Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A
Variant:p.Y36C
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PHF5A

NM_032758.4:p.Y36C

Associated Papers

Covalent targeting of splicing in T cells.

Scott KA et al.

Cell Chemical Biology, 2025

Targeting splicing for hematological malignancies therapy.

Szelest M et al.

Bmc Genomics, 2024

Targeted high-throughput mutagenesis of the human spliceosome reveals its in vivo operating principles.

Beusch I et al.

Molecular Cell, 2023

PHF5A as a new OncoTarget and therapeutic prospects.

Li X et al.

Heliyon, 2023

Dysregulation and therapeutic targeting of RNA splicing in cancer.

Stanley RF et al.

Nature Cancer, 2022

Splicing factor mutations in hematologic malignancies.

Chen S et al.

Blood, 2021

Biology of the mRNA Splicing Machinery and Its Dysregulation in Cancer Providing Therapeutic Opportunities.

Blijlevens M et al.

International Journal of Molecular Sciences, 2021

Overlapping roles of spliceosomal components SF3B1 and PHF5A in rice splicing regulation.

Butt H et al.

Communications Biology, 2021

Therapeutic approaches targeting splicing factor mutations in myelodysplastic syndromes and acute myeloid leukemia.

Figg JW et al.

Current Opinion in Hematology, 2021

Roles and mechanisms of alternative splicing in cancer - implications for care.

Bonnal SC et al.

Nature Reviews. Clinical Oncology, 2020

Exploiting Cryo-EM Structural Information and All-Atom Simulations To Decrypt the Molecular Mechanism of Splicing Modulators.

Borišek J et al.

Journal of Chemical Information and Modeling, 2020

In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1K700E Mutant.

Samy A et al.

Biomolecules, 2020

Therapeutic approaches to treat human spliceosomal diseases.

DeNicola AB et al.

Current Opinion in Biotechnology, 2019

Mutations in spliceosome genes and therapeutic opportunities in myeloid malignancies.

Taylor J et al.

Genes, Chromosomes & Cancer, 2019

H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers.

Seiler M et al.

Nature Medicine, 2018

Structural Basis of Splicing Modulation by Antitumor Macrolide Compounds.

Cretu C et al.

Molecular Cell, 2018

The cryo-EM structure of the SF3b spliceosome complex bound to a splicing modulator reveals a pre-mRNA substrate competitive mechanism of action.

Finci LI et al.

Genes & Development, 2018

Insights from structures of cancer-relevant pre-mRNA splicing factors.

Kielkopf CL

Current Opinion in Genetics & Development, 2018

Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex.

Teng T et al.

Nature Communications, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."