Phospholipase C families: Common themes and versatility in physiology and pathology
M Katan, S Cockcroft - Progress in lipid research, 2020 - Elsevier
Abstract Phosphoinositide-specific phospholipase Cs (PLCs) are expressed in all
mammalian cells and play critical roles in signal transduction. To obtain a comprehensive …
mammalian cells and play critical roles in signal transduction. To obtain a comprehensive …
TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation
L Magno, TD Bunney, E Mead, F Svensson… - Molecular …, 2021 - Springer
The central role of the resident innate immune cells of the brain (microglia) in
neurodegeneration has become clear over the past few years largely through genome-wide …
neurodegeneration has become clear over the past few years largely through genome-wide …
G-CSF drives autoinflammation in APLAID
Missense mutations in PLCG2 can cause autoinflammation with phospholipase C gamma 2-
associated antibody deficiency and immune dysregulation (APLAID). Here, we generated a …
associated antibody deficiency and immune dysregulation (APLAID). Here, we generated a …
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
A Martín-Nalda, C Fortuny, L Rey, TD Bunney… - Journal of Clinical …, 2020 - Springer
Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by
recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the …
recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the …
There is no gene for CVID—novel monogenetic causes for primary antibody deficiency
NJ Ramirez, S Posadas-Cantera… - Current Opinion in …, 2021 - Elsevier
'There is no gene for fate'(citation from the movie 'GATTACA')—and there is no gene for
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
K Baysac, G Sun, H Nakano, EG Schmitz… - Journal of Allergy and …, 2024 - Elsevier
Background Pathogenic variants of phospholipase C gamma 2 (PLCG2) cause 2 related
forms of autosomal-dominant immune dysregulation (ID), PLCγ2-associated antibody …
forms of autosomal-dominant immune dysregulation (ID), PLCγ2-associated antibody …
Activation mechanisms and diverse functions of mammalian phospholipase C
K Kanemaru, Y Nakamura - Biomolecules, 2023 - mdpi.com
Phospholipase C (PLC) plays pivotal roles in regulating various cellular functions by
metabolizing phosphatidylinositol 4, 5-bisphosphate in the plasma membrane. This process …
metabolizing phosphatidylinositol 4, 5-bisphosphate in the plasma membrane. This process …
Identification of genes related to immune enhancement caused by heterologous ChAdOx1–BNT162b2 vaccines in lymphocytes at single-cell resolution with machine …
J Li, FM Huang, QL Ma, W Guo, KY Feng… - Frontiers in …, 2023 - frontiersin.org
The widely used ChAdOx1 nCoV-19 (ChAd) vector and BNT162b2 (BNT) mRNA vaccines
have been shown to induce robust immune responses. Recent studies demonstrated that …
have been shown to induce robust immune responses. Recent studies demonstrated that …
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing
R Trifiletti, HM Lachman, O Manusama, D Zheng… - Scientific reports, 2022 - nature.com
Abrupt onset of severe neuropsychiatric symptoms including obsessive–compulsive
disorder, tics, anxiety, mood swings, irritability, and restricted eating is described in children …
disorder, tics, anxiety, mood swings, irritability, and restricted eating is described in children …
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review
T Welzel, L Oefelein, U Holzer, A Müller… - Journal of clinical …, 2022 - mdpi.com
Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-
associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and …
associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and …