Results 31 to 40 of about 3,751,417 (261)
Frontiers in Oncology, 2022 Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized.
Moisés Ó. Fiesco-Roa +9 more
doaj +1 more source
Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients
Acta Médica Portuguesa, 2016 Introduction: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability.
Jorge Hernâni-Eusébio +1 more
doaj +1 more source
, 2021 Supplementary data from PBRM1 Deficiency Confers Synthetic Lethality to DNA Repair Inhibitors in ...
Theodoros I. Roumeliotis (1725436) +27 more
core +4 more sources
HIGD1A links SIRT1 activity to adipose browning by inhibiting the ROS/DNA damage pathway
Cell Reports, 2023 Summary: Energy-dissipating adipocytes have the potential to improve metabolic health. Here, we identify hypoxia-induced gene domain protein-1a (HIGD1A), a mitochondrial inner membrane protein, as a positive regulator of adipose browning.
Bai-Yu Li +4 more
doaj +1 more source
Endonuclease V-Mediated Deoxyinosine Excision Repair in Vitro
, 2011 Deoxyinosine (dI) in DNA can arise from hydrolytic or nitrosative deamination of deoxyadenosine It is excised in a -repair pathway that is initiated by endonuclease V.
楊雅倩;林淑萍;高照村;蔡克嵩;方偉宏 +1 more
core +1 more source
Transcription influences repair-induced DNA methylation [PDF]
, 2008 This work is aimed at the dissection of the molecular mechanism(s) linking DNA damage and gene silencing. To this end, we have developed a genetic system that allows a rapid assessment of homologous-directed repair (HR) of an unique DNA double strand ...
Morano, Annalisa
core +1 more source
DNA repair deficiency in neurodegeneration
, 2011 Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic neurons are particularly prone to accumulation of unrepaired DNA lesions ...
Dennis Kjølhede Jeppesen +5 more
core +1 more source
Proofreading deficiency of Pol I increases the levels of spontaneous rpoB mutations in E. coli [PDF]
, 2011 The fidelity role of DNA polymerase I in chromosomal DNA replication in E. coli was investigated using the rpoB forward target. These experiments indicated that in a strain carrying a proofreading-exonuclease-defective form of Pol I (polAexo mutant) the ...
Jonczyk, Piotr +7 more
core +2 more sources
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
Liver organoids: modelling complexity in homeostasis and disease
FEBS 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