Interleukin-21 Influences Glioblastoma Course: Biological Mechanisms and Therapeutic Potential
A Repici, A Ardizzone, A Filippone, C Colarossi… - Cells, 2023 - mdpi.com
Brain tumors represent a heterogeneous group of neoplasms involving the brain or nearby
tissues, affecting populations of all ages with a high incidence worldwide. Among the …
tissues, affecting populations of all ages with a high incidence worldwide. Among the …
Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model
S Di Maio, P Zöscher, H Weissensteiner, L Forer… - Genome Biology, 2024 - Springer
Background Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions
harboring many potentially disease-causing variants. However, VNTRs often appear …
harboring many potentially disease-causing variants. However, VNTRs often appear …
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause
polymerase proofreading-associated polyposis, a dominantly inherited disorder with …
polymerase proofreading-associated polyposis, a dominantly inherited disorder with …
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
ES Kobayashi, NS Lotan, YD Schejter… - The Journal of …, 2024 - Elsevier
To evaluate a novel candidate disease gene, we engaged international collaborators and
identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in 4 …
identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in 4 …
LRRK2 regulates the activation of the unfolded protein response and antigen presentation in macrophages during inflammation
AM Fahmy, T Cannon, CH Paredes, A Ahmadi, YZ Xu… - bioRxiv, 2023 - biorxiv.org
While the contribution of inflammation in the pathological process leading to Parkinson's
disease (PD) is well established, a growing body of evidence supports a role for the long …
disease (PD) is well established, a growing body of evidence supports a role for the long …
Prevalence of pathogenic germline variants in adult-type diffuse glioma
MF McDonald, LL Prather, CR Helfer… - Neuro-Oncology …, 2023 - academic.oup.com
Background No consensus germline testing guidelines currently exist for glioma patients, so
the prevalence of germline pathogenic variants remains unknown. This study aims to …
the prevalence of germline pathogenic variants remains unknown. This study aims to …
Population Neuroscience: Principles and Advances
T Paus - 2024 - Springer
In population neuroscience, three disciplines come together to advance our knowledge of
factors that shape the human brain: neuroscience, genetics, and epidemiology (Paus …
factors that shape the human brain: neuroscience, genetics, and epidemiology (Paus …