PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. | PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC, PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ., | 01/26/2024 |
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. | Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR., | 01/26/2024 |
The hypermorphic PLCgamma2 S707Y variant dysregulates microglial cell function - Insight into PLCgamma2 activation in brain health and disease, and opportunities for therapeutic modulation. | The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation. Bull D, Matte JC, Navarron CM, McIntyre R, Whiting P, Katan M, Ducotterd F, Magno L. | 01/5/2024 |
A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia. | A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia. Itakura T, Sasaki H, Hosoya T, Yamaguchi T, Mimori E, Saimon Y, Iwai H, Umezawa N, Kawata D, Kimura N, Kurata M, Shimizu M, Yasuda S. | 11/13/2023 |
Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells. | Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells. Obata Y, Kurokawa K, Tojima T, Natsume M, Shiina I, Takahashi T, Abe R, Nakano A, Nishida T. | 10/5/2023 |
BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib. | BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib. Bonfiglio S, Sutton LA, Ljungström V, Capasso A, Pandzic T, Weström S, Foroughi-Asl H, Skaftason A, Gellerbring A, Lyander A, Gandini F, Gaidano G, Trentin L, Bonello L, Reda G, Bödör C, Stavroyianni N, Tam CS, Marasca R, Forconi F, Panayiotidis P, Ringshausen I, Jaksic O, Frustaci AM, Iyengar S, Coscia M, Mulligan SP, Ysebaert L, Strugov V, Pavlovsky C, Walewska R, Österborg A, Cortese D, Ranghetti P, Baliakas P, Stamatopoulos K, Scarfò L, Rosenquist R, Ghia P., Free PMC Article | 06/22/2023 |
Carriers of the p.P522R variant in PLCgamma2 have a slightly more responsive immune system. | Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system. Diks AM, Teodosio C, de Mooij B, Groenland RJ, Naber BAE, de Laat IF, Vloemans SA, Rohde S, de Jonge MI, Lorenz L, Horsten D, van Dongen JJM, Berkowska MA, Holstege H., Free PMC Article | 05/5/2023 |
The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model. | The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model. Claes C, England WE, Danhash EP, Kiani Shabestari S, Jairaman A, Chadarevian JP, Hasselmann J, Tsai AP, Coburn MA, Sanchez J, Lim TE, Hidalgo JLS, Tu C, Cahalan MD, Lamb BT, Landreth GE, Spitale RC, Blurton-Jones M, Davtyan H., Free PMC Article | 10/29/2022 |
Heterozygous expression of the Alzheimer's disease-protective PLCgamma2 P522R variant enhances Abeta clearance while preserving synapses. | Heterozygous expression of the Alzheimer's disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses. Solomon S, Sampathkumar NK, Carre I, Mondal M, Chennell G, Vernon AC, Ruepp MD, Mitchell JC., Free PMC Article | 08/6/2022 |
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer's disease. | PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer's disease. Tsai AP, Dong C, Lin PB, Messenger EJ, Casali BT, Moutinho M, Liu Y, Oblak AL, Lamb BT, Landreth GE, Bissel SJ, Nho K., Free PMC Article | 04/23/2022 |
Mechanisms of Resistance to Noncovalent Bruton's Tyrosine Kinase Inhibitors. | Mechanisms of Resistance to Noncovalent Bruton's Tyrosine Kinase Inhibitors. Wang E, Mi X, Thompson MC, Montoya S, Notti RQ, Afaghani J, Durham BH, Penson A, Witkowski MT, Lu SX, Bourcier J, Hogg SJ, Erickson C, Cui D, Cho H, Singer M, Totiger TM, Chaudhry S, Geyer M, Alencar A, Linley AJ, Palomba ML, Coombs CC, Park JH, Zelenetz A, Roeker L, Rosendahl M, Tsai DE, Ebata K, Brandhuber B, Hyman DM, Aifantis I, Mato A, Taylor J, Abdel-Wahab O., Free PMC Article | 03/5/2022 |
Signatures of plasticity, metastasis, and immunosuppression in an atlas of human small cell lung cancer. | Signatures of plasticity, metastasis, and immunosuppression in an atlas of human small cell lung cancer. Chan JM, Quintanal-Villalonga Á, Gao VR, Xie Y, Allaj V, Chaudhary O, Masilionis I, Egger J, Chow A, Walle T, Mattar M, Yarlagadda DVK, Wang JL, Uddin F, Offin M, Ciampricotti M, Qeriqi B, Bahr A, de Stanchina E, Bhanot UK, Lai WV, Bott MJ, Jones DR, Ruiz A, Baine MK, Li Y, Rekhtman N, Poirier JT, Nawy T, Sen T, Mazutis L, Hollmann TJ, Pe'er D, Rudin CM., Free PMC Article | 01/8/2022 |
