Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). Defective MUTYH activity causes G:C to T:A transversions in tumour...

Bibliográfalaš dieđut
Váldodahkkit:	Parker, A, Sieber, O, Shi, C, Hua, L, Takao, M, Tomlinson, I, Eshleman, JR
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2005

Geahča maid

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
Dahkki: Peter Georgeson, et al.
Almmustuhtton: (2022-06-01)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
Dahkki: Thirlwell, C, et al.
Almmustuhtton: (2007)

Regulation of oxidative DNA damage repair by DNA polymerase λ and MutYH by cross-talk of phosphorylation and ubiquitination.
Dahkki: Markkanen, E, et al.
Almmustuhtton: (2012)

Base excision repair and the role of <it>MUTYH</it>
Dahkki: Kairupan Carla, et al.
Almmustuhtton: (2007-12-01)

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer
Dahkki: Alessandra Viel, et al.
Almmustuhtton: (2017-06-01)

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
Dahkki: Romy Walker, et al.
Almmustuhtton: (2025-02-01)

Cellular Repair of Synthetic Analogs of Oxidative DNA Damage Reveals a Key Structure–Activity Relationship of the Cancer-Associated MUTYH DNA Repair Glycosylase
Dahkki: Savannah G. Conlon, et al.
Almmustuhtton: (2024-01-01)

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
Dahkki: Beijer, D, et al.
Almmustuhtton: (2021)

Simplifying the detection of <it>MUTYH </it>mutations by high resolution melting analysis
Dahkki: López-Villar Isabel, et al.
Almmustuhtton: (2010-08-01)

Genomic 8-oxoguanine modulates gene transcription independent of its repair by DNA glycosylases OGG1 and MUTYH
Dahkki: Tobias Obermann, et al.
Almmustuhtton: (2025-02-01)

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Dahkki: Rodriguez-Rojas LX, et al.
Almmustuhtton: (2023-04-01)

MutYH-associated polyposis
Dahkki: M Kh Toboeva, et al.
Almmustuhtton: (2019-02-01)

DNA damage repair and bacterial pathogens.
Dahkki: Darja Žgur-Bertok
Almmustuhtton: (2013-01-01)

Evolutionary Origin of <i>MUTYH</i> Germline Pathogenic Variations in Modern Humans
Dahkki: Fengxia Xiao, et al.
Almmustuhtton: (2023-02-01)

Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report
Dahkki: Bei Zhao, et al.
Almmustuhtton: (2023-12-01)

Monoallelic MUTYH mutations and hereditary breast cancer - results of an epidemiologic study in Brazil
Dahkki: R.O. Sant’Ana, et al.
Almmustuhtton: (2021-04-01)

Cost-utility analysis of genetic screening in families of patients with germline <it>MUTYH </it>mutations
Dahkki: Vasen Hans FA, et al.
Almmustuhtton: (2007-07-01)

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
Dahkki: Philip S. Robinson, et al.
Almmustuhtton: (2022-07-01)

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
Dahkki: Lu Yang, et al.
Almmustuhtton: (2020-03-01)

Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation
Dahkki: Chan, Jason Yongsheng, et al.
Almmustuhtton: (2021)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
Dahkki: Amber Hildreth, et al.
Almmustuhtton: (2018-01-01)

Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition
Dahkki: V. J. Forster, et al.
Almmustuhtton: (2024-03-01)

Fluorescence Sheds Light on DNA Damage, DNA Repair, and Mutations
Dahkki: Owiti, Norah Auma, et al.
Almmustuhtton: (2022)

DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis
Dahkki: Anna Konopka, et al.
Almmustuhtton: (2022-04-01)

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Dahkki: Gabrielle Olley, et al.
Almmustuhtton: (2021-05-01)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
Dahkki: Giovanna Forte, et al.
Almmustuhtton: (2023-07-01)

Biallelic mutations in UGDH cause congenital microcephaly
Dahkki: Li Shu, et al.
Almmustuhtton: (2023-09-01)

OGG1 and MUTYH repair activities promote telomeric 8-oxoguanine induced senescence in human fibroblasts
Dahkki: Mariarosaria De Rosa, et al.
Almmustuhtton: (2025-01-01)

MUTYH-associated polyposis (MAP), the syndrome implicating Base Excision Repair in inherited predisposition to colorectal tumors
Dahkki: Tiziana eVenesio, et al.
Almmustuhtton: (2012-08-01)

The Mutyh base excision repair gene influences the inflammatory response in a mouse model of ulcerative colitis.
Dahkki: Ida Casorelli, et al.
Almmustuhtton: (2010-01-01)

Mutational signatures are jointly shaped by DNA damage and repair
Dahkki: Nadezda V. Volkova, et al.
Almmustuhtton: (2020-05-01)

Synergistic Actions of Ogg1 and Mutyh DNA Glycosylases Modulate Anxiety-like Behavior in Mice
Dahkki: Monica D. Bjørge, et al.
Almmustuhtton: (2015-12-01)

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
Dahkki: Sherwood, K, et al.
Almmustuhtton: (2023)

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects
Dahkki: Ola Hammarsten, et al.
Almmustuhtton: (2022-02-01)

Genetic variants in MUTYH are not associated with endometrial cancer risk
Dahkki: Ashton Katie A, et al.
Almmustuhtton: (2009-01-01)

Molecular analysis of the <it>APC </it>and <it>MUTYH </it>genes in Galician and Catalonian FAP families: a different spectrum of mutations?
Dahkki: Gómez-Fernández Nuria, et al.
Almmustuhtton: (2009-06-01)

Dental malformations associated with biallelic MMP20 mutations
Dahkki: Shih‐Kai Wang, et al.
Almmustuhtton: (2020-08-01)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Dahkki: Martin Krenn, et al.
Almmustuhtton: (2019-05-01)

P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY
Dahkki: D. Mayr, et al.
Almmustuhtton: (2022-06-01)

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation
Dahkki: Tim Ripperger, et al.
Almmustuhtton: (2010-05-01)