Inflammasome activation and regulation: toward a better understanding of complex mechanisms

D Zheng, T Liwinski, E Elinav - Cell discovery, 2020 - nature.com
Inflammasomes are cytoplasmic multiprotein complexes comprising a sensor protein,
inflammatory caspases, and in some but not all cases an adapter protein connecting the two …

Gestational trophoblastic disease

MJ Seckl, NJ Sebire, RS Berkowitz - The Lancet, 2010 - thelancet.com
Gestational trophoblastic disease encompasses a range of pregnancy-related disorders,
consisting of the premalignant disorders of complete and partial hydatidiform mole, and the …

Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of …

JR Lurain - American journal of obstetrics and gynecology, 2010 - Elsevier
Gestational trophoblastic disease includes hydatidiform mole (complete and partial) and
gestational trophoblastic neoplasia (invasive mole, choriocarcinoma, placental site …

[HTML][HTML] Mechanisms of NOD-like receptor-associated inflammasome activation

H Wen, EA Miao, JPY Ting - Immunity, 2013 - cell.com
A major function of a subfamily of NLR (nucleotide-binding domain, leucine-rich repeat
containing, or NOD-like receptor) proteins is in inflammasome activation, which has been …

The inflammasomes and autoinflammatory syndromes

L Broderick, D De Nardo, BS Franklin… - Annual Review of …, 2015 - annualreviews.org
Inflammation, a vital response of the immune system to infection and damage to tissues, can
be initiated by various germline-encoded innate immune-signaling receptors. Among these …

[HTML][HTML] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

M Quinodoz, VG Peter, K Cisarova… - The American Journal of …, 2022 - cell.com
We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

LE Docherty, FI Rezwan, RL Poole, CLS Turner… - Nature …, 2015 - nature.com
Human-imprinting disorders are congenital disorders of growth, development and
metabolism, associated with disturbance of parent of origin-specific DNA methylation at …

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

DA Parry, CV Logan, BE Hayward, M Shires… - The American Journal of …, 2011 - cell.com
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect
recessive inherited disorder in humans. Affected women, although developmentally normal …

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

M Begemann, FI Rezwan, J Beygo… - Journal of Medical …, 2018 - jmg.bmj.com
Background Genomic imprinting results from the resistance of germline epigenetic marks to
reprogramming in the early embryo for a small number of mammalian genes. Genetic …

NLRP7: From inflammasome regulation to human disease

J Carriere, A Dorfleutner, C Stehlik - Immunology, 2021 - Wiley Online Library
Nucleotide‐binding oligomerization domain (NOD) and leucine‐rich repeat (LRR)‐
containing receptors or NOD‐like receptors (NLRs) are cytosolic pattern recognition …