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1دورية أكاديمية
المؤلفون: Julia Guarrera, James C. Prezzano, Kathleen A. Mannava
المصدر: Dermatopathology, Vol 11, Iss 1, Pp 124-128 (2024)
مصطلحات موضوعية: Lynch syndrome, MUTYH associated polyposis, Muire–Torre syndrome, sebaceoma, colorectal cancer, sebaceous neoplasm, Dermatology, RL1-803
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
مصطلحات موضوعية: Polymerase proofreading-associated polyposis, PPAP, Polymerase epsilon, Polymerase delta, Proofreading deficiency, Mutational signatures, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Savannah G. Conlon, Cindy Khuu, Carlos H. Trasviña-Arenas, Tian Xia, Michelle L. Hamm, Alan G. Raetz, Sheila S. David
مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Biotechnology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, thereby thwart mutagenesis, oxidatively damaged base, much less stringent, kinetic parameters measured, adenine glycosylase assays, adenine glycosylase activity, >- associated polyposis, human cell lines, selective mutyh inhibitors, amino group suggests, > sub >, mediated cellular repair, inherited mutyh variants, og within og, cellular repair results, amino group, > sub, cellular repair, mutyh variants, human enzyme, cellular setting, sub ><, results predict, results imply
الإتاحة: https://doi.org/10.1021/acscentsci.3c00784.s002Test
https://figshare.com/articles/journal_contribution/Cellular_Repair_of_Synthetic_Analogs_of_Oxidative_DNA_Damage_Reveals_a_Key_Structure_Activity_Relationship_of_the_Cancer-Associated_MUTYH_DNA_Repair_Glycosylase/25075229Test -
4دورية أكاديمية
المؤلفون: A. N. Loginova, Yu. A. Shelygin, V. P. Shubin, A. M. Kuzminov, D. Yu. Pikunov, T. A. Saveleva, A. S. Tsukanov
المصدر: Российский журнал гастроэнтерологии, гепатологии, колопроктологии, Vol 33, Iss 1, Pp 59-67 (2023)
مصطلحات موضوعية: familial adenomatous polyposis, mutyh-associated polyposis, peutz–jeghers syndrome, large gene rearrangements, mlpa method, Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
العلاقة: https://www.gastro-j.ru/jour/article/view/760Test; https://doaj.org/toc/1382-4376Test; https://doaj.org/toc/2658-6673Test
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5دورية أكاديمية
المؤلفون: Makoto Eizuka, Satoshi Kasugai, Shunichi Yanai, Takashi Kosaka, Takayuki Matsumoto, Tamotsu Sugai, Tomofumi Oizumi, Toshifumi Morishita, Yosuke Toya
المصدر: Internal Medicine. 2023, 62(18):2651
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6دورية أكاديمية
المؤلفون: Kidambi, Trilokesh D, Goldberg, Dena, Nussbaum, Robert, Blanco, Amie, Umetsu, Sarah E, Terdiman, Jonathan P, Lee, Jeffrey K
المصدر: Clinical Journal of Gastroenterology. 11(6)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Oncology and Carcinogenesis, Rare Diseases, Clinical Research, Genetic Testing, Digestive Diseases, Prevention, Colo-Rectal Cancer, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adenomatous Polyposis Coli, DNA Glycosylases, Exons, Genetic Counseling, Humans, Male, Middle Aged, Phenotype, Point Mutation, MUTYH, MYH-associated polyposis, Hereditary cancer syndrome, Polyposis, Multiple colorectal adenomas
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1s72n1r7Test
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7دورية أكاديمية
المؤلفون: Tatiana S. Belysheva, Tatiana V. Nasedkina, Timur T. Valiev, Elena V. Sharapova, Vera V. Semenova, Valentina M. Kozlova, Svetlana N. Mikhaylova, Irina S. Kletskaya, Alexey V. Butuzov, Yana V. Vishnevskaja, Valeria V. Lozovaya, Olga A. Gusarova, Armen O. Tumanyan, Olga A. Malichova, Svetlana R. Varfolomeeva, Т. С. Белышева, Т. В. Наседкина, Т. Т. Валиев, Е. В. Шарапова, В. В. Семенова, В. М. Козлова, С. Н. Михайлова, И. С. Клецкая, А. В. Бутузов, Я. В. Вишневская, В. В. Лозовая, О. А. Гусарова, А. О. Туманян, О. А. Малихова, С. Р. Варфоломеева
المساهمون: Not specified., Отсутствует.
