| Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis? | Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?
Batis H, Almugairi A, Almugren O, Aljabry M, Alqahtani F, Elbashir E, Elfaki M, Alsultan A. | 05/14/2022 |
| Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets. | Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
Psaila B, Wang G, Rodriguez-Meira A, Li R, Heuston EF, Murphy L, Yee D, Hitchcock IS, Sousos N, O'Sullivan J, Anderson S, Senis YA, Weinberg OK, Calicchio ML, NIH Intramural Sequencing Center, Iskander D, Royston D, Milojkovic D, Roberts I, Bodine DM, Thongjuea S, Mead AJ., Free PMC Article | 08/29/2020 |
| Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2. | Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B.
Vögtle T, Sharma S, Mori J, Nagy Z, Semeniak D, Scandola C, Geer MJ, Smith CW, Lane J, Pollack S, Lassila R, Jouppila A, Barr AJ, Ogg DJ, Howard TD, McMiken HJ, Warwicker J, Geh C, Rowlinson R, Abbott WM, Eckly A, Schulze H, Wright GJ, Mazharian A, Fütterer K, Rajesh S, Douglas MR, Senis YA., Free PMC Article | 02/8/2020 |
| Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly. | Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.
Chen H, Zheng J, Chen Z, Ma H, Zhang R, Wu R. | 08/31/2019 |
| Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function. | Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA., Free PMC Article | 08/3/2019 |
| G6B seems to act through an autosomal recessive mode of disease transmission in this family and regarded as the gene responsible for the observed hematological disorder. | Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.
Melhem M, Abu-Farha M, Antony D, Madhoun AA, Bacchelli C, Alkayal F, AlKhairi I, John S, Alomari M, Beales PL, Alsmadi O. | 02/25/2017 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation 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., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGene-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. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.
Valdes AM, Thomson G, Type 1 Diabetes Genetics Consortium. | 03/25/2009 |
| G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2. | G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2.
Mori J, Pearce AC, Spalton JC, Grygielska B, Eble JA, Tomlinson MG, Senis YA, Watson SP., Free PMC Article | 01/21/2010 |
| G6b-B expression is highly restricted to peripheral CD4+ T cells and up-regulated by the IL-4-induced STAT6 pathway, suggesting that G6b-B is involved in regulation of the immune response by CD4+ T cell-mediated and IL-4 induced regulatory mechanisms. | G6b-B cell surface inhibitory receptor expression is highly restricted to CD4+ T-cells and induced by interleukin-4-activated STAT6 pathway.
Li J, Cadeiras M, Prinz von Bayern M, Zhang L, Colovai AI, Dedrick R, Jaffe EA, Suciu-Foca N, Deng MC. | 01/21/2010 |
| Heparin might modulate the interaction of G6b with its as yet unidentified protein ligand | The cell surface receptor G6b, a member of the immunoglobulin superfamily, binds heparin.
de Vet EC, Newland SA, Lyons PA, Aguado B, Campbell RD. | 01/21/2010 |
| G6B represents a novel inhibitory receptor found on the surface of platelets | The novel inhibitory receptor G6B is expressed on the surface of platelets and attenuates platelet function in vitro.
Newland SA, Macaulay IC, Floto AR, de Vet EC, Ouwehand WH, Watkins NA, Lyons PA, Campbell DR. | 01/21/2010 |