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ProteomicsHuman POT1 Prevents Severe Telomere Damage Instability Induced by Homology Directed DNA Repair
The evolutionarily conserved POT1 protein binds the single stranded G-rich telomeric DNA and has been implicated in telomeric DNA maintenance and the suppression of DNA damage checkpoint signaling. Here, we explore human POT1 function through genetics and proteomics discovering that the complete abs...
ORGANISM(S): Homo sapiens (Human) 
2020-10-21 | PXD016826 | Pride
Telomeres Affinity purification Mass spectrometry Homology-directed dna repair Tandem mass tags 
GenomicsPOT1 splice site mutant analysis
We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see ...
EGAS00001000571 | EGA
GenomicsAcquisition of somatic activating mutations in the vegf-pathway in cardiac angiosarcomas
Study of genetic landscape (germinal and somatic) of cardiac angiosracomas with or without mutations in POT1 gene.
ORGANISM(S): Homo sapiens 
2019-06-03 | E-MTAB-7999 | biostudies-arrayexpress
TranscriptomicsPOT1 mutations identify inferior outcomes in chronic lymphocytic leukemia and disrupted telomere biology function
Telomere protection 1 (POT1) is an important subunit in the shelterin complex, considered the telomere protector. POT1 dysfunction may lead to telomere length dysregulation and genomic instability. Both germline and somatic POT1 mutations have been identified in CLL patients, suggesting the developm...
ORGANISM(S): Homo sapiens 
2025-03-14 | GSE261569 | GEO
GenomicsPOT1 mutations identify inferior outcomes in chronic lymphocytic leukemia and disrupted telomere biology function
POT1 mutations identify inferior outcomes in chronic lymphocytic leukemia and disrupted telomere biology function
PRJNA1087609 | ENA
TranscriptomicsA MUTATION IN THE POT1 GENE IS RESPONSIBLE FOR CARDIAC ANGIOSARCOMA IN TP53-NEGATIVE LI-FRAUMENI-LIKE FAMILIES
Whole Exome sequencing of two patients with Cardiac angiosarcoma in Li-Fraumeni-like families discovers that a mutation in the pot1 gene is responsible for cardiac angiosarcoma in tp53-negative li-fraumeni-like families
ORGANISM(S): Homo sapiens 
2015-09-14 | E-MTAB-3858 | biostudies-arrayexpress
UnknownGermline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Not available
S-EPMC10815363 | biostudies-literature
UnknownStructural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer.
Not available
S-EPMC5394241 | biostudies-literature
UnknownPOT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.
Not available
S-EPMC478187 | biostudies-literature
UnknownRole of POT1 in Human Cancer.
Not available
S-EPMC7598640 | biostudies-literature
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