Results 71 to 80 of about 4,949 (187)

Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1

open access: yesStem Cell Research, 2023
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder predominantly caused by biallelic AAGGG expansions in the second intron of the RFC1 gene. Here, we used a simultaneous reprogramming and
Kayli C. Davies   +2 more
doaj   +1 more source

A conserved Polϵ binding module in Ctf18-RFC is required for S-phase checkpoint activation downstream of Mec1 [PDF]

open access: yes, 2015
Defects during chromosome replication in eukaryotes activate a signaling pathway called the S-phase checkpoint, which produces a multifaceted response that preserves genome integrity at stalled DNA replication forks.
Bentley   +9 more
core   +4 more sources

Cellular Stress, Inflammation and Barrier Damage in Gut Epithelial Cells Caused by Aspartame

open access: yesAllergy, Volume 81, Issue 3, Page 884-901, March 2026.
This study shows that aspartame, at dietary‐relevant doses, induces cytotoxicity, cellular distress associated with endoplasmic reticulum stress, oxidative stress, DNA replication and repair mechanism disturbance culminating in epithelial barrier damage.
Yagiz Pat   +16 more
wiley   +1 more source

Characterization of the five replication factor C genes of Saccharomyces cerevisiae [PDF]

open access: yes, 1995
Replication factor C (RFC) is a five-subunit DNA polymerase accessory protein that functions as a structure-specific, DNA-dependent ATPase. The ATPase function of RFC is activated by proliferating cell nuclear antigen.
Cullmann, G.   +3 more
core  

Identification of Elg1 interaction partners and effects on post-replication chromatin re-formation [PDF]

open access: yes, 2018
We thank members of the Donaldson, Kubota, and Lorenz labs for helpful discussion, Sophie Shaw at the University of Aberdeen for data upload to Array Express and Shin-ichiro Hiraga for help with Bioinformatic analysis.
Dickerson, David   +7 more
core   +4 more sources

CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion [PDF]

open access: yesBrain, 2020
This scientific commentary refers to ‘Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion’, by Cortese et al. (doi: 10.1093/brain/awz418).
Coro, Paisán-Ruiz, Joanna C, Jen
openaire   +2 more sources

Influence of chemotherapeutic drug-related gene polymorphisms on toxicity and survival of early breast cancer patients receiving adjuvant chemotherapy

open access: yesBMC Cancer, 2017
Background We investigated whether GSTT1 (“null” allele), GSTM1 (“null”allele), GSTP1 (A313G), RFC1 (G80A), MTHFR (C677T), TS (2R/3R) polymorphisms were associated with toxicity and survival in patients with early breast cancer (EBC) treated with ...
Vienna Ludovini   +15 more
doaj   +1 more source

Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data. [PDF]

open access: yes, 2014
Breast cancer is one of the most commonly diagnosed cancers in women. While there are several effective therapies for breast cancer and important single gene prognostic/predictive markers, more than 40,000 women die from this disease every year.
Bainbridge, Matthew N   +3 more
core   +1 more source

PIK‐III‐Mediated Elevation of Thiamine Re‐Sensitises Renal Cell Carcinoma to Cuproptosis via Activating PDHA1

open access: yesCell Proliferation, Volume 59, Issue 3, March 2026.
PIK‐III enhancing the efficacy of cuproptosis to kill renal cancer cells through dysregulating thiamine metabolism and dephosphorylation of pyruvate dehydrogenase complex E1 (PDHA1), providing a potential option for treatment of cuproptosis‐resistant renal cancer by the combination of PIK‐III and elesclomol.
Dongdong Xie   +8 more
wiley   +1 more source

Proteogenomic Characterization Reveals Subtype‐Specific Therapeutic Potential for HER2‐Low Breast Cancer

open access: yesAdvanced Science, Volume 13, Issue 12, 27 February 2026.
Multiomic profiling of HER2‐low breast cancer identifies three proteomic subtypes with distinct therapeutic strategies: endocrine, antiangiogenic, and anti‐HER2 therapies. Genomic and lactate modification landscapes are detailed, providing insights for precise management.
Shouping Xu   +20 more
wiley   +1 more source

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