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Select item 108237431.

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He

Pediatr Rheumatol Online J. 2024; 22: 24. Published online 2024 Jan 29. doi: 10.1186/s12969-024-00955-7

PMCID:: PMC10823743

Abstract Article PDF–1.3M

Select item 104482762.

Mechanisms controlling membrane recruitment and activation of the autoinhibited SHIP1 inositol 5-phosphatase

Grace L. Waddell, Emma E. Drew, Henry P. Rupp, Scott D. Hansen

J Biol Chem. 2023 Aug; 299(8): 105022. Published online 2023 Jul 7. doi: 10.1016/j.jbc.2023.105022

PMCID:: PMC10448276

Abstract Article PDF–2.9M

Select item 85711563.

The PI3Kδ inhibitor idelalisib impairs the function of human dendritic cells

Christiane Braun, Sebastian Schlaweck, Solveig Nora Daecke, Peter Brossart, Annkristin Heine

Cancer Immunol Immunother. 2021 Dec; 70(12): 3693–3700. Published online 2021 Jun 25. doi: 10.1007/s00262-021-02988-3

PMCID:: PMC8571156

Abstract Article PDF–3.6M

Select item 81138594.

Case Report: Activating PIK3CD Mutation in Patients Presenting With Granulomatosis With Polyangiitis

Meiping Lu, Weizhong Gu, Yuanjian Sheng, Jingjing Wang, Xuefeng Xu

Front Immunol. 2021; 12: 670312. Published online 2021 Apr 28. doi: 10.3389/fimmu.2021.670312

PMCID:: PMC8113859

Abstract Article PDF–1.5M

Select item 81068425.

A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation

Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai, Xin Ni

Orphanet J Rare Dis. 2021; 16: 208. Published online 2021 May 8. doi: 10.1186/s13023-021-01782-9

Correction in:: Orphanet J Rare Dis. 2021; 16: 321.

PMCID:: PMC8106842

Abstract Article PDF–2.5M

Select item 78279806.

LncRNA HOTAIRM1, miR-433-5p and PIK3CD function as a ceRNA network to exacerbate the development of PCOS

Hongmin Guo, Ting Li, Xinhui Sun

J Ovarian Res. 2021; 14: 19. Published online 2021 Jan 23. doi: 10.1186/s13048-020-00742-4

PMCID:: PMC7827980

Abstract Article PDF–1.4M

Select item 72600147.

PIK3Cδ expression by fibroblasts promotes triple-negative breast cancer progression

Teresa Gagliano, Kalpit Shah, Sofia Gargani, Liyan Lao, Mansour Alsaleem, Jianing Chen, Vasileios Ntafis, Penghan Huang, Angeliki Ditsiou, Viviana Vella, Kritika Yadav, Kamila Bienkowska, Giulia Bresciani, Kai Kang, Leping Li, Philip Carter, Graeme Benstead-Hume, Timothy O’Hanlon, Michael Dean, Frances M.G. Pearl, Soo-Chin Lee, Emad A. Rakha, Andrew R. Green, Dimitris L. Kontoyiannis, Erwei Song, Justin Stebbing, Georgios Giamas

J Clin Invest. 2020 Jun 1; 130(6): 3188–3204. Published online 2020 May 11. doi: 10.1172/JCI128313

PMCID:: PMC7260014

Abstract Article PDF–19M

Select item 69893708.

Dysregulated actin dynamics in activated PI3Kδ syndrome

Jacqueline G. Wallace, Pedro Zambrano-Rodas, Wilmer Córdova-Calderón, Santiago Estrada-Turriate, Daniel Mendoza-Quispe, Yesenia Limache Ontiveros, Raif S. Geha, Janet Chou, Craig D. Platt

Clin Immunol. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Clin Immunol. 2020 Jan; 210: 108311. Published online 2019 Nov 21. doi: 10.1016/j.clim.2019.108311

PMCID:: PMC6989370

Abstract Article PDF–701K

Select item 68864429.

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

David J. Swan, Dominik Aschenbrenner, Christopher A. Lamb, Krishnendu Chakraborty, Jonathan Clark, Sumeet Pandey, Karin R. Engelhardt, Rui Chen, Athena Cavounidis, Yuchun Ding, Natalio Krasnogor, Christopher D. Carey, Meghan Acres, Stephanie Needham, Andrew J. Cant, Peter D. Arkwright, Anita Chandra, Klaus Okkenhaug, Holm H. Uhlig, Sophie Hambleton

Haematologica. 2019 Oct; 104(10): e483–e486. doi: 10.3324/haematol.2018.208397

PMCID:: PMC6886442

Article PDF–1.5M

Select item 685943510.

Transcription of PIK3CD in human brain and schizophrenia: regulation by proinflammatory cytokines

Veronica L Hood, Ralph Berger, Robert Freedman, Amanda J Law

Hum Mol Genet. 2019 Oct 1; 28(19): 3188–3198. Published online 2019 May 14. doi: 10.1093/hmg/ddz144

PMCID:: PMC6859435

Abstract Article PDF–45M

Select item 650430011.

