, 64 ... The new Instinct Powerplay SL is a sporty eMTB that perfectly embodies Rocky Mountain's DNA.
We put the new Rocky Mountain Instinct Powerplay SL light e-mountain through the wringer to tell you what it’s capable of with its mid-power motor.
18. Genes | MHS2 | Monster Hunter Stories 2: Wings of Ruin Database
No.135. Noxious Poison Gene (L). Technical Type. Non-Elem. Required Level ... Evasion Instinct Gene (S). Speed Type. Water. Required Level : 1. GeneSize : 1.
A database for Monster Hunter Stories 2: Wings of Ruin
