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...

Bibliografski detalji
Glavni autori:	Parker, A, Sieber, O, Shi, C, Hua, L, Takao, M, Tomlinson, I, Eshleman, JR
Format:	Journal article
Jezik:	English
Izdano:	2005

Slični predmeti

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
od: Peter Georgeson, i dr.
Izdano: (2022-06-01)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
od: Thirlwell, C, i dr.
Izdano: (2007)

Regulation of oxidative DNA damage repair by DNA polymerase λ and MutYH by cross-talk of phosphorylation and ubiquitination.
od: Markkanen, E, i dr.
Izdano: (2012)

Base excision repair and the role of <it>MUTYH</it>
od: Kairupan Carla, i dr.
Izdano: (2007-12-01)

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer
od: Alessandra Viel, i dr.
Izdano: (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
od: Romy Walker, i dr.
Izdano: (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
od: Savannah G. Conlon, i dr.
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Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
od: Beijer, D, i dr.
Izdano: (2021)

Simplifying the detection of <it>MUTYH </it>mutations by high resolution melting analysis
od: López-Villar Isabel, i dr.
Izdano: (2010-08-01)

Genomic 8-oxoguanine modulates gene transcription independent of its repair by DNA glycosylases OGG1 and MUTYH
od: Tobias Obermann, i dr.
Izdano: (2025-02-01)

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
od: Rodriguez-Rojas LX, i dr.
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MutYH-associated polyposis
od: M Kh Toboeva, i dr.
Izdano: (2019-02-01)

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

Evolutionary Origin of <i>MUTYH</i> Germline Pathogenic Variations in Modern Humans
od: Fengxia Xiao, i dr.
Izdano: (2023-02-01)

Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report
od: Bei Zhao, i dr.
Izdano: (2023-12-01)

Monoallelic MUTYH mutations and hereditary breast cancer - results of an epidemiologic study in Brazil
od: R.O. Sant’Ana, i dr.
Izdano: (2021-04-01)

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
od: Philip S. Robinson, i dr.
Izdano: (2022-07-01)

Biallelic mutations in UGDH cause congenital microcephaly
od: Li Shu, i dr.
Izdano: (2023-09-01)

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
od: Lu Yang, i dr.
Izdano: (2020-03-01)

Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation
od: Chan, Jason Yongsheng, i dr.
Izdano: (2021)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
od: Amber Hildreth, i dr.
Izdano: (2018-01-01)

Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition
od: V. J. Forster, i dr.
Izdano: (2024-03-01)

Fluorescence Sheds Light on DNA Damage, DNA Repair, and Mutations
od: Owiti, Norah Auma, i dr.
Izdano: (2022)

DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis
od: Anna Konopka, i dr.
Izdano: (2022-04-01)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
od: Giovanna Forte, i dr.
Izdano: (2023-07-01)

OGG1 and MUTYH repair activities promote telomeric 8-oxoguanine induced senescence in human fibroblasts
od: Mariarosaria De Rosa, i dr.
Izdano: (2025-01-01)

MUTYH-associated polyposis (MAP), the syndrome implicating Base Excision Repair in inherited predisposition to colorectal tumors
od: Tiziana eVenesio, i dr.
Izdano: (2012-08-01)

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
od: Sherwood, K, i dr.
Izdano: (2023)

Genetic variants in MUTYH are not associated with endometrial cancer risk
od: Ashton Katie A, i dr.
Izdano: (2009-01-01)

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects
od: Ola Hammarsten, i dr.
Izdano: (2022-02-01)

Dental malformations associated with biallelic MMP20 mutations
od: Shih‐Kai Wang, i dr.
Izdano: (2020-08-01)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
od: Martin Krenn, i dr.
Izdano: (2019-05-01)

P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY
od: D. Mayr, i dr.
Izdano: (2022-06-01)

Oxidative DNA Damage and Repair: Mechanisms, Mutations, and Relation to Diseases
od: Marina Roginskaya, i dr.
Izdano: (2023-08-01)

DNA damage repair mutations in pancreatic cancer– prognostic or predictive?
od: Ya-Fei Hu, i dr.
Izdano: (2023-10-01)

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation
od: Tim Ripperger, i dr.
Izdano: (2010-05-01)

Biallelic FBXW7 knockout induces AKAP8-mediated DNA damage in neighbouring wildtype cells
od: Dedrick Kok Hong Chan, i dr.
Izdano: (2023-06-01)

Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation
od: Yang Liu, i dr.
Izdano: (2023-03-01)

<i>MUTYH</i> as an Emerging Predictive Biomarker in Ovarian Cancer
od: Megan L. Hutchcraft, i dr.
Izdano: (2021-01-01)

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
od: Kitty Sherwood, i dr.
Izdano: (2023-06-01)