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report

Guo-Min Li, Hai-Mei Liu, Wan-Zhen Guan, Hong Xu, Bing-Bing Wu, Jia-Yan Feng, Li Sun

Medicine (Baltimore) 2019 May; 98(18): e15329. Published online 2019 May 3. doi: 10.1097/MD.0000000000015329

PMCID:: PMC6504300

Abstract Article PDF–418K

Select item 639889112.

PIK3CD induces cell growth and invasion by activating AKT/GSK‐3β/β‐catenin signaling in colorectal cancer

Jing‐Song Chen, Jiong‐Qiang Huang, Bing Luo, Shi‐Hao Dong, Rong‐Chang Wang, Ze‐kun Jiang, Ying‐Kang Xie, Wei Yi, Guang‐Ming Wen, Jian‐Feng Zhong

Cancer Sci. 2019 Mar; 110(3): 997–1011. Published online 2019 Jan 29. doi: 10.1111/cas.13931

PMCID:: PMC6398891

Abstract Article PDF–1.6M

Select item 638745313.

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

Sarah Beaussant Cohen, Wayne Bainter, Jared L. Johnson, Ting-Yu Lin, Jenny C.Y. Wong, Jacqueline Wallace, Jennifer Jones, Fatima Mir, Farah Qamar, Lewis C. Cantley, Raif S. Geha, Janet Chou

J Allergy Clin Immunol. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: J Allergy Clin Immunol. 2019 Feb; 143(2): 797–799.e2. Published online 2018 Oct 16. doi: 10.1016/j.jaci.2018.10.005

PMCID:: PMC6387453

Abstract Article PDF–594K

Select item 624622914.

Phase II study of idelalisib, a selective inhibitor of PI3Kδ, for relapsed/refractory classical Hodgkin lymphoma

A. K. Gopal, M. A. Fanale, C. H. Moskowitz, A. R. Shustov, S. Mitra, W. Ye, A. Younes, A. J. Moskowitz

Ann Oncol. 2017 May; 28(5): 1057–1063. Published online 2017 Jan 24. doi: 10.1093/annonc/mdx028

PMCID:: PMC6246229

Abstract Article PDF–359K

Select item 620767715.

Phosphoinositide 3-kinase-delta could be a biomarker for eosinophilic nasal polyps

Jong Seung Kim, Jae Seok Jeong, Kyung Bae Lee, So Ri Kim, Yeong Hun Choe, Sam Hyun Kwon, Seong Ho Cho, Yong Chul Lee

Sci Rep. 2018; 8: 15990. Published online 2018 Oct 30. doi: 10.1038/s41598-018-34345-3

PMCID:: PMC6207677

Abstract Article PDF–2.3M

Select item 610996716.

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

Raquel Ruiz-García, Alexander Vargas-Hernandez, Ivan K. Chinn, Laura S. Angelo, Tram N. Cao, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Qingchang Meng, Lisa R. Forbes, Donna M. Muzny, Luis M. Allende, Mohammed S. Ehlayel, Richard A. Gibbs, James R. Lupski, Gulbu Uzel, Jordan S. Orange, Emily M. Mace

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Aug; 142(2): 605–617.e7. Published online 2018 Jan 10. doi: 10.1016/j.jaci.2017.11.042

PMCID:: PMC6109967

Abstract Article PDF–1.8M

Select item 608293317.

Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8⁺ T Cell Survival, Differentiation, and Function

Jennifer L. Cannons, Silvia Preite, Senta M. Kapnick, Gulbu Uzel, Pamela L. Schwartzberg

Front Immunol. 2018; 9: 1758. Published online 2018 Aug 2. doi: 10.3389/fimmu.2018.01758

PMCID:: PMC6082933

Abstract Article PDF–1.3M

Select item 584587518.

Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency

Emily M. Mace

Front Immunol. 2018; 9: 445. Published online 2018 Mar 7. doi: 10.3389/fimmu.2018.00445

PMCID:: PMC5845875

Abstract Article PDF–570K

Select item 563258519.

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause APDS1 in humans

Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen F. Matthews, Joshua J. McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, Carrie L. Lucas

J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: J Allergy Clin Immunol. 2017 Oct; 140(4): 1152–1156.e10. Published online 2017 Apr 13. doi: 10.1016/j.jaci.2017.03.026

PMCID:: PMC5632585

Article PDF–606K

Select item 556605520.

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie-Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoit Dumont, Delphine Turpin, Etienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Picard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stephan, Sven Kracker

Haematologica. 2017 Jul; 102(7): e278–e281. doi: 10.3324/haematol.2017.167601

PMCID:: PMC5566055

Article PDF–914K

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PMC Links for Gene (Select 5293) (116)
PMC
Homo sapiens beta-1,3-galactosyltransferase 4 (B3GALT4), mRNA
Homo sapiens beta-1,3-galactosyltransferase 4 (B3GALT4), mRNA
gi|1653962450|ref|NM_003782.4|

Nucleotide
PREDICTED: Homo sapiens phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic...
PREDICTED: Homo sapiens phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta (PIK3CD), transcript variant X13, mRNA
gi|2462510101|ref|XM_054337043.1|

Nucleotide
PREDICTED: Homo sapiens phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic...
PREDICTED: Homo sapiens phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta (PIK3CD), transcript variant X35, mRNA
gi|2217268213|ref|XM_047422589.1|

Nucleotide

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