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Human Mutation, ISSN 1059-7794, 11/2019, Volume 40, Issue 11, pp. 1910 - 1923
Technological advances have allowed the identification of new adenomatous and serrated polyposis genes, and of several candidate genes that require additional... 
POLQ | RNF43 | FOCAD | adenomatous polyposis | MSH3 | NTHL1 | MCM9 | genetic predisposition | hereditary cancer | Medicine, Experimental | Genetic research | Medical research | Analysis | Genes | Literature reviews | Polyposis | Mutation
Journal Article
Cancer Cell, ISSN 1535-6108, 02/2019, Volume 35, Issue 2, pp. 256 - 266.e5
Biallelic germline mutations affecting predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe... 
adenomatous polyposis | colorectal cancer | somatic mutation spectrum | NTHL1 | base excision repair | genetic predisposition | DNA repair defect | breast cancer | multiple malignancies | mutational signature | ONCOLOGY | POLYPOSIS | GERMLINE MUTATIONS | RISK | LYNCH SYNDROME | SPECTRUM | CANCER | MUTYH | CELL BIOLOGY | Analysis | Genetic aspects | Tumors
Journal Article
Free Radical Biology and Medicine, ISSN 0891-5849, 02/2019, Volume 131, pp. 264 - 273
The gene encodes DNA glycosylase, which is involved in base excision repair, and biallelic mutations of this gene result in -associated polyposis (NAP), a... 
5-hydroxyuracil | C→T mutation | NTHL1 | NTHL1-associated polyposis | DNA glycosylase | DNA cleavage activity assay | supF forward mutation assay | BASE-EXCISION-REPAIR | THYMINE GLYCOL | BIOCHEMISTRY & MOLECULAR BIOLOGY | IDENTIFICATION | C -> T mutation | MESSENGER-RNAS | GENE | 5-FORMYLURACIL | ENDOCRINOLOGY & METABOLISM | TRANSVERSIONS | MUTATIONS | NEIL1 | MUTYH
Journal Article
Familial Cancer, ISSN 1389-9600, 4/2019, Volume 18, Issue 2, pp. 179 - 182
While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic... 
Human Genetics | Biomedicine, general | Biomedicine | NTHL1 | Colorectal cancer | Cancer Research | NAP | Epidemiology | Polyposis | ONCOLOGY | GENETICS & HEREDITY | MUTATIONS | Colon cancer | Phenotypes | Proofreading | Colorectal carcinoma | Familial adenomatous polyposis | Heredity | Health risk assessment | Base excision repair | Cancer | Tumors
Journal Article
Journal Article
Oncotarget, ISSN 1949-2553, 2015, Volume 6, Issue 33, pp. 34069 - 34070
Journal Article
DNA Repair, ISSN 1568-7864, 12/2016, Volume 48, pp. 51 - 62
Journal Article
Molecular Metabolism, ISSN 2212-8778, 2013, Volume 2, Issue 4, pp. 480 - 490
Abstract Studies in human and animals have demonstrated that nutritionally induced low birth-weight followed by rapid postnatal growth increases the risk of... 
Endocrinology & Metabolism | Developmental programming | Ubiquinone | Oxidative-stress | Telomere length | DNA damage | Cellular senescence
Journal Article
Journal of Molecular Biology, ISSN 0022-2836, 10/1998, Volume 282, Issue 4, pp. 761 - 774
Endonuclease III (endoIII; nth gene product) of Escherichia coli is known to be a DNA repair enzyme having a relatively broad specificity for damaged... 
AP lyase | DNA glycosylase | mouse Nthl1 gene | thymine glycol DNA glycosylase | urea DNA glycosylase | Urea DNA glycosylase | Thymine glycol DNA glycosylase | Mouse Nthl1 gene | DNA-REPAIR ENZYME | THYMINE GLYCOL | OXIDATIVE DAMAGE | TUBEROUS-SCLEROSIS-2 TSC2 GENE | EXONUCLEASE-III | BIOCHEMISTRY & MOLECULAR BIOLOGY | BETA-ELIMINATION | BASE EXCISION | APYRIMIDINIC SITES | SACCHAROMYCES-CEREVISIAE | MESSENGER-RNA | Blotting, Southern | Recombinant Fusion Proteins - isolation & purification | Humans | Thymine - analogs & derivatives | Molecular Sequence Data | RNA, Messenger - metabolism | Recombinant Fusion Proteins - metabolism | DNA Glycosylases | Deoxyribonuclease (Pyrimidine Dimer) | DNA-(Apurinic or Apyrimidinic Site) Lyase | Cloning, Molecular | Endodeoxyribonucleases - metabolism | Urea - metabolism | Response Elements - genetics | Thymine - metabolism | Expressed Sequence Tags | Recombinant Fusion Proteins - biosynthesis | Amino Acid Sequence | Escherichia coli - enzymology | Introns - genetics | Physical Chromosome Mapping | RNA, Messenger - genetics | Repressor Proteins - genetics | Exons - genetics | Endodeoxyribonucleases - chemistry | Recombinant Fusion Proteins - chemistry | Open Reading Frames - genetics | N-Glycosyl Hydrolases - metabolism | Endodeoxyribonucleases - isolation & purification | Sequence Homology, Amino Acid | Endodeoxyribonucleases - genetics | Animals | Escherichia coli Proteins | Escherichia coli - genetics | Carbon-Oxygen Lyases - metabolism | Deoxyribonuclease IV (Phage T4-Induced) | Mice | Mice, Inbred BALB C | Tumor Suppressor Proteins
Journal Article