A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01560-5
Abstract: Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations… read more here.
Keywords: phf6; forssman lehman; phf6 gene; rjeson forssman ... See more keywords
Comparison of the force fields on monomeric and fibrillar PHF6 of tau protein.
Sign Up to like & getrecommendations! Published in 2021 at "Biophysical chemistry"
DOI: 10.1016/j.bpc.2021.106631
Abstract: The hexapeptide 306VQIVYK311 (PHF6) plays an important role in the aggregation of Tau protein, which is a hallmark of the Alzheimer's disease (AD). In this article, we systematically compare the effects of eight popular all-atom… read more here.
Keywords: phf6; fields monomeric; force fields; fibrillar phf6 ... See more keywords
A Mechanism for the Inhibition of Tau Neurotoxicity: Studies with Artificial Membranes, Isolated Mitochondria, and Intact Cells.
Sign Up to like & getrecommendations! Published in 2021 at "ACS chemical neuroscience"
DOI: 10.1021/acschemneuro.1c00045
Abstract: It is currently believed that molecular agents that specifically bind to and neutralize the toxic proteins/peptides, amyloid β (Aβ42), tau, and the tau-derived peptide PHF6, hold the key to attenuating the progression of Alzheimer's disease… read more here.
Keywords: phf6; tau; phf6 induced; inhibition ... See more keywords
A novel TLX1-driven T-ALL zebrafish model: comparative genomic analysis with other leukemia models
Sign Up to like & getrecommendations! Published in 2020 at "Leukemia"
DOI: 10.1038/s41375-020-0938-2
Abstract: Zebrafish (Danio rerio) has become a well-established and powerful in vivo model to study the molecular basis of Tcell acute lymphoblastic leukemia (T-ALL) [1]. Langenau et al. [2] were the first to generate a cancer… read more here.
Keywords: phf6; zebrafish model; model; leukemia ... See more keywords
Plant homeodomain finger protein 6 in the regulation of normal and malignant hematopoiesis.
Sign Up to like & getrecommendations! Published in 2020 at "Current Opinion in Hematology"
DOI: 10.1097/moh.0000000000000588
Abstract: PURPOSE OF REVIEW Even though an increasing amount of sequencing data on the leukemia genome has highlighted a tumor-suppressive function for plant homeodomain finger protein 6 (PHF6), its role in the hematopoietic system remained elusive… read more here.
Keywords: phf6; homeodomain finger; plant homeodomain; finger protein ... See more keywords
Functional mapping of PHF6 complexes in chromatin remodeling, replication dynamics and DNA repair.
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2021014103
Abstract: The Plant Homeodomain 6 gene (PHF6) encodes a nucleolar and chromatin-associated leukemia tumor suppressor with proposed roles in transcription regulation. However, specific molecular mechanisms controlled by PHF6 remain rudimentarily understood. Here we show that PHF6… read more here.
Keywords: dna repair; dynamics dna; chromatin remodeling; phf6 ... See more keywords
Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials.
Sign Up to like & getrecommendations! Published in 2019 at "Blood advances"
DOI: 10.1182/bloodadvances.2019000391
Abstract: Plant homeodomain finger gene 6 (PHF6) encodes a 365-amino-acid protein containing 2 plant homology domain fingers. Germline mutations of human PHF6 cause Börjeson-Forssman-Lehmann syndrome, a congenital neurodevelopmental disorder. Loss-of-function mutations of PHF6 are detected in… read more here.
Keywords: phf6; phf6 knockout; renewal capacity; self renewal ... See more keywords
PHF6 Mutations in Hematologic Malignancies
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2021.704471
Abstract: Next generation sequencing has uncovered several genes with associated mutations in hematologic malignancies that can serve as potential biomarkers of disease. Keeping abreast of these genes is therefore of paramount importance in the field of… read more here.
Keywords: malignancies phf6; phf6; mutations hematologic; hematology ... See more keywords