388 related articles for article (PubMed ID: 23623386)
1. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M; Schuster B; Stoepker C; Derkunt B; Su Y; Raams A; Trujillo JP; Minguillón J; Ramírez MJ; Pujol R; Casado JA; Baños R; Rio P; Knies K; Zúñiga S; Benítez J; Bueren JA; Jaspers NG; Schärer OD; de Winter JP; Schindler D; Surrallés J
Am J Hum Genet; 2013 May; 92(5):800-6. PubMed ID: 23623386
[TBL] [Abstract][Full Text] [Related]
2. Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Popp I; Punekar M; Telford N; Stivaros S; Chandler K; Minnis M; Castleton A; Higham C; Hopewell L; Gareth Evans D; Raams A; Theil AF; Meyer S; Schindler D
BMC Med Genet; 2018 Jan; 19(1):7. PubMed ID: 29325523
[TBL] [Abstract][Full Text] [Related]
3. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K; Nakazawa Y; Pilz DT; Guo C; Shimada M; Sasaki K; Fawcett H; Wing JF; Lewin SO; Carr L; Li TS; Yoshiura K; Utani A; Hirano A; Yamashita S; Greenblatt D; Nardo T; Stefanini M; McGibbon D; Sarkany R; Fassihi H; Takahashi Y; Nagayama Y; Mitsutake N; Lehmann AR; Ogi T
Am J Hum Genet; 2013 May; 92(5):807-19. PubMed ID: 23623389
[TBL] [Abstract][Full Text] [Related]
4. Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.
Marín M; Ramírez MJ; Carmona MA; Jia N; Ogi T; Bogliolo M; Surrallés J
Genes (Basel); 2019 Jan; 10(1):. PubMed ID: 30658521
[TBL] [Abstract][Full Text] [Related]
5. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T; Yousefzadeh MJ; Faridounnia M; Chong JX; Hisama FM; Hudgins L; Mercado G; Wade EA; Barghouthy AS; Lee L; Martin GM; Nickerson DA; Bamshad MJ; ; Niedernhofer LJ; Oshima J
Hum Mutat; 2018 Feb; 39(2):255-265. PubMed ID: 29105242
[TBL] [Abstract][Full Text] [Related]
6. The ERCC1 and ERCC4 (XPF) genes and gene products.
Manandhar M; Boulware KS; Wood RD
Gene; 2015 Sep; 569(2):153-61. PubMed ID: 26074087
[TBL] [Abstract][Full Text] [Related]
7. Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A; Bogliolo M; Fernández V; Barroso A; de la Hoya M; Caldés T; Lasa A; Ramón y Cajal T; Santamariña M; Vega A; Quiles F; Lázaro C; Díez O; Fernández D; González-Sarmiento R; Durán M; Piqueras JF; Marín M; Pujol R; Surrallés J; Benítez J
Hum Mutat; 2013 Dec; 34(12):1615-8. PubMed ID: 24027083
[TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.
Schuster B; Knies K; Stoepker C; Velleuer E; Friedl R; Gottwald-Mühlhauser B; de Winter JP; Schindler D
Hum Mutat; 2013 Jan; 34(1):93-6. PubMed ID: 23033263
[TBL] [Abstract][Full Text] [Related]
9. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
Esteban-Jurado C; Franch-Expósito S; Muñoz J; Ocaña T; Carballal S; López-Cerón M; Cuatrecasas M; Vila-Casadesús M; Lozano JJ; Serra E; Beltran S; Brea-Fernández A; Ruiz-Ponte C; Castells A; Bujanda L; Garre P; Caldés T; Cubiella J; Balaguer F; Castellví-Bel S
Eur J Hum Genet; 2016 Oct; 24(10):1501-5. PubMed ID: 27165003
[TBL] [Abstract][Full Text] [Related]
10. Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.
Hashimoto K; Wada K; Matsumoto K; Moriya M
DNA Repair (Amst); 2015 Nov; 35():48-54. PubMed ID: 26453996
[TBL] [Abstract][Full Text] [Related]
11. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs.
Brookman KW; Lamerdin JE; Thelen MP; Hwang M; Reardon JT; Sancar A; Zhou ZQ; Walter CA; Parris CN; Thompson LH
Mol Cell Biol; 1996 Nov; 16(11):6553-62. PubMed ID: 8887684
[TBL] [Abstract][Full Text] [Related]
12. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
Bogliolo M; Bluteau D; Lespinasse J; Pujol R; Vasquez N; d'Enghien CD; Stoppa-Lyonnet D; Leblanc T; Soulier J; Surrallés J
Genet Med; 2018 Apr; 20(4):458-463. PubMed ID: 28837157
[TBL] [Abstract][Full Text] [Related]
13. Fanconi anemia: causes and consequences of genetic instability.
Kalb R; Neveling K; Nanda I; Schindler D; Hoehn H
Genome Dyn; 2006; 1():218-242. PubMed ID: 18724063
[TBL] [Abstract][Full Text] [Related]
14. [The role of the Fanconi anemia pathway in DNA repair and maintenance of genome stability].
Koczorowska AM; Białkowska A; Kluzek K; Zdzienicka MZ
Postepy Hig Med Dosw (Online); 2014 May; 68():459-72. PubMed ID: 24864098
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.
Kohlhase S; Bogdanova NV; Schürmann P; Bermisheva M; Khusnutdinova E; Antonenkova N; Park-Simon TW; Hillemanns P; Meyer A; Christiansen H; Schindler D; Dörk T
PLoS One; 2014; 9(1):e85334. PubMed ID: 24465539
[TBL] [Abstract][Full Text] [Related]
16. Holding All the Cards-How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability.
Datta A; Brosh RM
Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30813363
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
Hira A; Yoshida K; Sato K; Okuno Y; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Shimamoto A; Tahara H; Ito E; Kojima S; Kurumizaka H; Ogawa S; Takata M; Yabe H; Yabe M
Am J Hum Genet; 2015 Jun; 96(6):1001-7. PubMed ID: 26046368
[TBL] [Abstract][Full Text] [Related]
18. Defining the function of xeroderma pigmentosum group F protein in psoralen interstrand cross-link-mediated DNA repair and mutagenesis.
Chen Z; Xu XS; Harrison J; Wang G
Biochem J; 2004 Apr; 379(Pt 1):71-8. PubMed ID: 14728600
[TBL] [Abstract][Full Text] [Related]
19. Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
Ramanagoudr-Bhojappa R; Carrington B; Ramaswami M; Bishop K; Robbins GM; Jones M; Harper U; Frederickson SC; Kimble DC; Sood R; Chandrasekharappa SC
PLoS Genet; 2018 Dec; 14(12):e1007821. PubMed ID: 30540754
[TBL] [Abstract][Full Text] [Related]
20. Deficiency in incisions produced by XPF at the site of a DNA interstrand cross-link in Fanconi anemia cells.
Kumaresan KR; Sridharan DM; McMahon LW; Lambert MW
Biochemistry; 2007 Dec; 46(50):14359-68. PubMed ID: 18020456
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
