Results 71 to 80 of about 6,242 (173)

Simplifying the detection of MUTYH mutations by high resolution melting analysis

BMC Cancer, 2010
Background MUTYH-associated polyposis (MAP) is a disorder caused by bi-allelic germline MUTYH mutation, characterized by multiple colorectal adenomas. In order to identify mutations in MUTYH gene we applied High Resolution Melting (HRM) genotyping.
López-Villar Isabel, Ayala Rosa, Wesselink Jan, Morillas Juan, López Elena, Marín José, Díaz-Tasende José, González Sara, Robles Luis, Martínez-López Joaquín   +9 more
doaj   +1 more source

MUTYH-associated polyposis (MAP), the syndrome implicating Base Excision Repair in inherited predisposition to colorectal tumors

Frontiers in Oncology, 2012
In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations of MUTYH, a gene encoding a base excision repair (BER) protein that counteracts the DNA damage induced by the ...
Tiziana eVenesio, Antonella eBalsamo, Vito eD'Agostino, Guglielmina Nadia Ranzani   +3 more
doaj   +1 more source

MUTYH is differentially expressed in glioblastoma.

, 2020
Glioblastoma is the most common brain cancer in adults (1, 2). The poor prognostic outlook for patients diagnosed with glioblastoma demands an enhanced understanding of the basic transcriptional nature of glioblastoma tumors (1, 2). In this study we compared global gene expression profiles of glioblastoma tumors to that of the brain in health using ...
openaire   +2 more sources

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

DNA Damage Recognition by Bacterial and Human Adenine-DNA Glycosylases: Insights from Non-Canonical Substrates

Biomolecules
The Escherichia coli adenine-DNA glycosylase (MutY) and its human homologue, MUTYH, protect cells against oxygen-free radical-induced mutagenesis by excising regular adenine impaired with 8-oxo-7,8-dihydro-guanine (8oxoG) in the base excision repair (BER)
Ulan Sarsenbayeva, Didier Gasparutto, Nicolas Geacintov, Alexander A. Ishchenko, Gulzhan Zhamanbayeva, Kamalidin O. Sharipov, Carlos H. Trasviña-Arenas, Sheila S. David, Dmitry O. Zharkov, Bakhyt T. Matkarimov, Murat Saparbaev, Sabira Taipakova   +11 more
doaj   +1 more source

First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report

Frontiers in Oncology
IntroductionThe MUTYH gene encodes a protein involved in DNA repair and is known for MUTYH-associated polyposis (MAP), a rare autosomal recessive condition that predisposes individuals to colorectal cancer (CRC), colorectal polyps and familial colorectal
Mabel Bohórquez-Lozano, John Suarez-Olaya, John Suarez-Olaya, Andrea Catalina Rubio-Vargas, Fabian Castro-Valencia, Danna Diaz-Carmona, Juan Felipe Moncada-Jiménez, Jorge M. Castro, Gilbert Mateus, Angel Criollo-Rayo, Diego Buitrago, María Magdalena Echeverry de Polanco, Luis Carvajal-Carmona, Luis Carvajal-Carmona   +13 more
doaj   +1 more source

Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations

The International Journal of Biological Markers, 2019
Background: The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.
Luiza Ferreira Araujo, Greice Andreotti Molfetta, Otavio Costa Vincenzi, Jair Huber, Lorena Alves Teixeira, Victor Evangelista Ferraz, Wilson Araujo Silva   +6 more
doaj   +1 more source

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

Translational Oncology
Background: Colorectal cancers (CRCs) from people with biallelic germline likely pathogenic/pathogenic variants in MUTYH or NTHL1 exhibit specific single base substitution (SBS) mutational signatures, namely combined SBS18 and SBS36 (SBS18+SBS36), and ...
Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan G. Preston, Sharelle Joseland, Bernard J. Pope, Ana B.D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung K. Win, John L. Hopper, Mark A. Jenkins, Giovana T. Torrezan, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, Peter Georgeson   +29 more
doaj   +1 more source

MUTYH-Associated Polyposis [PDF]

, 2020
openaire   +2 more sources

Genomic 8-oxoguanine modulates gene transcription independent of its repair by DNA glycosylases OGG1 and MUTYH

Redox Biology
8-oxo-7,8-dihydroguanine (OG) is one of the most abundant oxidative lesions in the genome and is associated with genome instability. Its mutagenic potential is counteracted by a concerted action of 8-oxoguanine DNA glycosylase (OGG1) and mutY homolog DNA
Tobias Obermann, Teri Sakshaug, Vishnu Vignesh Kanagaraj, Andreas Abentung, Mirta Mittelstedt Leal de Sousa, Lars Hagen, Antonio Sarno, Magnar Bjørås, Katja Scheffler   +8 more
doaj   +1 more source