The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer

Study protocol to investigate biomolecular muscle profile as predictors of long-term urinary incontinence in women with gestational diabetes mellitus.

BMC pregnancy and childbirth·2020

USP7 is essential for maintaining Rad18 stability and DNA damage tolerance.

Oncogene·2015

The conserved Fanconi anemia nuclease Fan1 and the SUMO E3 ligase Pli1 act in two novel Pso2-independent pathways of DNA interstrand crosslink repair in yeast.

DNA repair·2013

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

The British journal of dermatology·2013

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Human mutation·2009

Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.

The British journal of radiology·2007

No bird soars in a calm: therapeutic germline gene editing.

Trends in genetics : TIG·2026

How mutagenic are transposable elements?

Trends in genetics : TIG·2026

Richer together: genetics and spirituality in public conversation.

Trends in genetics : TIG·2026

Preparing primary care professionals for genomics-informed healthcare.

Trends in genetics : TIG·2026

One million exomes identify FNIP1 as a metabolic brake.

Trends in genetics : TIG·2026

DNA methylation: unifying framework for complex chronic conditions.

Trends in genetics : TIG·2026

Impact of Ganglionated Plexus Ablation on Early Recurrence After Thoracoscopic Atrial Fibrillation Ablation: A Post Hoc Analysis of the AFACT Study.

Journal of cardiovascular electrophysiology·2026

Tissue-based PEG10 expression as an exploratory biomarker associated with first-line R-CHOP treatment outcome in diffuse large B-cell lymphoma.

Future oncology (London, England)·2026

Hidden in Plain Sight: The Diagnostic Odyssey of Glomus Tumors.

Cureus·2026

HepaKineticNet: Deep Learning of CT-Derived Intratumoral Heterogeneity for Overall Survival Prediction in BCLC Stage B-C Hepatocellular Carcinoma Treated with Locoregional Therapy Plus First-Line TKI and Anti-PD-1 Therapy.

Journal of hepatocellular carcinoma·2026

Systematic Literature Review of the Efficacy and Safety of Treatments in Congenital Thrombotic Thrombocytopenic Purpura.

Journal of blood medicine·2026

CD5-Positive Mature B-Cell Neoplasm With Large-Cell Morphology, Predominant Bone Marrow Involvement, and a Leukemic Peripheral Blood Presentation: A Case Report.

Case reports in hematology·2026

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The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer

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Study protocol to investigate biomolecular muscle profile as predictors of long-term urinary incontinence in women with gestational diabetes mellitus.

USP7 is essential for maintaining Rad18 stability and DNA damage tolerance.

The conserved Fanconi anemia nuclease Fan1 and the SUMO E3 ligase Pli1 act in two novel Pso2-independent pathways of DNA interstrand crosslink repair in yeast.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

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The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer

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