| Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women. | Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
Aparicio-Bautista DI, Jiménez-Ortega RF, Becerra-Cervera A, Aquino-Gálvez A, de León-Suárez VP, Casas-Ávila L, Salmerón J, Hidalgo-Bravo A, Rivera-Paredez B, Velázquez-Cruz R., Free PMC Article | 06/3/2024 |
| Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. | Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE., Free PMC Article | 05/7/2022 |
| The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation. | The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.
Tsai DJ, Fang WH, Wu LW, Tai MC, Kao CC, Huang SM, Chen WT, Hsiao PJ, Chiu CC, Su W, Wu CC, Su SL., Free PMC Article | 04/30/2022 |
| Uveal melanoma-associated mutations in PLCbeta4 are constitutively activating and promote melanocyte proliferation and tumorigenesis. | Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.
Phan HTN, Kim NH, Wei W, Tall GG, Smrcka AV., Free PMC Article | 01/29/2022 |
| Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients. | Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
Hou C, Xiao L, Ren X, Tang F, Guo B, Zeng W, Liang C, Yan N. | 03/27/2021 |
| A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity. | A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
Nabil A, El Shafei S, El Shakankiri NM, Habib A, Morsy H, Maddirevula S, Alkuraya FS. | 01/2/2021 |
| Dysregulation of primary PLC signaling is linked to several brain disorders including epilepsy, schizophrenia, bipolar disorder, Huntington's disease, depression and Alzheimer's disease. (Review) | Primary phospholipase C and brain disorders.
Yang YR, Kang DS, Lee C, Seok H, Follo MY, Cocco L, Suh PG. | 11/18/2017 |
| Novel pathogenic variants in PLCB4 have been found in two of three index patients with typical Auriculocondylar syndrome. | Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. | 11/4/2017 |
| Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect. | Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G. | 10/28/2017 |
| PLCB4 copy gain and PLCB4 overexpression is associated with gastrointestinal stromal tumors. | PLCB4 copy gain and PLCß4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.
Li CF, Liu TT, Chuang IC, Chen YY, Fang FM, Chan TC, Li WS, Huang HY., Free PMC Article | 10/14/2017 |
| recurrent mutation in PLCB4 is associated with uveal melanoma. | Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK., Free PMC Article | 10/29/2016 |
| Polymorphism of the PLCB4/B1 genes might be involved in the coronary artery aneurysm pathogenesis of Kawasaki disease. | Genetic variants in PLCB4/PLCB1 as susceptibility loci for coronary artery aneurysm formation in Kawasaki disease in Han Chinese in Taiwan.
Lin YJ, Chang JS, Liu X, Tsang H, Chien WK, Chen JH, Hsieh HY, Hsueh KC, Shiao YT, Li JP, Lin CW, Lai CH, Wu JY, Chen CH, Lin JG, Lin TH, Liao CC, Huang SM, Lan YC, Ho TJ, Liang WM, Yeh YC, Lin JC, Tsai FJ., Free PMC Article | 08/20/2016 |
| Phospholipase C-beta1 and beta4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells. | Phospholipase C-β1 and β4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells.
Ishida S, Matsu-Ura T, Fukami K, Michikawa T, Mikoshiba K., Free PMC Article | 11/22/2014 |
| This study demonistrated by Gene expression profile that PLCB4 upregulaion in fibroblasts of Huntington's disease patients. | Gene expression profile in fibroblasts of Huntington's disease patients and controls.
Marchina E, Misasi S, Bozzato A, Ferraboli S, Agosti C, Rozzini L, Borsani G, Barlati S, Padovani A. | 10/11/2014 |
| Auriculocondylar syndrome is caused by PLCB4 mutations inherited not only in an autosomal dominant manner (catalytic domain missense mutations) but also inherited as autosomal recessive (complete loss of function). | Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. | 03/29/2014 |
| PLCbeta4 is enriched at the plasma membrane. | PLCβ isoforms differ in their subcellular location and their CT-domain dependent interaction with Gαq.
Adjobo-Hermans MJ, Crosby KC, Putyrski M, Bhageloe A, van Weeren L, Schultz C, Goedhart J, Gadella TW Jr. | 05/4/2013 |
| The phenotypic variability of auriculocondylar syndrome suggests that mutations in this pathway, especially those affecting core signaling molecules such as PLCB4 and GNAI3, should be considered as potential candidates for other ear and jaw malformations. | A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML., Free PMC Article | 06/30/2012 |
| The significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count, is demonstrated. | Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.
Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N, Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N. | 07/26/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | See all PubMed (2) articlesVariation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
Segat L, Brandão LAC, Guimarães RL, Pontillo A, Athanasakis E, de Oliveira RM, Arraes LC, de Lima Filho JL, Crovella S. | 06/30/2010 |
| Presence of PLCbeta(4) in the heart and in HL-1 cardiomyocytes showing a different species-dependent pattern of expression of the PLCbeta((1-4)) transcripts. | Phospholipase Cbeta4 isozyme is expressed in human, rat, and murine heart left ventricles and in HL-1 cardiomyocytes.
Otaegui D, Querejeta R, Arrieta A, Lazkano A, Bidaurrazaga A, Arriandiaga JR, Aldazabal P, Garro MA. | 06/28/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.
Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N, Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N. | 04/7/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesCircadian clock gene polymorphisms in alcohol use disorders and alcohol consumption.
Kovanen L, Saarikoski ST, Haukka J, Pirkola S, Aromaa A, Lönnqvist J, Partonen T. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, Guitart M, Martín-Santos R, Menchón JM, Navinés R, Soria V, Torrens M, Urretavizcaya M, Vallès V, Gratacòs M, Estivill X. CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.
Sjöholm LK, Kovanen L, Saarikoski ST, Schalling M, Lavebratt C, Partonen T. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.
Englund A, Kovanen L, Saarikoski ST, Haukka J, Reunanen A, Aromaa A, Lönnqvist J, Partonen T. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. | 01/11/2009 |