| Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases. | Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.
Marziali E, Landini S, Fiorentini E, Rocca C, Tiberi L, Artuso R, Zaroili L, Dirupo E, Fortunato P, Bargiacchi S, Caputo R, Bacci GM. | 10/30/2024 |
| Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder. | Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Morison LD, Van Reyk O, Baker E, Ruaud L, Couque N, Verloes A, Amor DJ, Morgan AT. | 03/20/2024 |
| Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Canakkale with intellectual disability and dysmorphic facies: Case report and review of the literature. | Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.
Kose CC, Kaya D, Akcan MB, Silan F. | 09/11/2023 |
| Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer. | Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer.
Ling J, Tang Z, Yang W, Li Y, Dong X. | 09/11/2023 |
| Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer. | Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer.
Cheng CL, Tsang FH, Wei L, Chen M, Chin DW, Shen J, Law CT, Lee D, Wong CC, Ng IO, Wong CM., Free PMC Article | 11/13/2021 |
| Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin. | Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin.
Klein BJ, Cox KL, Jang SM, Côté J, Poirier MG, Kutateladze TG., Free PMC Article | 10/3/2020 |
| Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma. | Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.
Aiello G, Ballabio C, Ruggeri R, Fagnocchi L, Anderle M, Morassut I, Caron D, Garilli F, Gianno F, Giangaspero F, Piazza S, Romanel A, Zippo A, Tiberi L. | 09/26/2020 |
| data indicate that aberrations in the chromatin regulator gene BRPF1 cause histone H3 acetylation deficiency and a previously unrecognized intellectual disability syndrome | Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W, DDD Study, CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ., Free PMC Article | 05/27/2017 |
| comparison of the clinical symptoms of individuals carrying mutations or small deletions of BRPF1 alone or SETD5 alone with those of individuals with deletions encompassing both BRPF1 and SETD5; leads to conclusion that both genes contribute to the phenotypic severity of 3p25 deletion syndrome but that some specific features, such as ptosis and blepharophimosis, are mostly driven by BRPF1 haploinsufficiency | Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A., Free PMC Article | 05/27/2017 |
| critical insights into the molecular mechanism of ligand binding by the BRPF1 bromodomain | Structural insights into recognition of acetylated histone ligands by the BRPF1 bromodomain.
Lubula MY, Eckenroth BE, Carlson S, Poplawski A, Chruszcz M, Glass KC., Free PMC Article | 01/24/2015 |
| MOZ-TIF2/BRPF1 complex upregulates HOX genes mediated by MOZ-dependent histone acetylation, leading to the development of leukemia. | Bromodomain-PHD finger protein 1 is critical for leukemogenesis associated with MOZ-TIF2 fusion.
Shima H, Yamagata K, Aikawa Y, Shino M, Koseki H, Shimada H, Kitabayashi I. | 07/19/2014 |
| novel interactions of the BRPF1 bromodomain with multiple acetyllysine residues on the N-terminus of histones show that it preferentially selects for H2AK5ac, H4K12ac, and H3K14ac | Molecular insights into the recognition of N-terminal histone modifications by the BRPF1 bromodomain.
Poplawski A, Hu K, Lee W, Natesan S, Peng D, Carlson S, Shi X, Balaz S, Markley JL, Glass KC., Free PMC Article | 06/14/2014 |
| 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 |
| Observational study of gene-disease association. (HuGE Navigator) | 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., Free PMC Article | 09/15/2010 |
| Identified is the PWWP domain of bromo and plant homeodomain (PHD) finger-containing protein 1 (BRPF1) as a histone H3 (H3K36me3) binding module; determined is the structure of this domain in complex with an H3K36me3-derived peptide. | Molecular basis of histone H3K36me3 recognition by the PWWP domain of Brpf1.
Vezzoli A, Bonadies N, Allen MD, Freund SM, Santiveri CM, Kvinlaug BT, Huntly BJ, Göttgens B, Bycroft M. | 05/31/2010 |