| HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. | HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics.
Kjeldsen EW, Thomassen JQ, Frikke-Schmidt R. | 01/1/2022 |
| Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. | Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H, Liu D, Liu W, Wang G, Chen L, Cao Y, Wei J, Xiao M, Liu X, Huang G, Wang W, Zhou J, Wang QF., Free PMC Article | 09/4/2021 |
| data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8. | Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
Karampini E, Schillemans M, Hofman M, van Alphen F, de Boer M, Kuijpers TW, van den Biggelaar M, Voorberg J, Bierings R., Free PMC Article | 07/11/2020 |
| point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively | Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M, van Leeuwen K, Geissler J, van Alphen F, de Vries E, van der Kuip M, Terheggen SWJ, Janssen H, van den Berg TK, Meijer AB, Roos D, Kuijpers TW. | 05/12/2018 |
| Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. | Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
Gao L, Zhu L, Huang L, Zhou J. | 08/6/2016 |
| Using a co-affinity purification strategy, authors have identified the beta subunit of the AP-3 adapter protein complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus. | Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes.
Sun W, McCrory TS, Khaw WY, Petzing S, Myers T, Schmitt AP., Free PMC Article | 02/14/2015 |
| Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3. | AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.
Ivan V, Martinez-Sanchez E, Sima LE, Oorschot V, Klumperman J, Petrescu SM, van der Sluijs P., Free PMC Article | 08/30/2014 |
| 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 |
| 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 |
| The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1. | Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
Wenham M, Grieve S, Cummins M, Jones ML, Booth S, Kilner R, Ancliff PJ, Griffiths GM, Mumford AD., Free PMC Article | 05/31/2010 |
| diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles. | Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release.
Azevedo C, Burton A, Ruiz-Mateos E, Marsh M, Saiardi A., Free PMC Article | 02/15/2010 |
| Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts. | Exploring the human genome with functional maps.
Huttenhower C, Haley EM, Hibbs MA, Dumeaux V, Barrett DR, Coller HA, Troyanskaya OG., Free PMC Article | 01/21/2010 |
| AP-1 and AP-3 are involved in the formation of distinct types of clathrin-coated vesicles, each of which is characterized by the incorporation of specific cargo membrane proteins | AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.
Chapuy B, Tikkanen R, Mühlhausen C, Wenzel D, von Figura K, Höning S. | 01/21/2010 |
| Mutations in AP3B1 is not associated with familial hemophagocytic lymphohistiocytosis | Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
Ma D, Rudd E, Edner J, Gavhed S, Ramme KG, Fadeel B, Nordenskjöld M, Henter JI, Zheng C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) 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. Association analysis between schizophrenia and the AP-3 complex genes.
Hashimoto R, Ohi K, Okada T, Yasuda Y, Yamamori H, Hori H, Hikita T, Taya S, Saitoh O, Kosuga A, Tatsumi M, Kamijima K, Kaibuchi K, Takeda M, Kunugi H. Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Fernandez LP, Milne RL, Pita G, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G. Gene variants associated with ischemic stroke: the cardiovascular health study.
Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.
Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR, Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane JP, Ellis SG, Tracy RP, Devlin JJ, Psaty BM. A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease.
Luke MM, Kane JP, Liu DM, Rowland CM, Shiffman D, Cassano J, Catanese JJ, Pullinger CR, Leong DU, Arellano AR, Tong CH, Movsesyan I, Naya-Vigne J, Noordhof C, Feric NT, Malloy MJ, Topol EJ, Koschinsky ML, Devlin JJ, Ellis SG. | 03/13/2008 |
| Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) | Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
Huizing M, Gahl WA. | 01/21/2010 |
| Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency. | Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. | 01/21/2010 |
| A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis. | Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S. | 01/21/2010 |
| We defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus perturbs proper assembly of the heterotetrameric AP-3 complex. | Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C., Free PMC Article | 01/21/2010 |