Cargando…

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fabišíková, Katarína, Hamidová, Olívia, Behulová, Regína Lohajová, Závodná, Katarína, Priščáková, Petra, Repiská, Vanda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7770176/ https://www.ncbi.nlm.nih.gov/pubmed/33384714 http://dx.doi.org/10.3389/fgene.2020.590486

Ejemplares similares

Candidate gene studies of diabetic retinopathy in human
por: Priščáková, Petra, et al.
Publicado: (2016)

Association of MUTYH and colorectal cancer
por: Tenesa, A, et al.
Publicado: (2006)

Spontaneous Regression of Merkel Cell Carcinoma: Case Report
por: Bystricky, Branislav, et al.
Publicado: (2021)

A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
por: Rehman, Obaid, et al.
Publicado: (2022)

Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
por: Granak, Karol, et al.
Publicado: (2023)

Base excision repair and the role of MUTYH
por: Kairupan, Carla, et al.
Publicado: (2007)

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
por: Theodoratou, E, et al.
Publicado: (2010)

MUTYH: Not just polyposis
por: Curia, Maria Cristina, et al.
Publicado: (2020)

Editorial: The role of extracellular vesicles in diseases: Shedding light on their role in cell-to-cell communication
por: Repiska, Gabriela, et al.
Publicado: (2023)

MUTYH Associated Polyposis (MAP)
por: Poulsen, M.L.M, et al.
Publicado: (2008)

MUTYH Gene Polymorphisms as Risk Factors for Rheumatoid Arthritis
por: Kung, Yung-Jen, et al.
Publicado: (2015)

Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis
por: Chen, Shih-Yin, et al.
Publicado: (2017)

MUTYH gene variants and breast cancer in a Dutch case–control study
por: Out, Astrid A., et al.
Publicado: (2012)

The Presence of Hyperhomocysteinemia Does Not Aggravate the Cardiometabolic Risk Imposed by Hyperuricemia in Young Individuals: A Retrospective Analysis of a Cross-Sectional Study
por: Šebeková, Katarína, et al.
Publicado: (2022)

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
por: Gómez-Fernández, Nuria, et al.
Publicado: (2009)

Commentary: Single-stranded telomere-binding protein employs a dual rheostat for binding affinity and specificity that drives function
por: Tomáška, Ĺubomír, et al.
Publicado: (2019)

MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer
por: Hutchcraft, Megan L., et al.
Publicado: (2021)

Understanding the role of the Q338H MUTYH variant in oxidative damage repair
por: Turco, Eleonora, et al.
Publicado: (2013)

TISSUE EXPRESION OF THE GENES MUTYH AND OGG1 IN PATIENTS WITH SPORADIC COLORECTAL CANCER
por: NASCIMENTO, Enzo Fabrício Ribeiro, et al.
Publicado: (2017)

Genetic variants in MUTYH are not associated with endometrial cancer risk
por: Ashton, Katie A, et al.
Publicado: (2009)

Racial variations in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing
por: Inra, Jennifer A., et al.
Publicado: (2015)

Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma
por: Boesaard, Ewout P, et al.
Publicado: (2014)

The MUTYH base excision repair gene protects against inflammation-associated colorectal carcinogenesis
por: Grasso, Francesca, et al.
Publicado: (2015)

MUTYH the base excision repair gene family member associated with colorectal cancer polyposis
por: Kashfi, Seyed Mohammad Hossein, et al.
Publicado: (2013)

Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes
por: D’Elia, Giovanna, et al.
Publicado: (2023)

An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report
por: Cohen, Stephanie A., et al.
Publicado: (2016)

Simplifying the detection of MUTYH mutations by high resolution melting analysis
por: López-Villar, Isabel, et al.
Publicado: (2010)

Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans
por: Xiao, Fengxia, et al.
Publicado: (2023)

Potential of Salivary Biomarkers in Autism Research: A Systematic Review
por: Janšáková, Katarína, et al.
Publicado: (2021)

Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
por: Rashid, Mamunur, et al.
Publicado: (2015)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers
por: Zavodna, Katarina, et al.
Publicado: (2009)

The Relationship of Steroid Hormones, Genes Related to Testosterone Metabolism and Behavior in Boys With Autism in Slovakia
por: Lakatošová, Silvia, et al.
Publicado: (2022)

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
por: Cozzolino, Carla, et al.
Publicado: (2018)

MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA
por: Markkanen, Enni, et al.
Publicado: (2013)

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
por: Papp, Janos, et al.
Publicado: (2015)

MUTYH mediates the toxicity of combined DNA 6-thioguanine and UVA radiation
por: Grasso, Francesca, et al.
Publicado: (2014)

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis
por: Kantor, Micaella, et al.
Publicado: (2017)

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
por: Dumanski, Jan P, et al.
Publicado: (2017)

Designer Fluorescent Adenines Enable Real-Time Monitoring of MUTYH Activity
por: Zhu, Ru-Yi, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_c8k6bj7gaujtd4ik04vfcc6sr5