The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

K Manthiram, Q Zhou, I Aksentijevich, DL Kastner - Nature immunology, 2017 - nature.com
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and
immunological entities caused by dysregulation in the innate immune system. Since then …

Sequencing depth and coverage: key considerations in genomic analyses

D Sims, I Sudbery, NE Ilott, A Heger… - Nature Reviews …, 2014 - nature.com
Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

KM De Lange, L Moutsianas, JC Lee, CA Lamb… - Nature …, 2017 - nature.com
Genetic association studies have identified 215 risk loci for inflammatory bowel disease,,,,,,,,
thereby uncovering fundamental aspects of its molecular biology. We performed a genome …

Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib

JA Woyach, RR Furman, TM Liu, HG Ozer… - … England Journal of …, 2014 - Mass Medical Soc
Background Ibrutinib is an irreversible inhibitor of Bruton's tyrosine kinase (BTK) and is
effective in chronic lymphocytic leukemia (CLL). Resistance to irreversible kinase inhibitors …

Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach

PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …

[HTML][HTML] The diagnostic approach to monogenic very early onset inflammatory bowel disease

HH Uhlig, T Schwerd, S Koletzko, N Shah… - Gastroenterology, 2014 - Elsevier
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Alzheimer's-associated PLCγ2 is a signaling node required for both TREM2 function and the inflammatory response in human microglia

BJ Andreone, L Przybyla, C Llapashtica, A Rana… - Nature …, 2020 - nature.com
Human genetic data indicate that microglial dysfunction contributes to the pathology of
Alzheimer's disease (AD), exemplified by the identification of coding variants in triggering …

Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition

JA Burger, DA Landau, A Taylor-Weiner, I Bozic… - Nature …, 2016 - nature.com
Resistance to the Bruton's tyrosine kinase (BTK) inhibitor ibrutinib has been attributed solely
to mutations in BTK and related pathway molecules. Using whole-exome and deep-targeted …

Phosphatidylinositol (4, 5) bisphosphate: diverse functions at the plasma membrane

M Katan, S Cockcroft - Essays in biochemistry, 2020 - portlandpress.com
Abstract Phosphatidylinositol (4, 5) bisphosphate (PI (4, 5) P2) has become a major focus in
biochemistry, cell biology and physiology owing to its diverse functions at the plasma …

Protein kinase D at the Golgi controls NLRP3 inflammasome activation

Z Zhang, G Meszaros, W He, Y Xu… - Journal of Experimental …, 2017 - rupress.org
The inflammasomes are multiprotein complexes sensing tissue damage and infectious
agents to initiate innate immune responses. Different inflammasomes containing distinct …