Strategies for delivering therapeutics across the blood–brain barrier

GC Terstappen, AH Meyer, RD Bell… - Nature Reviews Drug …, 2021 - nature.com
Achieving sufficient delivery across the blood–brain barrier is a key challenge in the
development of drugs to treat central nervous system (CNS) disorders. This is particularly …

Overcoming therapy resistance in EGFR-mutant lung cancer

A Passaro, PA Jänne, T Mok, S Peters - Nature Cancer, 2021 - nature.com
Tyrosine kinase inhibitors (TKIs) have dramatically changed the clinical prospects of patients
with non-small cell lung cancer harboring epidermal growth factor receptor (EGFR) …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Large-scale integration of the plasma proteome with genetics and disease

E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …

[HTML][HTML] Tissue extracellular matrix hydrogels as alternatives to Matrigel for culturing gastrointestinal organoids

S Kim, S Min, YS Choi, SH Jo, JH Jung, K Han… - Nature …, 2022 - nature.com
Matrigel, a mouse tumor extracellular matrix protein mixture, is an indispensable component
of most organoid tissue culture. However, it has limited the utility of organoids for drug …

[HTML][HTML] Domains and functions of spike protein in Sars-Cov-2 in the context of vaccine design

X Xia - Viruses, 2021 - mdpi.com
The spike protein in SARS-CoV-2 (SARS-2-S) interacts with the human ACE2 receptor to
gain entry into a cell to initiate infection. Both Pfizer/BioNTech's BNT162b2 and Moderna's …

The gasdermins, a protein family executing cell death and inflammation

P Broz, P Pelegrín, F Shao - Nature Reviews Immunology, 2020 - nature.com
The gasdermins are a family of recently identified pore-forming effector proteins that cause
membrane permeabilization and pyroptosis, a lytic pro-inflammatory type of cell death …

[HTML][HTML] Sex differences in severity and mortality from COVID-19: are males more vulnerable?

A Pradhan, PE Olsson - Biology of sex Differences, 2020 - Springer
Abstract Coronavirus disease 2019 (COVID-19) has shown high infection and mortality rates
all over the world, and despite the global efforts, there is so far no specific therapy available …

[HTML][HTML] Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing …

LC Walker, M de la Hoya, GAR Wiggins, A Lindy… - The American Journal of …, 2023 - cell.com
Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …