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PHF6 gene

Known as: centromere protein 31, PHD finger protein 6, CENP-31 
This gene plays a role in transcriptional regulation.
National Institutes of Health

Related topics

Related topics

2 relations
PHF5A geneTranscriptional Regulation

Papers overview

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2020
2020
Grandparental genotyping enhances exome variant interpretation
Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental… 
2019
2019
Tryptophan-glucosamine conjugates modulate tau-derived PHF6 aggregation at low concentrations.
Glycosylation of amyloidogenic proteins enhances their solubility and reduces propensity for aggregation. We therefore, prepared… 
Review
2019
Review
2019
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated… 
2017
2017
Coexistence of EZH2, NOTCH1, IL7R, and PHF6 Mutations in Adult T-cell Acute Lymphoblastic Leukemia
2016
2016
PHF6 Somatic Mutations and Their Functional Role in the Pathophysiology of Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML)
Recurrent somatic nonsense PHF6 mutations have been reported in patients with T-acute lymphocytic leukemia, AML and chronic… 
Review
2015
Review
2015
Do somatic mutations in de novo MDS predict for response to treatment?
A 68-year-old male with history of hypertension and arthritis presented with bruising and increasing fatigue over several months… 
2015
2015
PHF6 - Somatic Mutations and Their Role in Pathophysiology of MDS and AML
Recently, rare somatic nonsense PHF6 mutations and deletions have been reported in patients with T-ALL, AML and blast crisis CML… 
2014
2014
Alternative Conformations of the Tau Repeat Domain in Complex with an Engineered Binding Protein*
Background: Aggregates of the protein Tau are associated with Alzheimer disease and other neurodegenerative diseases. Results… 
2012
2012
Positional effects of phosphorylation on the stability and morphology of tau-related amyloid fibrils.
Hyperphosphorylated forms of tau protein are the main component of paired helical filaments (PHFs) of neurofibrillary tangles in… 
2011
2011
Corrigendum: A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL)
Corrigendum: A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL) 
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