المصدر: Current Pediatrics; Том 22, № 4 (2023); 331-342 ; Вопросы современной педиатрии; Том 22, № 4 (2023); 331-342 ; 1682-5535 ; 1682-5527
مصطلحات موضوعية: PTEN, hamartomatous polyposis, adenomatous polyposis, Peutz-Jeghers syndrome, Cowden syndrome, hereditary juvenile polyposis, familial adenomatous polyposis, MUTYH-associated polyposis, Lynch syndrome, endoscopic examination, endoscopic treatment, polypectomy, colorectal cancer, gene mutation, APC, MUTYH, STK11, SMAD4, BMPR1A, гамартомные полипозы, аденоматозные полипозы, синдром Пейтца-Егерса, синдром Коудена, наследственный ювенильный полипоз, семейный аденоматозный полипоз, MUTYH-ассоциированный полипоз, синдром Линча, эндоскопическая диагностика, эндоскопическое лечение, полипэктомия
وصف الملف: application/pdf
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Curr Opin Gastroenterol. 2021;37(3):245–254. doi: https://doi.org/10.1097/MOG.0000000000000718Test; Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23(2): 219–231. doi: https://doi.org/10.1016/j.bpg.2009.02.007Test; Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008;204(7):431–447. doi: https://doi.org/10.1016/j.prp.2008.03.008Test; Wu M, Krishnamurthy K. Peutz-Jeghers Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022.; Burke CA, Santisi J, Church J, Levinthal G. The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol. 2005;100(7):1498–1502. doi: https://doi.org/10.1111/j.1572-0241.2005.41506.xTest; Mata A, Llach J, Castells A, et al. A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc. 2005;61(6):721–725. doi: https://doi.org/10.1016/s0016-5107Test(05)00289-0; Soares J, Lopes L, Vilas Boas G, Pinho C. Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives. Endoscopy. 2004;36(12):1060–1066. doi: https://doi.org/10.1055/s-2004-826038Test; Hruban RH, Canto MI, Yeo CJ. Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer. Dig Dis. 2001;19(1):76–84. doi: https://doi.org/10.1159/000050656Test; Lam-Himlin D, Park JY, Cornish TC, et al. Morphologic characterization of syndromic gastric polyps. Am J Surg Pathol. 2010;34(11):1656–1662. doi: https://doi.org/10.1097/PAS.0b013e3181f2b1f1Test; Brosens LA, Wood LD, Offerhaus GJ, et al. Pathology and Genetics of Syndromic Gastric Polyps. Int J Surg Pathol. 2016;24(3): 185–199. doi: https://doi.org/10.1177/1066896915620013Test; Kato M, Mizuki A, Hayashi T, et al. Cowden’s disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis. Intern Med. 2000;39(7):559–563. doi: https://doi.org/10.2169/internalmedicine.39.559Test; McGarrity TJ, Wagner Baker MJ, Ruggiero FM, et al. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol. 2003;98(6):1429–1434. doi: https://doi.org/10.1111/j.1572-0241.2003.07496.xTest; Garofola C, Jamal Z, Gross GP. Cowden Disease. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.; Heald B, Mester J, Rybicki L, et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010;139(6): 1927–1933. doi: https://doi.org/10.1053/j.gastro.2010.06.061Test; Coriat R, Mozer M, Caux F, et al. Endoscopic findings in Cowden syndrome [published correction appears in Endoscopy. 2011;43(12):1096. Endoscopy. 2011;43(8):723–726. doi: https://doi.org/10.1055/s-0030-1256342Test; Chung DC, Adar T. Juvenile polyposis syndrome. In: UpToDate. Available online: https://www.uptodate.com/contents/juvenileTest-polyposis-syndrome. Accessed on August 20, 2923.; van Hattem WA, Langeveld D, de Leng WW, et al. Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis. Am J Surg Pathol. 2011;35(4): 530–536. doi: https://doi.org/10.1097/PAS.0b013e318211cae1Test; Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis — a precancerous condition. Histopathology. 1988;13(6):619–630. doi: https://doi.org/10.1111/j.1365-2559.1988.tb02093.xTest; Kang B, Hwang SK, Choi S, et al. Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene. Transl Pediatr. 2021;10(5):1369–1376. doi: https://doi.org/10.21037/tp-21-12Test; Upadhyaya VD, Gangopadhyaya AN, Sharma SP, et al. Juvenile polyposis syndrome. J Indian Assoc Pediatr Surg. 2008;13(4): 128–131. doi: https://doi.org/10.4103/0971-9261.44762Test; Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476–490. doi: https://doi.org/10.1111/j.1572-0241.2005.40237.xTest; Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007;4(9):492–502. doi: https://doi.org/10.1038/ncpgasthep0902Test; Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;4:22. doi: https://doi.org/10.1186/1750-1172-4-22Test; Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E. Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol. 2022;58-59: 101793. doi: https://doi.org/10.1016/j.bpg.2022.101793Test; Carr S, Kasi A. Familial Adenomatous Polyposis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.; Hayashi N, Tanaka S, Hewett DG, et al. Endoscopic prediction of deep submucosal invasive carcinoma: validation of the narrow-band imaging international colorectal endoscopic (NICE) classification. Gastrointest Endosc. 2013;78(4):625–632. doi: https://doi.org/10.1016/j.gie.2013.04.185Test; Coffey A, Patel K, Quintanilla N, et al. Fundic Gland Polyps in the Pediatric Population: Clinical and Histopathologic Studies. Pediatr Dev Pathol. 2017;20(6):482–489. doi: https://doi.org/10.1177/1093526617706816Test; Guarinos C, Juárez M, Egoavil C, et al. Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res. 2014;20(5):1158–1168. doi: https://doi.org/10.1158/1078-0432.CCR-13-1490Test; McGuigan A, Whitworth J, Andreou A, et al. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update. Eur J Hum Genet. 2022;30(3):265–270. doi: https://doi.org/10.1038/s41431-021-01013-6Test; Ferlitsch M, Moss A, Hassan C, et al. Colorectal polypectomy and endoscopic mucosal resection (EMR): European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline. Endoscopy. 2017;49(3):270–297. doi: https://doi.org/10.1055/s-0043-102569Test; Rebuzzi F, Ulivi P, Tedaldi G. Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test? Int J Mol Sci. 2023;24(3):2137. doi: https://doi.org/10.3390/ijms24032137Test; Yalcintepe S, Gurkan H, Demir S, et al. Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients. Tumori. 2020;106(6):510–517. doi: https://doi.org/10.1177/0300891620919171Test; Wang D, Liang S, Zhang X, et al. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis. Mol Genet Genomic Med. 2019;7(1):e00505. doi: https://doi.org/10.1002/mgg3.505Test; https://vsp.spr-journal.ru/jour/article/view/3271Test
الإتاحة: https://doi.org/10.15690/vsp.v22i4.2614Test
https://doi.org/10.4137/CGast.S38452Test
https://doi.org/10.1007/s11938-019-00251-4Test
https://doi.org/10.4240/wjgs.v15.i1.1Test
https://doi.org/10.1097/MPG.0000000000002248Test
https://doi.org/10.1097/MOG.0000000000000718Test
https://doi.org/10.1016/j.bpg.2009.02.007Test
https://doi.org/10.1016/j.prp.2008.03.008Test
https://doi.org/10.1111/j.1572-0241.2005.41506.xTest
https://doi.org/10.1016/s0016-5107Test(05)00289-0 -
8دورية أكاديمية
المساهمون: Bignami, Margherita [Istituto Superiore di Sanita, Rome (Italy)]
المصدر: EBioMedicine; 20
وصف الملف: Medium: ED; Size: p. 39-49
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9دورية أكاديمية
المؤلفون: Banda, Douglas M, Nuñez, Nicole N, Burnside, Michael A, Bradshaw, Katie M, David, Sheila S
مصطلحات موضوعية: Biological Sciences, Genetics, Colo-Rectal Cancer, Human Genome, Digestive Diseases, Prevention, Cancer, Adenomatous Polyposis Coli, Animals, Catalysis, Colorectal Neoplasms, DNA, DNA Glycosylases, DNA Repair, Genetic Predisposition to Disease, Guanine, Humans, Metals, Mutation, Polymorphism, Genetic, Reactive Oxygen Species, Base excision repair, Glycosylase, 8-oxoguanine, MutY, MUTYH, MUTYH-associated polyposis, Fe-S clusters, Medicinal and Biomolecular Chemistry, Biochemistry and Cell Biology, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical biochemistry and metabolomics
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Brinkmeyer, Megan K, David, Sheila S
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Cancer, Genetics, Digestive Diseases, Colo-Rectal Cancer, Prevention, 2.1 Biological and endogenous factors, Aetiology, Adenomatous Polyposis Coli, Cell Cycle Proteins, Colorectal Neoplasms, DNA, DNA Damage, DNA Glycosylases, DNA Repair, Germ-Line Mutation, Humans, Mutation, Missense, Proliferating Cell Nuclear Antigen, Protein Binding, Base excision repair, DNA glycosylase, MUTYH-associated polyposis, 8-Oxoguanine, PCNA, Hus1, Cancer variants, Single nucleotide polymorphisms, Enzyme kinetics, Biochemistry and Cell Biology, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/79j491xbTest