Results 61 to 70 of about 199,006 (315)

Somatic mutations during rapid clonal domestication of Populus alba var. pyramidalis

open access: yesEvolutionary Applications, 2022
For many clonally propagated species, the accumulation of somatic mutations is the principal driver of declines in yield and quality. However, somatic mutations may also promote genetic diversification.
Zeyu Zheng   +11 more
doaj   +1 more source

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism

open access: yesBiomedicines, 2021
Somatic mutations have been identified in adrenal tissues of unilateral primary aldosteronism (uPA). The spectrum of somatic mutations in uPAs was investigated using a customized and targeted next-generation sequencing (cNGS) approach.
Che-Hsiung Wu   +5 more
doaj   +1 more source

Unlocking the potential of tumor‐derived DNA in urine for cancer detection: methodological challenges and opportunities

open access: yesMolecular Oncology, EarlyView.
Urine is a rich source of biomarkers for cancer detection. Tumor‐derived material is released into the bloodstream and transported to the urine. Urine can easily be collected from individuals, allowing non‐invasive cancer detection. This review discusses the rationale behind urine‐based cancer detection and its potential for cancer diagnostics ...
Birgit M. M. Wever   +1 more
wiley   +1 more source

Primary extranodal diffuse large B‐cell lymphoma: Molecular features, treatment, and prognosis

open access: yesAging and Cancer, Volume 3, Issue 3-4, Page 133-146, September-December 2022., 2022
One‐third of DLBCL arises from extranodal organs and is challenging to manage. Molecular features are critical to elucidate the differences in clinical features, predict the disease prognosis, and improve effective targeted therapeutic strategies. Abstract Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of non‐Hodgkin's lymphoma and ...
Si‐Yuan Chen   +3 more
wiley   +1 more source

Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience

open access: yesCurrent Issues in Molecular Biology, 2022
This study aims at identifying common pathogenic somatic mutations at different stages of colorectal carcinogenesis in Egyptian patients. Our cohort included colonoscopic biopsies collected from 120 patients: 20 biopsies from patients with inflammatory ...
Amira Salah El-Din Youssef   +10 more
doaj   +1 more source

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

open access: yesMolecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker   +14 more
wiley   +1 more source

The somatic mutation landscape of the human body [PDF]

open access: yesGenome Biology, 2019
ABSTRACTSomatic mutations in healthy tissues contribute to aging, neurodegeneration, and cancer initiation, yet remain largely uncharacterized. To gain a better understanding of their distribution and functional impacts, we leveraged the genomic information contained in the transcriptome to uniformly call somatic mutations from over 7,500 tissue ...
Pablo E. García-Nieto   +2 more
openaire   +5 more sources

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

open access: yesMolecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha   +6 more
wiley   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han   +5 more
wiley   +1 more source

Somatic Mutations in Cerebral Cortical Malformations [PDF]

open access: yesNew England Journal of Medicine, 2014
Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated.Using a customized panel of known and candidate genes associated with brain malformations, we ...
Jamuar SS   +31 more
openaire   +6 more sources

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