| PHF6 defects most likely result in their loss of function and have a substantial effect on the evolution into the aggressive types of myeloid neoplasms, associated with other concomitant genetic defects including RUNX1 mutations | Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms.
Mori T, Nagata Y, Makishima H, Sanada M, Shiozawa Y, Kon A, Yoshizato T, Sato-Otsubo A, Kataoka K, Shiraishi Y, Chiba K, Tanaka H, Ishiyama K, Miyawaki S, Mori H, Nakamaki T, Kihara R, Kiyoi H, Koeffler HP, Shih LY, Miyano S, Naoe T, Haferlach C, Kern W, Haferlach T, Ogawa S, Yoshida K. | 03/10/2018 |
| The mutations of the gene encoding plant homeodomain (PHD)-like finger protein 6 (PHF6) contribute to the pathogenesis of the X-linked intellectual disability disorder Borjeson-Forssman-Lehmann syndrome. | Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
Jahani-Asl A, Cheng C, Zhang C, Bonni A., Free PMC Article | 02/10/2018 |
| PHF6 localizes to the sub-nucleolar fibrillar center where it binds to rDNA-coding sequences. PHF6 mediates the overall levels of ribosome biogenesis within a cell. | The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events.
Todd MA, Huh MS, Picketts DJ., Free PMC Article | 06/24/2017 |
| Our results suggest that PHF6 may function as an oncogenic factor in several types of cancer. We also hypothesize that PHF6 may also play its role in a tissue-specific manner. Our findings suggest further investigations regarding the exact role of PHF6 in tumor types. | The potential role of PHF6 as an oncogene: a genotranscriptomic/proteomic meta-analysis.
Hajjari M, Salavaty A, Crea F, Kee Shin Y. | 02/18/2017 |
| Female phenotypes of Borjeson-Forssman-Lehmann syndrome patients with PHF6 mutations | Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. | 08/1/2015 |
| Our RBBP4-PHF6 complex structure provides insights into the molecular basis of PHF6-NuRD complex interaction and implicates a role for PHF6 in chromatin structure modulation and gene regulation. | Structural basis of plant homeodomain finger 6 (PHF6) recognition by the retinoblastoma binding protein 4 (RBBP4) component of the nucleosome remodeling and deacetylase (NuRD) complex.
Liu Z, Li F, Zhang B, Li S, Wu J, Shi Y., Free PMC Article | 05/23/2015 |
| Phf6 is a "lineage-specific" cancer gene that plays opposing roles in developmentally distinct hematopoietic malignancies. | A genome-scale in vivo loss-of-function screen identifies Phf6 as a lineage-specific regulator of leukemia cell growth.
Meacham CE, Lawton LN, Soto-Feliciano YM, Pritchard JR, Joughin BA, Ehrenberger T, Fenouille N, Zuber J, Williams RT, Young RA, Hemann MT., Free PMC Article | 04/25/2015 |
| The PHF6 tumor suppressor gene was targeted in acute lymphoblastic leukemia by microRNA-128-3p. | MicroRNA-128-3p is a novel oncomiR targeting PHF6 in T-cell acute lymphoblastic leukemia.
Mets E, Van Peer G, Van der Meulen J, Boice M, Taghon T, Goossens S, Mestdagh P, Benoit Y, De Moerloose B, Van Roy N, Poppe B, Vandesompele J, Wendel HG, Van Vlierberghe P, Speleman F, Rondou P., Free PMC Article | 04/18/2015 |
| Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. | Distinct phenotype of PHF6 deletions in females.
Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. | 01/24/2015 |
| Recurrent microdeletion was detected in Xq26.3, causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia. | Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis.
