Publications by authors named "Angela Wei"

Objective: The aim of this study is to define a comprehensive and repeatable contrast-enhanced ultrasound (CEUS) imaging protocol and analysis method to quantitatively assess lesional blood flow. Easily repeatable CEUS evaluations are essential for longitudinal treatment monitoring. The quantification method described here aims to provide a structure for future clinical studies.

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Background: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in which functions to maintain genomic stability. BSyn patients have poor growth, immune defects, insulin resistance, and a significantly increased risk of malignancies, most commonly hematologic. The malignancy risk in carriers of pathogenic variants in ( variant carriers) remains understudied.

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  • - Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder linked to mutations in the KAT6A gene, resulting in symptoms like intellectual disability, developmental delays, and hypotonia, affecting multiple organs.
  • - The study analyzed dermal fibroblasts from ARTHS patients and controls, revealing that about 23% of genes showed different chromatin accessibility and expression, particularly in genes from the HOXC gene cluster, which are vital for early developmental processes.
  • - Additionally, researchers discovered two new disrupted histone modifications (H2A and H3K56 acetylation) in ARTHS, highlighting the complex regulatory roles of KAT6A on gene expression and epigenomic changes
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Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes, carrier polygenic backgrounds, and modulation of carrier effect by genetic background (marginal epistasis).

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Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, truncating mutations in . ARTHS is clinically heterogeneous and characterized by several common features including intellectual disability, developmental and speech delay, hypotonia and affects multiple organ systems. is highly expressed in early development and plays a key role in cell-type specific differentiation.

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  • Researchers developed a humanized mouse model incorporating the human TOMM40 and APOE genes, complete with their regulatory sequences, to study late-onset Alzheimer's disease and other age-related conditions.
  • The scientists employed recombineering technologies to replace the mouse gene regions with human ones, measuring gene expression in brain, liver, and spleen tissues using advanced mRNA assays.
  • Their findings highlighted how factors like the '523' polyT genotype, age, and sex affect the expression of TOMM40 and APOE genes, indicating potential for new studies in drug discovery related to these genes and their implications for adult health.
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Background: Asian American and Pacific Islander (AAPI) melanoma patients have higher mortality than non-Hispanic White (NHW) patients. Treatment delays may contribute, but whether AAPI patients have longer time from diagnosis to definitive surgery (TTDS) is unknown.

Objectives: Investigate TTDS differences between AAPI and NHW melanoma patients.

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  • The text examines the impact of colonialism on Indigenous populations, highlighting how its trauma has led to a higher incidence of gender-based violence (GBV) within these communities.
  • A scoping review included studies from Indigenous groups across North America and beyond, focusing on the relationship between traditional gender norms and the ongoing effects of colonial disruption.
  • Key findings underscore the importance of understanding Two-Spirit identities and traditional matriarchal practices as potential resilience factors, while also emphasizing the need for more research on GBV against males and Two-Spirit individuals.
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  • * The study involved analyzing genetic changes in individuals with BOS compared to healthy controls using advanced techniques that looked at chromatin accessibility, DNA methylation, and gene expression in different cell types.
  • * ASXL1 mutations were found to have widespread effects across tissues, notably activating Wnt signaling pathways, which may help identify potential treatments for both BOS and acute myeloid leukemia.
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  • Hospitalized patients with SARS-CoV-2 infection are more likely to develop hospital-acquired sacral pressure injuries (HASPI), with a 63% higher incidence rate compared to non-infected patients.
  • COVID-19(+) patients experience more severe HASPIs, requiring more aggressive treatments like debridement, and have a worse overall hospitalization course.
  • Histological examinations of HASPIs in COVID-19(+) patients show significant evidence of thrombotic vasculopathy and an immune response indicating that COVID-19 may disrupt normal skin healing processes, contributing to pressure injuries.
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Background: Pathogenic mutations in genes that control chromatin function have been implicated in rare genetic syndromes. These chromatin modifiers exhibit extraordinary diversity in the scale of the epigenetic changes they affect, from single basepair modifications by DNMT1 to whole genome structural changes by PRM1/2. Patterns of DNA methylation are related to a diverse set of epigenetic features across this full range of epigenetic scale, making DNA methylation valuable for mapping regions of general epigenetic dysregulation.

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  • Starvation resistance plays a crucial role in health and survival, but its genetic factors were not fully understood until now.
  • The researchers used a synthetic-population sequencing method to assess starvation resistance among 100 distinct wild strains, identifying genetic differences that influence how well these strains withstand starvation.
  • They pinpointed three key genetic regions linked to starvation resistance and confirmed the effects of various genes, suggesting a role for certain insulin/EGF receptor family genes in modifying the body’s response to starvation.
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  • * Researchers analyzed data from 2234 medical graduates to identify key applicant traits linked to successful matches, such as PhD/MD status, attending a top medical school, and having a significant number of pre-residency publications.
  • * While having first author publications is known to relate to academic careers, the study found that it didn't predict matching into research-oriented dermatology programs, suggesting the need for a more holistic evaluation of research contributions.
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Importance: According to the National Residency Matching Program's biennial Charting Outcomes in the Match (NRMP ChOM) reports, the mean number of research items of matched allopathic dermatology applicants has nearly tripled since 2007, rising from 5.7 to 14.7.

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Cell sheet morphogenesis is essential for metazoan development and homeostasis of animal form - it contributes to developmental milestones including gastrulation, neural tube closure, heart and palate formation and to tissue maintenance during wound healing. Dorsal closure, a well-characterized stage in embryogenesis and a model for cell sheet morphogenesis, is a remarkably robust process during which coordination of conserved gene expression patterns and signaling cascades regulate the cellular shape changes and movements. New 'dorsal closure genes' continue to be discovered due to advances in imaging and genetics.

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We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex.

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