139 related articles for article (PubMed ID: 36828923)
1. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization.
Bozsik A; Butz H; Grolmusz VK; Polgár C; Patócs A; Papp J
Eur J Hum Genet; 2023 Jul; 31(7):841-845. PubMed ID: 36828923
[TBL] [Abstract][Full Text] [Related]
2. A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.
Wang D; Liang S; Zhang Z; Zhao G; Hu Y; Liang S; Zhang X; Banerjee S
Oncotarget; 2017 Mar; 8(13):21327-21335. PubMed ID: 28423518
[TBL] [Abstract][Full Text] [Related]
3. Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.
Neklason DW; Solomon CH; Dalton AL; Kuwada SK; Burt RW
Fam Cancer; 2004; 3(1):35-40. PubMed ID: 15131404
[TBL] [Abstract][Full Text] [Related]
4. Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.
Zhang S; Qin H; Lv W; Luo S; Wang J; Fu C; Ma R; Shen Y; Chen S; Wu L
Gene; 2016 Feb; 577(2):187-92. PubMed ID: 26625971
[TBL] [Abstract][Full Text] [Related]
5. A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
Jiang SS; Li JJ; Li Y; He LJ; Wang QJ; Weng DS; Pan K; Liu Q; Zhao JJ; Pan QZ; Zhang XF; Tang Y; Chen CL; Zhang HX; Xu GL; Zeng YX; Xia JC
Oncotarget; 2015 Sep; 6(29):27267-74. PubMed ID: 26311738
[TBL] [Abstract][Full Text] [Related]
6. Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.
Nieminen TT; Pavicic W; Porkka N; Kankainen M; Järvinen HJ; Lepistö A; Peltomäki P
Oncotarget; 2016 Oct; 7(43):70685-70698. PubMed ID: 27683109
[TBL] [Abstract][Full Text] [Related]
7. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
Spier I; Horpaopan S; Vogt S; Uhlhaas S; Morak M; Stienen D; Draaken M; Ludwig M; Holinski-Feder E; Nöthen MM; Hoffmann P; Aretz S
Hum Mutat; 2012 Jul; 33(7):1045-50. PubMed ID: 22431159
[TBL] [Abstract][Full Text] [Related]
8. Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in
Nieminen TT; Walker CJ; Olkinuora A; Genutis LK; O'Malley M; Wakely PE; LaGuardia L; Koskenvuo L; Arola J; Lepistö AH; Brock P; Yilmaz AS; Eisfeld AK; Church JM; Peltomäki P; de la Chapelle A
Thyroid; 2020 Mar; 30(3):380-388. PubMed ID: 32024448
[No Abstract] [Full Text] [Related]
9. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
10. Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J; Kovacs ME; Matrai Z; Orosz E; Kásler M; Børresen-Dale AL; Olah E
Fam Cancer; 2016 Jan; 15(1):85-97. PubMed ID: 26446593
[TBL] [Abstract][Full Text] [Related]
11. 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.
Wang D; Liang S; Zhang X; Dey SK; Li Y; Xu C; Yu Y; Li M; Zhao G; Zhang Z
Mol Genet Genomic Med; 2019 Jan; 7(1):e00505. PubMed ID: 30523670
[TBL] [Abstract][Full Text] [Related]
12. Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.
Khider F; Cherbal F; Boumehdi AL; Layaida K; Mahfouf H; Zebboudj F; Maaoui M
Mol Biol Rep; 2022 May; 49(5):3823-3837. PubMed ID: 35142982
[TBL] [Abstract][Full Text] [Related]
13. Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
Ghadamyari F; Heidari MM; Zeinali S; Khatami M; Merat S; Bagherian H; Rejali L; Ghasemi F
J Clin Lab Anal; 2021 May; 35(5):e23768. PubMed ID: 33769591
[TBL] [Abstract][Full Text] [Related]
14. A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.
Majumder S; Shah R; Elias J; Mistry Y; Coral K; Shah P; Maurya AK; Mittal B; D'Silva JK; Murugan S; Mahadevan L; Sathian R; Ramprasad VL; Chakraborty P; Gupta R; Chaudhuri A; Khanna-Gupta A
PLoS One; 2018; 13(9):e0203845. PubMed ID: 30256815
[TBL] [Abstract][Full Text] [Related]
15. Role of a Rare Variant in APC Gene Promoter 1B Region in Classic Familial Adenomatous Polyposis.
Yang M; Zhu L; Zhu L; Xu D; Yuan Y
Digestion; 2021; 102(4):527-533. PubMed ID: 32702694
[TBL] [Abstract][Full Text] [Related]
16. A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.
Wanitsuwan W; Vijasika S; Jirarattanasopa P; Horpaopan S
BMC Med Genomics; 2021 Mar; 14(1):87. PubMed ID: 33740971
[TBL] [Abstract][Full Text] [Related]
17. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.
Elsayed FA; Tops CMJ; Nielsen M; Morreau H; Hes FJ; van Wezel T
Fam Cancer; 2022 Jan; 21(1):79-83. PubMed ID: 33683519
[TBL] [Abstract][Full Text] [Related]
18. A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.
Pouya F; Mojtabanezhad Shariatpanahi A; Ghaffarzadegan K; Tabatabaee Yazdi SA; Golmohammadzadeh H; Soltani G; Aminian Toosi K; Kerachian MA
Mol Genet Genomic Med; 2018 Nov; 6(6):1031-1040. PubMed ID: 30259713
[TBL] [Abstract][Full Text] [Related]
19. Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.
Liu WQ; Dong J; Peng YX; Li WL; Yang J
Mol Med Rep; 2018 Dec; 18(6):4931-4939. PubMed ID: 30272267
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
Ruiz-Ponte C; Vega A; Carracedo A; Barros F
Hum Mutat; 2001 Oct; 18(4):355. PubMed ID: 11668620
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