Kunze K, Gamerdinger U, Leßig-Owlanj J, Sorokina M, Brobeil A, Tur MK, Blau W, Burchardt A, Käbisch A, Schliesser G, Kiehl M, Rosenwald A, Rummel M, Grimminger F, Hain T, Chakraborty T, Bräuninger A, Gattenlöhner S. | 12/20/2014 |
| The findings show that de novo mutations in PHF6 in females result in a recognisable phenotype which overlap with Borjeson-Forssman-Lehmann syndrome but also has additional distinct features, thus adding a new facet to this disorder. | A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D. | 08/9/2014 |
| these data support the hypothesis that PHF6 may function as a transcriptional repressor using its ePHD domains binding to the promoter region of its repressed gene | Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z, Li F, Ruan K, Zhang J, Mei Y, Wu J, Shi Y., Free PMC Article | 05/31/2014 |
| Data suggest that mutations of PHF6 are associated with chronic myeloid leukemia (CML) progression. | Somatic mutations of PHF6 in patients with chronic myeloid leukemia in blast crisis.
Li X, Yao H, Chen Z, Wang Q, Zhao Y, Chen S. | 07/27/2013 |
| These results reveal that the key function of PHF6 is involved in regulating rRNA synthesis, which may contribute to its roles in cell cycle control, genomic maintenance, and tumor suppression. | PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.
Wang J, Leung JW, Gong Z, Feng L, Shi X, Chen J., Free PMC Article | 03/30/2013 |
| PHF6 interacts with the nucleosome remodeling and deacetylation complex and is localized primarily in the nucleoplasm and nucleolus. | PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
Todd MA, Picketts DJ. | 12/8/2012 |
| in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214. | Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
Wang Q, Qiu H, Jiang H, Wu L, Dong S, Pan J, Wang W, Ping N, Xia J, Sun A, Wu D, Xue Y, Drexler HG, Macleod RA, Chen S., Free PMC Article | 04/7/2012 |
| Our data suggest that PHF6 mutation might play a role in tumorigenesis not only of T-cell acute lymphoblatic leukemia, but also acute myelogenous leukemia and hepatocellular carcinoma. | Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma.
Yoo NJ, Kim YR, Lee SH. | 03/31/2012 |
| PHF6 as a tumor suppressor gene mutated in acute myeloid leukemias (AML) and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors. | PHF6 mutations in adult acute myeloid leukemia.
Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat CV, Balbin M, Nicolas C, Payer AR, Fernandez HF, Tallman MS, Paietta E, Melnick A, Vandenberghe P, Speleman F, Aifantis I, Cools J, Levine R, Ferrando A., Free PMC Article | 02/26/2011 |
| Borjeson-Forssman-Lehmann syndrome (BFLS) may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-cell acute lymphoblastic leukemia. | T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
Chao MM, Todd MA, Kontny U, Neas K, Sullivan MJ, Hunter AG, Picketts DJ, Kratz CP., Free PMC Article | 10/4/2010 |
| these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease. | PHF6 mutations in T-cell acute lymphoblastic leukemia.
Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippé J, González-García S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao X, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A., Free PMC Article | 04/19/2010 |
| we describe a novel mutation that changes a residue within the first plant homeodomain zinc finger motif of PHF6 in a family with classical features of Borjeson-Forssman-Lehmann syndrome | Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ. | 01/21/2010 |
| By finding a PHF-6 mutation in a family with Borjeson-Forssman-Lehmann syndrome it was speculated that there is a mutational hot spot in the gene. | 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Malm G, Börjeson M, Turner G, Partington M, Gécz J. | 01/21/2010 |
| novel mutation results in exon skipping and mild Borjeson-Forssman-Lehmann syndrome | A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ., Free PMC Article | 01/21/2010 |
| A study of 9 families with PHF6 muations revealed that the phenotype is milder and more variable than previously described and evolves with age; seven missense mutations and two truncation mutations were identifed | The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. | 01/21/2010 |
| "The gene, PHF6, implicated in the Borjeson-Forssman-Lehmann syndrome has recently been identified." p. 1295 | Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.
Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, Wright M, Cheetham TD. | 01/21/2010 |