Associated Papers
Phf6 truncating mutation drives leukemogenesis via disrupted epigenetic regulation in mice.
Guo Y et al.
Leukemia, 2026
Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.
Lu X et al.
Biomedicines, 2026
Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.
Krizkova J et al.
Leukemia, 2025
Master regulators of neurogenesis: the dynamic roles of Ephrin receptors across diverse cellular niches.
Rasool D et al.
Translational Psychiatry, 2024
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM et al.
Plos Genetics, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.
Liu Y et al.
Heliyon, 2024
PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
Rasool D et al.
Embo Reports, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.
Hameed M et al.
Brain & Neurorehabilitation, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.
Xu F et al.
Journal of Cellular and Molecular Medicine, 2022
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome.
Zapata G et al.
Human Molecular Genetics, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB et al.
Clinical Genetics, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL.
Blombery P et al.
Blood, 2022
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R et al.
Human Molecular Genetics, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
PHF6 Mutations in Hematologic Malignancies.
Kurzer JH et al.
Frontiers in Oncology, 2021
Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases.
Li P et al.
Frontiers in Oncology, 2021
Loss of PHF6 leads to aberrant development of human neuron-like cells.
Fliedner A et al.
Scientific Reports, 2020
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Zhang X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
Cheng C et al.
Cell Reports, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Todd MA et al.
Genes, 2015
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z et al.
The Journal of Biological Chemistry, 2014
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C et al.
Journal of Medical Genetics, 2013
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
Todd MA et al.
Journal of Proteome Research, 2012
Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
Wang Q et al.
Haematologica, 2011