Results 191 to 200 of about 1,357,403 (269)

Correction to: Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1. [PDF]

Hum Mol Genet
europepmc   +1 more source

Comprehensive evidence for the pathogenicity of the <i>BRCA2</i> c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population. [PDF]

J Med Genet
Yamazawa K, Ueki A, Kuga A, Hinoi T, Niitsu H, Minatogawa M, Kawano J, Minami S, Okawa M, Takei J, Ichikawa M, Enokido K, Akimaru N, Torii M, Tsuyuki S, Iguchi C, Inoue T, Nakajima T, Watanabe N, Tanoshima M, Harada-Shoji N, Taruno K, Arai M, Murakami F, Ogawa M, Tamura K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, Makabe T, Kosaki K, Matsui A.   +33 more
europepmc   +1 more source

Preoperative circulating tumor cells integrated with imaging analysis for prognostic evaluation in head and neck squamous cell carcinoma

Molecular Oncology, EarlyView.
Detecting circulating tumor cells (CTCs) in blood before surgery may help predict outcomes in patients with head and neck squamous cell carcinoma (HNSCC). Here, we show when combined with tumor size and lymph node involvement from routine imaging, CTC status identifies high‐risk patients with poorer survival—offering a simple, minimally invasive tool ...
Susanne Flach, Gizem Abaci, Tom Huberty, Axel Lechner, Lukas Käsmann, Jens Ricke, Sophia Stöcklein, Martin Canis, Philipp Baumeister, Marianna Alunni‐Fabbroni   +9 more
wiley   +1 more source

Genetic Testing by Age at Onset in Parkinson Disease.

JAMA Neurol
Balck A, Vollstedt EJ, Westenberger A, Lange LM, Trinh J, Kasten M, Lohmann K, Brüggemann N, Trenkwalder C, Mollenhauer B, Alcalay R, Galvelis KG, Beck JC, Bauer P, Klein C, König IR, Global Parkinson’s Genetics Program (GP2), the ROPAD Study Group, and the PDGENEration Study.   +18 more
europepmc   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Correction: Functional redundancy and formin-isoform independent localization of tropomyosin paralogs in Saccharomyces cerevisiae. [PDF]

PLoS Genet
PLOS Genetics Staff.
europepmc   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

A Recipe for a Good π. How to Properly Estimate Population Genetics Summary Statistics and Why we Should Systematically Report Them. [PDF]

Genome Biol Evol
Brault M, Brazier T, Mackintosh A, Paupe A, Lascoux M, Glémin S.   +5 more
europepmc   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Correction: Heat shock factor-1 alleviates ER-stress in Caenorhabditis elegans. [PDF]

Sci Rep
Ahmed S, Kovács D, Kovács M, Kosztelnik M, Hotzi B, Sigmond T, Saskői É, Vincze VV, Erdélyi V, Deák V, Stiller I, Vellai T, Barna J.   +12 more
europepmc   +1 more source