Results 91 to 100 of about 200,238 (297)

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Using whole genome sequencing and somatic mutation signatures to unravel insight into familial breast cancer aetiology

, 2019
Approximately 10-15% of breast cancers are associated with a strong family history of disease. Pathogenic variants in BRCA1, BRCA2 or other moderate to highly penetrant susceptibility genes (e.g.
Khanna, KK, Thorne, H, Patch, A-M, Simpson, P, Reid, L, Kazakoff, S, Srihari, S, Nones, K, Johnson, J, Parsons, M, De Luca, X, Reed, A McCart, Ferguson, K, Newell, F, et al.   +14 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Somatic evolutionary timings of driver mutations

BMC Cancer, 2018
Background A unified analysis of DNA sequences from hundreds of tumors concluded that the driver mutations primarily occur in the earliest stages of cancer formation, with relatively few driver mutation events detected in the late-arising subclones ...
Karen Gomez, Sayaka Miura, Louise A. Huuki, Brianna S. Spell, Jeffrey P. Townsend, Sudhir Kumar   +5 more
doaj   +1 more source

Somatic Mutation [PDF]

BMJ, 1965
P. Armitage, R. Doll, M. C. Pike
openaire   +2 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

E2F1 somatic mutation within miRNA target site impairs gene regulation in colorectal cancer.

PLoS ONE, 2017
BackgroundGenetic studies have largely concentrated on the impact of somatic mutations found in coding regions, and have neglected mutations outside of these.
Camila M Lopes-Ramos, Bruna P Barros, Fernanda C Koyama, Paola A Carpinetti, Julia Pezuk, Nayara T S Doimo, Angelita Habr-Gama, Rodrigo O Perez, Raphael B Parmigiani   +8 more
doaj   +1 more source

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ, Gale, RE, David C. Linch, Rosemary E. Gale, Ri Liesner, Phil J. Ancliff, Ian M. Hann, Strobel, S, Liesner, R, Hann, IM, Watts, MJ, Michael J. Watts, Stephan Strobel, Linch, DC   +13 more
core   +1 more source