Results 31 to 40 of about 6,242 (173)

Common Genetic Variants of MUTYH are not Associated with Cutaneous Malignant Melanoma: Application of Molecular Screening by Means of High-Resolution Melting Technique in a Pilot Case-Control Study

The International Journal of Biological Markers, 2011
MUTYH glycosylase recognizes the 8-oxoG:A mismatch and is able to excise the adenine base using proofreading mechanisms. Some papers have reported a strong association between cancer development or aggressiveness and MUTYH gene mutations. The aim of this
Concetta Santonocito, Andrea Paradisi, Rodolfo Capizzi, Eleonora Torti, Sara Lanza-Silveri, Romina Penitente, Cecilia Zuppi, Ettore Capoluongo MSc, PhD   +7 more
doaj   +1 more source

MAP (MUTYH-Associated Polyposis ) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
The phenotype is often undistinguishable from that of autosomal dominant familial adenomatous polyposis (FAP) caused by mutations in APC gene. The number of adenomas is often lower in MAP (from 5 to more than 100), and affected patients are often sporadic cases.
B Toschi, M Genuardi
openaire   +1 more source

Synergistic Actions of Ogg1 and Mutyh DNA Glycosylases Modulate Anxiety-like Behavior in Mice

Cell Reports, 2015
Ogg1 and Mutyh DNA glycosylases cooperate to prevent mutations caused by 8-oxoG, a major premutagenic DNA lesion associated with cognitive decline. We have examined behavior and cognitive function in mice deficient of these glycosylases.
Monica D. Bjørge, Gunn A. Hildrestrand, Katja Scheffler, Rajikala Suganthan, Veslemøy Rolseth, Anna Kuśnierczyk, Alexander D. Rowe, Cathrine B. Vågbø, Susanne Vetlesen, Lars Eide, Geir Slupphaug, Yusaku Nakabeppu, Timothy W. Bredy, Arne Klungland, Magnar Bjørås   +14 more
doaj   +1 more source

MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA

Frontiers in Genetics, 2013
Maintenance of genetic stability is crucial for all organisms in order to avoid the onset of deleterious diseases such as cancer. One of the many proveniences of DNA base damage in mammalian cells is oxidative stress, arising from a variety of endogenous
Enni eMarkkanen, Julia eDorn, Ulrich eHübscher   +2 more
doaj   +1 more source

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Nature Communications, 2022
Inherited mutations in MUTYH have been shown to predispose patients to colorectal cancers. Here, the authors show that MUTYH mutations lead to an increased somatic base substitution mutation rate in normal intestinal epithelial cells, which is the likely
Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Olafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A. Sanders, Stefanie V. Lensing, Simon J. A. Buczacki, Rogier ten Hoopen, Nicholas Coleman, Roxanne Brunton-Sim, Simon Rushbrook, Kourosh Saeb-Parsy, Fiona Lalloo, Peter J. Campbell, Iñigo Martincorena, Julian R. Sampson, Michael R. Stratton   +25 more
doaj   +1 more source

MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer

Hereditary Cancer in Clinical Practice, 2006
Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswered concerning MUTYH. We have addressed the
Stormorken Astrid, Heintz Karen-Marie, Andresen Per, Hovig Eivind, Møller Pål   +4 more
doaj   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

HUWE1‐Mediated Degradation of MUTYH Facilitates DNA Damage and Mitochondrial Dysfunction to Promote Acute Kidney Injury

Advanced Science
The role of MUTYH, a DNA repair glycosylase in the pathogenesis of acute kidney injury (AKI) is unclear. In this study, it is found that MUTYH protein levels are significantly decreased in the kidneys of cisplatin‐ or folic acid (FA)‐induced mouse AKI ...
Yunwen Yang, Peipei Wang, Kaiqian Zhou, Wen Zhang, Suwen Liu, Jing Ouyang, Mi Bai, Guixia Ding, Songming Huang, Zhanjun Jia, Aihua Zhang   +10 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Impact of polymorphisms in base excision repair genes on seminal fluid parameters [PDF]

Exploration of Medicine
Aim: Abnormalities in sperm parameters can result from genetic variations in DNA repair genes. The base excision repair (BER) pathway is responsible for maintaining DNA integrity.
Mahmoud A. Hassouna, Mohammed J. Ashour, Hadeer N. Abuwarda, Mazen M. Alzaharna, Fadel A. Sharif   +4 more
doaj   +1 more source