A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
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Molecular Architecture of Full-length TRF1 Favors Its Interaction with DNAAnalysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancerSystematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic AllelesTelomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.Critical role of the POT1 OB domain in maintaining genomic stability.A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.The shelterin complex and hematopoiesis.Fanconi anemia proteins in telomere maintenance.Stop pulling my strings - what telomeres taught us about the DNA damage response.Telomere-driven diseases and telomere-targeting therapies.Genetic profiling of CLL: a 'TP53 addict' perspective.TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.Retrotransposon-derived p53 binding sites enhance telomere maintenance and genome protection.Modulation of telomere protection by the PI3K/AKT pathway.The wide spectrum of POT1 gene variants correlates with multiple cancer types.Telomeres: Implications for Cancer Development.Combined mTOR and MEK inhibition is an effective therapy in a novel mouse model for angiosarcoma.Beginning at the ends: telomeres and human disease.Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredityRegression of primary cardiac angiosarcoma and metastatic nodules following propranolol as a single agent treatment
P2860
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P2860
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@ast
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@en
type
label
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@ast
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@en
prefLabel
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@ast
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@en
P2093
P2860
P50
P356
P1476
A mutation in the POT1 gene is ...... ive Li-Fraumeni-like families.
@en
P2093
Carlos Benitez-Buelga
Clara Salas
Fernando Setien
Gaelle Bougeard
Jaime Carrillo
Juan Carlos Triviño
Luis Alonso-Pulpon
Miguel Urioste
Oriol Calvete
Pablo Garcia-Pavia
P2860
P2888
P356
10.1038/NCOMMS9383
P407
P50
P577
2015-09-25T00:00:00Z