Results 61 to 70 of about 1,061,050 (301)

Consensus Approach for Detection of Cancer Somatic Mutations

open access: yes, 2017
We present a consensus algorithm for detection of somatic mutations in cancer genomics data, based on integrating results of four published somatic mutation callers, MuTect2, MuSE, Varscan2 and Somatic Sniper.
Kinga Leszczorz   +7 more
core   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

open access: yesFEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta   +3 more
wiley   +1 more source

Basic descriptive statistics for somatic mutations.

open access: yes, 2022
(A) The number of somatic mutations per individual in the early-stage, late-stage, and tumor mutation groups. (B) Correlation of age with somatic mutation counts in the groups. (C) Average VAFs between the three mutation groups.
Dong-Seok Kim (128408)   +12 more
core   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

open access: yesFEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang   +2 more
wiley   +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

Somatic driver mutations in melanoma [PDF]

open access: yesCancer, 2017
Melanoma has one of the highest somatic mutational burdens among solid malignancies. Although the rapid progress in genomic research has contributed immensely to our understanding of the pathogenesis of melanoma, the clinical significance of the vast array of genomic alterations discovered by next‐generation sequencing is far from being fully ...
Bobby Y, Reddy   +2 more
openaire   +2 more sources

Liver organoids: modelling complexity in homeostasis and disease

open access: yesFEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

open access: yesFrontiers in Immunology, 2021
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder clinically defined by chronic and benign lymphoproliferation, autoimmunity and an increased risk of lymphoma due to a genetic defect in the FAS-FASL apoptotic pathway.
Marta López-Nevado   +19 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

open access: yesFEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee   +2 more
wiley   +1 more source

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

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