Sort   by:  
 Page size 
ProteomicsComparative proteomics identifies different metabolic pathways activated by p53 mutants G245S and R337H associated with Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition disorder associated with germline mutations in the TP53 tumor suppressor gene. The p53 mutation spectrum associated with LFS is similar to that found in somatic tumors, with most of them, such as the G245S mutation, occurring in the DN...
ORGANISM(S): Homo sapiens (Human) 
2026-06-29 | PXD025056 | Pride
Metabolism Oxidative phosphorylation Li-fraumeni syndrome R337h Respiration Cancer cells G245s Tp53 Glycolysis Mutation 
UnknownFrequency of the TP53 R337H variant in sporadic breast cancer and its impact on genomic instability.
Not available
S-EPMC7539008 | biostudies-literature
GenomicsThe common germline TP53-R337H mutation is hypomorphic and confers incomplete tumor penetrance and late tumor onset in a mouse model
The common germline TP53-R337H mutation is hypomorphic and confers incomplete tumor penetrance and late tumor onset in a mouse model
PRJNA702070 | ENA
UnknownAssociation of the germline TP53 R337H mutation with breast cancer in southern Brazil.
Not available
S-EPMC2631588 | biostudies-literature
TranscriptomicsThe common germline TP53-R337H mutation is hypomorphic and confers incomplete tumor penetrance and late tumor onset in a mouse model
The TP53-R337H founder mutation exists at high frequency throughout southern Brazil and represents the most common germline TP53 mutation reported to date. It was originally identified in pediatric adrenocortical tumors in families with no reported history of cancer. The R337H mutation has since bee...
ORGANISM(S): Mus musculus 
2021-03-01 | GSE166819 | GEO
UnknownMouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis.
Not available
S-EPMC6139041 | biostudies-literature
UnknownContribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.
Not available
S-EPMC5738920 | biostudies-literature
UnknownThe Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.
Not available
S-EPMC8137600 | biostudies-literature
UnknownPersonalized screening strategies for <i>TP53</i> R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Not available
S-EPMC11787607 | biostudies-literature
UnknownStability and structural recovery of the tetramerization domain of p53-R337H mutant induced by a designed templating ligand.
Not available
S-EPMC2575436 | biostudies-literature
Sort   by:  
 Page size