[HTML][HTML] A surgically optimized intraoperative poly (I: C)-releasing hydrogel prevents cancer recurrence

FX Rwandamuriye, CW Evans, B Wylie, M Norret… - Cell Reports …, 2023 - cell.com
Recurrences frequently occur following surgical removal of primary tumors. In many cancers,
adjuvant therapies have limited efficacy. Surgery provides access to the tumor …

[HTML][HTML] Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies

C Roth, H Kilpinen, MA Kurian, S Barral - Frontiers in Cell and …, 2023 - frontiersin.org
Neurodevelopmental disorders encompass a group of debilitating diseases presenting with
motor and cognitive dysfunction, with variable age of onset and disease severity. Advances …

[HTML][HTML] Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

VS Fear, CA Forbes, NC Shaw, KO Farley… - Stem Cell Research & …, 2023 - Springer
Background Genomic sequencing in congenital heart disease (CHD) patients often
discovers novel genetic variants, which are classified as variants of uncertain significance …

[HTML][HTML] CRISPR-Cas9-generated PTCHD1 2489T> G stem cells recapitulate patient phenotype when undergoing neural induction

KO Farley, CA Forbes, NC Shaw, E Kuzminski… - Human Genetics and …, 2024 - cell.com
Summary An estimated 3.5%–5.9% of the global population live with rare diseases, and
approximately 80% of these diseases have a genetic cause. Rare genetic diseases are …

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of …

N Kubota, R Takeda, J Kobayashi, E Hidaka… - Molecular …, 2023 - karger.com
Introduction: Chromosomal microarray (CMA) is a highly accurate and established method
for detecting copy number variations (CNVs) in clinical genetic testing. CNVs are important …

Establishment of Human Pluripotent Stem Cell-derived Cortical Neurosphere Model to Study Pathomechanisms and Drug Sensitivity in Kleefstra Syndrome

A Balogh, M Bódi-Jakus, VR Karl, T Bellák, B Széky… - 2024 - researchsquare.com
In the present study, we aimed to establish and characterize a mature cortical spheroid
model system for Kleefstra syndrome (KS) using patient-derived iPSC. We identified key …

[PDF][PDF] Biomaterial-assisted delivery of immunotherapy: a novel approach to prevent cancer recurrence

F Rwandamuriye - 2023 - research-repository.uwa.edu.au
Biomaterial-assisted delivery of immunotherapy: a novel approach to prevent cancer recurrence
Page 1 i Biomaterial-assisted delivery of immunotherapy: a novel approach to prevent cancer …

[PDF][PDF] Investigating the Genetic Architecture of Juvenile Onset Common Complex Diseases

MK Tordoff - 2023 - pure.manchester.ac.uk
JIAU is the most common comorbidity of JIA, with around 13% of patients with JIA
developing the eye complication (Petty and Zheng, 2020). One recent study of 8066 children …