Pathway paradigms revealed from the genetics of inflammatory bowel disease

DB Graham, RJ Xavier - Nature, 2020 - nature.com
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and
amplified by the confluence of multiple genetic and environmental variables that perturb the …

C-type lectins in immunity and homeostasis

GD Brown, JA Willment, L Whitehead - Nature Reviews Immunology, 2018 - nature.com
The C-type lectins are a superfamily of proteins that recognize a broad repertoire of ligands
and that regulate a diverse range of physiological functions. Most research attention has …

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

A Sazonovs, CR Stevens, GR Venkataraman, K Yuan… - Nature …, 2022 - nature.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …

[HTML][HTML] Beyond K48 and K63: non-canonical protein ubiquitination

M Tracz, W Bialek - Cellular & molecular biology letters, 2021 - Springer
Protein ubiquitination has become one of the most extensively studied post-translational
modifications. Originally discovered as a critical element in highly regulated proteolysis …

[HTML][HTML] Fungal microbiome in inflammatory bowel disease: a critical assessment

DM Underhill, J Braun - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
The gut microbiome is at the center of inflammatory bowel disease (IBD) pathogenesis and
disease activity. While this has mainly been studied in the context of the bacterial …

Urbanization and the gut microbiota in health and inflammatory bowel disease

T Zuo, MA Kamm, JF Colombel, SC Ng - … Reviews Gastroenterology & …, 2018 - nature.com
In the 21st century, urbanization represents a major demographic shift in developed and
developing countries. Rapid urbanization in the developing world has been associated with …

Reactivation of PTEN tumor suppressor for cancer treatment through inhibition of a MYC-WWP1 inhibitory pathway

YR Lee, M Chen, JD Lee, J Zhang, SY Lin, TM Fu… - Science, 2019 - science.org
INTRODUCTION Inhibition of oncogenic proteins represents a mainstay approach for cancer
therapeutic development. By contrast, pharmacological modulation of tumor suppressor …

[HTML][HTML] Unique roles of rare variants in the genetics of complex diseases in humans

Y Momozawa, K Mizukami - Journal of human genetics, 2021 - nature.com
Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

L Wang, D Aschenbrenner, Z Zeng, X Cao, D Mayr… - Nature …, 2021 - nature.com
Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target.
We identified damaging monoallelic SYK variants in six patients with immune deficiency …

CARD–BCL-10–MALT1 signalling in protective and pathological immunity

J Ruland, L Hartjes - Nature Reviews Immunology, 2019 - nature.com
Abstract CARD protein–BCL-10–MALT1 (CBM) signalosomes are multiprotein signalling
platforms that control immune and inflammatory pathways in most tissues. After exposure to …