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PHD finger protein 6

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010] (from NCBI)
Top mentioned proteins: CAN, HAD, SET, p300, Cdc4
Papers on PHF6
Do somatic mutations in de novo MDS predict for response to treatment?
DeZern et al., Saint Louis, United States. In Hematology Am Soc Hematol Educ Program, Jan 2016
These studies showed mutations in TET2 (exons 1- 9 tested) and PHF6 (exons 1-9 tested).
The potential role of PHF6 as an oncogene: a genotranscriptomic/proteomic meta-analysis.
Kee Shin et al., Ahvāz, Iran. In Tumour Biol, Dec 2015
Nucleosome remodeling and deacetylase (NuRD) is an epigenetic complex that comprises several subunits such as PHF6.
Genetic mutational profiling analysis of T cell acute lymphoblastic leukemia reveal mutant FBXW7 as a prognostic indicator for inferior survival.
Bao et al., Chongqing, China. In Ann Hematol, Nov 2015
In this prospective study of 83 Chinese patients (54 children and 29 adults) with de novo T-ALL, we analyzed mutations in 11 T-ALL genes: NOTCH1, FBXW7, PHF6, PTEN, N-RAS, K-RAS, WT1, IL7R, PIK3CA, PIK3RA, and AKT1.
Targeted sequencing identifies associations between IL7R-JAK mutations and epigenetic modulators in T-cell acute lymphoblastic leukemia.
Cools et al., Leuven, Belgium. In Haematologica, Oct 2015
Furthermore, we identified complex patterns of pairwise associations, including a significant association between mutations in IL7R-JAK genes and epigenetic regulators (WT1, PRC2, PHF6).
Identification of key amino acids responsible for the distinct aggregation properties of microtubule-associated protein 2 and tau.
Miyasaka et al., Dalian, China. In J Neurochem, Oct 2015
Exchanging (221) YKPV(224) of tau (0N3R) near the PHF6 motif for (340) TKKI(343) of MAP2c profoundly changed aggregation properties, suggesting that the YKPV motif is important for filament formation, whereas the TKKI motif is for granule formation.
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Petersen et al., Aalborg, Denmark. In Mol Syndromol, Oct 2015
A filtering process searching for nonsynonymous variants and variants in the exon-intron boundaries revealed one variant, c.1A>G; pM1V, in the first codon of the PHF6 gene.
(1)H, (13)C and (15)N resonance assignments and secondary structure of the human PHF6-ePHD1 domain.
Shi et al., Hefei, China. In Biomol Nmr Assign, Sep 2015
UNASSIGNED: The plant homeodomain (PHD) finger 6 (PHF6) is a multidomain protein that comprises four nuclear localization signals and two extended PHD zinc finger domains (ePHD), suggesting that the PHD domains of PHF6 may have different functions compared with other PHD domains.
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Picketts et al., Ottawa, Canada. In Genes (basel), 2014
While such mutations were first identified in severe developmental disorders, or in specific cancers, several genes have been implicated in both, including the plant homeodomain finger protein 6 (PHF6) gene.
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Carey et al., In Am J Med Genet C Semin Med Genet, 2014
The identification of two additional causative genes (PHF6, SOX11) followed.
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Wieczorek et al., In Am J Med Genet C Semin Med Genet, 2014
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and linear skin hyperpigmentation.
Recent discoveries in molecular characterization of acute myeloid leukemia.
Abdel-Wahab et al., Huntington, United States. In Curr Hematol Malig Rep, 2014
Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6.
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
Levine et al., New York City, United States. In N Engl J Med, 2012
We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 and PHF6 were associated with reduced overall survival (P=0.001 for FLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival (P=0.05 for CEBPA and P=0.01 for IDH2).
Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma.
Lee et al., Seoul, South Korea. In Acta Oncol, 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.
Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
Chen et al., China. In Haematologica, 2011
in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214.
A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL).
Wendel et al., New York City, United States. In Nat Genet, 2011
Moreover, these miRNAs produce overlapping and cooperative effects on tumor suppressor genes implicated in the pathogenesis of T-ALL, including IKAROS (also known as IKZF1), PTEN, BIM, PHF6, NF1 and FBXW7.
PHF6 mutations in adult acute myeloid leukemia.
Ferrando et al., New York City, United States. In Leukemia, 2011
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.
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
Kratz et al., Washington, D.C., United States. In Pediatr Blood Cancer, 2010
Borjeson-Forssman-Lehmann syndrome (BFLS) may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-cell acute lymphoblastic leukemia.
PHF6 mutations in T-cell acute lymphoblastic leukemia.
Ferrando et al., New York City, United States. In Nat Genet, 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.
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Gécz et al., Adelaide, Australia. In Nat Genet, 2002
A novel, widely expressed zinc-finger (plant homeodomain[PHD]-like finger) gene had 8 different missense and truncation mutations in 7 familial and 2 sporadic cases of BFLS (p. 661).
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