J. Maxwell Douglas
A5077015737- Endometrial and Cervical Cancer Treatments
- Ovarian cancer diagnosis and treatment
- Prostate Cancer Treatment and Research
- Cancer Genomics and Diagnostics
- Congenital Diaphragmatic Hernia Studies
- Neuroendocrine Tumor Research Advances
- Neonatal Respiratory Health Research
- Sarcoma Diagnosis and Treatment
- Cancer Cells and Metastasis
- Evolution and Genetic Dynamics
- Alzheimer's disease research and treatments
- Lung Cancer Research Studies
- Wikis in Education and Collaboration
- FinTech, Crowdfunding, Digital Finance
- Genetics, Aging, and Longevity in Model Organisms
- Wnt/β-catenin signaling in development and cancer
- Pluripotent Stem Cells Research
- Cerebrospinal fluid and hydrocephalus
- Functional Brain Connectivity Studies
- Neonatal and fetal brain pathology
- Cancer Immunotherapy and Biomarkers
- PARP inhibition in cancer therapy
- Health, Environment, Cognitive Aging
- Dementia and Cognitive Impairment Research
- Genomics and Phylogenetic Studies
University of California, San Diego
2025
University of British Columbia
2024
BC Cancer Agency
2020-2022
University College London
2022
Center for Inherited Blood Disorders
2022
How cell-to-cell copy number alterations that underpin genomic instability
Abstract Endometrial carcinoma, the most common gynaecological cancer, develops from endometrial epithelium which is composed of secretory and ciliated cells. Pathologic classification unreliable there a need for prognostic tools. We used single cell sequencing to study organoid model systems derived normal endometrium discover novel markers specific or A marker cells (MPST) several (FAM92B, WDR16, DYDC2) were validated by immunohistochemistry on organoids tissue sections. performed ovarian...
<h3>Importance</h3> Allelic variation in the brain-derived neurotrophic factor (<i>BDNF</i>) Val66Met polymorphism moderates increases cerebrospinal fluid (CSF) levels of tau and phosphorylated 181 (p-tau181), measured using immunoassay, cognitive decline presymptomatic dominantly inherited Alzheimer disease (DIAD). Advances mass spectrometry show that CSF phosphorylation occupancy at threonine 217 (p-tau181/tau181, p-tau217/tau217) with initial β-amyloid (Aβ) aggregation, while 205...
Abstract Neurofilament light chain, a putative measure of neuronal damage, is measurable in blood and CSF predictive cognitive function individuals with Alzheimer’s disease. There has been limited prior work linking neurofilament functional connectivity, no investigated associations connectivity autosomal dominant Here, we assessed relationships between light, cognition, cross-sectional sample 106 disease mutation carriers 76 non-carriers. We employed an innovative network-level enrichment...
Abstract Purpose: Shallow whole-genome sequencing (sWGS) can detect copy-number (CN) aberrations. In high-grade serous ovarian cancer (HGSOC) sWGS identified CN signatures such as homologous recombination deficiency (HRD) to direct therapy. We applied with targeted p53abn endometrial cancers identify additional prognostic stratification and therapeutic opportunities. Experimental Design: panel was performed on formalin-fixed, paraffin-embedded cancers. alterations, mutational data were...
Abstract Background PSEN1, PSEN2, and APP mutations cause Alzheimer’s disease (AD) with an early age at onset (AAO) progressive cognitive decline. PSEN1 are more common generally have earlier AAO; however, certain a later AAO, similar to those observed in PSEN2 . Methods We examined whether endotypes exist across these AAO (~ 55 years) using hiPSC-derived neurons from familial (FAD) patients harboring A79V , N141I V717I mechanistically characterized by integrating RNA-seq ATAC-seq. Results...
Low-grade serous ovarian carcinoma (LGSC) is a rare and lethal subtype of cancer. LGSC pathologically, biologically, clinically distinct from the more common high-grade (HGSC). arises borderline tumours (SBTs). The mechanism transformation for SBTs to remains poorly understood. To better understand biology LGSC, we performed whole proteome profiling formalin-fixed, paraffin-embedded tissue blocks (n = 11), HGSC 19), 26). We identified that able distinguish between histotypes epithelial...
Abstract Hereditary diffuse gastric cancer (HDGC) is a syndrome caused by germline variants in CDH1 , the gene encoding cell–cell adhesion molecule E‐cadherin. Loss of E‐cadherin associated with cellular dedifferentiation and poor prognosis, but mechanisms through which loss initiates HDGC are not known. Using single‐cell RNA sequencing, we explored transcriptional landscape murine organoid model to characterize impact early tumourigenesis. Progenitor populations stratified squamous simple...
DICER1 is an RNase III enzyme essential for miRNA biogenesis through cleaving precursor-miRNA hairpins. Germline loss-of-function mutations underline the development of syndrome, a rare genetic disorder that predisposes children to cancer in organs such as lung, gynecologic tract, kidney, and brain. Unlike classical tumor suppressors, somatic "second hit" syndrome-associated cancers does not fully inactivate but impairs its IIIb activity only, suggesting noncanonical two-hit hypothesis....
We report the generation of a gene-edited human induced pluripotent stem cell (iPSC) line from an Alzheimer's disease patient-derived iPSC harbouring PSEN1 H163R mutation. This demonstrates morphology, expression pluripotency markers, and maintains normal karyotype.
ABSTRACT Structural genome alterations are determinants of cancer ontogeny and therapeutic response. While bulk sequencing has enabled delineation structural variation (SV) mutational processes which generate patterns DNA damage, we have little understanding how these lead to cell-to-cell variations underlie selection rates accrual different genomic lesions. We analysed 309 high grade serous ovarian triple negative breast genomes determine their processes, selecting 22 from sequenced...
Wikipedia is one of the most important channels for public communication science and frequently accessed as an educational resource in computational biology. Joint efforts between International Society Computational Biology (ISCB) taskforce WikiProject Molecular (a group expert editors) have considerably improved biology representation on recent years. However, there still urgent need further improvement quality, especially when compared to related scientific fields such genetics medicine....
<p>Supplemental figure 1. Flowchart depicting the selection of cohort.</p>
<p>Supplemental Figure 2. Oncoplot of HR associated genes.</p>
<p>Supplemental figure 3. Representative images of the FISH analysis performed on validation cohort to verify absolute copy number generated by rascal tool. In blue are nuclei stained with DAPI; Green arrows pointing centromeric probe CEP 7 (SpectrumGreen - Abbott Molecular); Red 11 (SpectrumOrange Molecular) probe.</p>
<p>Supplemental figure 4. Plot summarizing the relationship between Vancouver signature exposures per sample, copy number status and targeted panel mutations for key HRD genes.</p>
<p>Supplemental figure 8. Kaplan- Meier survival analyses showing improved overall for VS2 and worse VS1 VS3, however, this not significant PFS or DSS.</p>
<p>Supplemental figure 11. Kaplan-Meier survival analyses demonstrating no difference in PFS p53abn EC patients with endometrioid tumors compared to non-endometrioid (carcinosarcoma, clear cell, serous and other) once adjusting for FIGO stage.</p>
<p>Supplemental figure 5. Plot summarizing the relationship between BriTROC signature exposures per sample, targeted panel mutations, copy number status, and various clinical correlates</p>