Results 41 to 50 of about 305,165 (262)

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Comprehensive DNA profiling strategy for patient-derived xenograft model authentication in the J-PDX library

Scientific Reports
Patient-derived xenograft models are crucial in cancer research, although authentication methods remain limited. This study developed a comprehensive DNA profiling strategy for patient-derived xenograft quality control in the J-PDX Library by comparing ...
Tomomi Yoshino, Shigehiro Yagishita, Mami Takahashi, Chiaki Ushie, Ako Takahashi, Yasushi Yatabe, Shinji Kohsaka, Toshihide Ueno, Hanako Ono, Kouya Shiraishi, Akinobu Hamada   +10 more
doaj   +1 more source

Functional single nucleotide polymorphism-based association studies

Human Genomics, 2006
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH, Ireland James S, Useche Francisco, Faham Malek   +3 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset : HapMap tag-single-nucleotide polymorphism analysis

, 2012
Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia.
Swagell, Christopher D., Bruce R. Lawford, Ian P. Hughes, Hughes, Ian P., Christopher D. Swagell, Charles Phillip Morris, Voisey, Joanne, Lawford, Bruce R., Young, Ross McD., Morris, Charles Phillip, Joanne Voisey, Ross McD. Young   +11 more
core   +1 more source

Single nucleotide polymorphism for detection of AF.

, 2023
Single nucleotide polymorphism for detection of AF.
Toshihiro Tanaka (132419), Kensuke Ihara (17138001), Tetsushi Furukawa (253981), Tetsuo Sasano (2825027)   +3 more
core   +1 more source

Clinical Impact of Single Nucleotide Polymorphism in CD-19 on Treatment Outcome in FMC63-CAR-T Cell Therapy. [PDF]

, 2023
Chimeric antigen receptor (CAR)-T cell therapy is effective in patients with relapsed or refractory diffuse large B-cell lymphoma (r/r DLBCL) with response rates of 63-84% and complete response observed in 43-54%.
Mariesol Abbühl, Daskalakis, Michael, Pabst, Thomas, Bacher, Vera, Nilius, Henning, Katja Seipel, Henning Nilius, Thomas Pabst, Seipel, Katja, Abbühl, Mariesol, Ulrike Bacher, Michael Daskalakis   +11 more
core   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Simulasi Metode Statistik untuk Seleksi Single Nucleotide Polymorphism

Biotropika: Journal of Tropical Biology, 2019
Kemajuan teknologi sekuensing menyebabkan peningkatan ketersediaan sekuen genom organisme. Ribuan strain dan isolat dari berbagai populasi organisme telah diisolasi serta diketahui sekuen genomnya.
Mohamad Ikhsan Nurulloh, Hidayat Trimarsanto, Yustinus Ulung Anggraito, Endah Peniati, R Susanti   +4 more
doaj   +1 more source