PLCgamma2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages. | PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages. Obst J, Hall-Roberts HL, Smith TB, Kreuzer M, Magno L, Di Daniel E, Davis JB, Mead E., Free PMC Article | 01/1/2022 |
TREM2/PLCgamma2 signalling in immune cells: function, structural insight, and potential therapeutic modulation. | TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation. Magno L, Bunney TD, Mead E, Svensson F, Bictash MN., Free PMC Article | 12/18/2021 |
Phospholipase Cgamma2 regulates endocannabinoid and eicosanoid networks in innate immune cells. | Phospholipase Cγ2 regulates endocannabinoid and eicosanoid networks in innate immune cells. Jing H, Reed A, Ulanovskaya OA, Grigoleit JS, Herbst DM, Henry CL, Li H, Barbas S, Germain J, Masuda K, Cravatt BF., Free PMC Article | 12/18/2021 |
The role of PLCgamma2 in immunological disorders, cancer, and neurodegeneration. | The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration. Jackson JT, Mulazzani E, Nutt SL, Masters SL., Free PMC Article | 12/4/2021 |
PLCG2 rs72824905 Variant Reduces the Risk of Alzheimer's Disease and Multiple Sclerosis. | PLCG2 rs72824905 Variant Reduces the Risk of Alzheimer's Disease and Multiple Sclerosis. Chen F, Zhang Y, Wang L, Wang T, Han Z, Zhang H, Gao S, Hu Y, Liu G. | 11/13/2021 |
Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy. | Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy. Strickland SL, Morel H, Prusinski C, Allen M, Patel TA, Carrasquillo MM, Conway OJ, Lincoln SJ, Reddy JS, Nguyen T, Malphrus KG, Soto AI, Walton RL, Crook JE, Murray ME, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Uitti RJ, Wszolek ZK, Ross OA, Graff-Radford NR, Dickson DW, Ertekin-Taner N., Free PMC Article | 11/13/2021 |
Case Report: A Rare Case of Autoinflammatory Phospholipase Cgamma2 (PLCgamma2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review. | Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review. Wu N, Zhang B, Wang T, Shen M, Zeng X., Free PMC Article | 10/30/2021 |
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. | Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI., Free PMC Article | 10/9/2021 |
Neutrophil Phospholipase Cgamma2 Drives Autoantibody-Induced Arthritis Through the Generation of the Inflammatory Microenvironment. | Neutrophil Phospholipase Cγ2 Drives Autoantibody-Induced Arthritis Through the Generation of the Inflammatory Microenvironment. Futosi K, Kása O, Szilveszter KP, Mócsai A. | 09/25/2021 |
Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes. | Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes. Olive C, Ibanez L, Farias FHG, Wang F, Budde JP, Norton JB, Gentsch J, Morris JC, Li Z, Dube U, Del-Aguila J, Bergmann K, Bradley J, Benitez BA, Harari O, Fagan A, Ances B, Cruchaga C, Fernandez MV., Free PMC Article | 09/11/2021 |
The Alzheimer's disease-associated protective Plcgamma2-P522R variant promotes immune functions. | The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions. Takalo M, Wittrahm R, Wefers B, Parhizkar S, Jokivarsi K, Kuulasmaa T, Mäkinen P, Martiskainen H, Wurst W, Xiang X, Marttinen M, Poutiainen P, Haapasalo A, Hiltunen M, Haass C., Free PMC Article | 08/28/2021 |
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment. | PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment. Kleineidam L, Chouraki V, Próchnicki T, van der Lee SJ, Madrid-Márquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen IE, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frölich L, Tzourio C, Dartigues JF, Hüll M, Espinosa A, Hernández I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman M, Scheltens P, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Rüther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, González-Pérez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Sáez ME, Latz E, Ruiz A, Ramirez A., Free PMC Article | 08/21/2021 |
A novel somatic PLCG2 variant associated with resistance to BTK and SYK inhibition in chronic lymphocytic leukemia. | A novel somatic PLCG2 variant associated with resistance to BTK and SYK inhibition in chronic lymphocytic leukemia. Raghunathan V, Fan G, Kittai AS, Okada C, Danilov AV, Spurgeon SE. | 07/31/2021 |