Fanconi anemia, complementation group C

Fanconi anemia, complementation group C, also known as FANCC, is a human gene.cite web | title = Entrez Gene: FANCC Fanconi anemia, complementation group C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2176| accessdate = ]

PBB_Summary
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summary_text = The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia.cite web | title = Entrez Gene: FANCC Fanconi anemia, complementation group C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2176| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Strathdee CA, Duncan AM, Buchwald M |title=Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. |journal=Nat. Genet. |volume=1 |issue= 3 |pages= 196–8 |year= 1993 |pmid= 1303234 |doi= 10.1038/ng0692-196
*cite journal | author=Strathdee CA, Gavish H, Shannon WR, Buchwald M |title=Cloning of cDNAs for Fanconi's anaemia by functional complementation. |journal=Nature |volume=356 |issue= 6372 |pages= 763–7 |year= 1992 |pmid= 1574115 |doi= 10.1038/356763a0
*cite journal | author=Strathdee CA, Gavish H, Shannon WR, Buchwald M |title=Cloning of cDNAs for Fanconi's anaemia by functional complementation. |journal=Nature |volume=358 |issue= 6385 |pages= 434 |year= 1992 |pmid= 1641028 |doi= 10.1038/358434a0
*cite journal | author=Verlander PC, Kaporis A, Liu Q, "et al." |title=Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. |journal=Blood |volume=86 |issue= 11 |pages= 4034–8 |year= 1996 |pmid= 7492758 |doi=
*cite journal | author=Yamashita T, Barber DL, Zhu Y, "et al." |title=The Fanconi anemia polypeptide FACC is localized to the cytoplasm. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6712–6 |year= 1994 |pmid= 7517562 |doi=
*cite journal | author=Segal GM, Magenis RE, Brown M, "et al." |title=Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. |journal=J. Clin. Invest. |volume=94 |issue= 2 |pages= 846–52 |year= 1994 |pmid= 7518843 |doi=
*cite journal | author=Youssoufian H |title=Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 17 |pages= 7975–9 |year= 1994 |pmid= 8058745 |doi=
*cite journal | author=Whitney MA, Jakobs P, Kaback M, "et al." |title=The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. |journal=Hum. Mutat. |volume=3 |issue= 4 |pages= 339–41 |year= 1994 |pmid= 8081385 |doi= 10.1002/humu.1380030402
*cite journal | author=Murer-Orlando M, Llerena JC, Birjandi F, "et al." |title=FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. |journal=Lancet |volume=342 |issue= 8872 |pages= 686 |year= 1993 |pmid= 8103176 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Verlander PC, Lin JD, Udono MU, "et al." |title=Mutation analysis of the Fanconi anemia gene FACC. |journal=Am. J. Hum. Genet. |volume=54 |issue= 4 |pages= 595–601 |year= 1994 |pmid= 8128956 |doi=
*cite journal | author=Whitney MA, Saito H, Jakobs PM, "et al." |title=A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. |journal=Nat. Genet. |volume=4 |issue= 2 |pages= 202–5 |year= 1993 |pmid= 8348157 |doi= 10.1038/ng0693-202
*cite journal | author=Gibson RA, Buchwald M, Roberts RG, Mathew CG |title=Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. |journal=Hum. Mol. Genet. |volume=2 |issue= 1 |pages= 35–8 |year= 1993 |pmid= 8490620 |doi=
*cite journal | author=Gavish H, dos Santos CC, Buchwald M |title=A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. |journal=Hum. Mol. Genet. |volume=2 |issue= 2 |pages= 123–6 |year= 1993 |pmid= 8499901 |doi=
*cite journal | author=Youssoufian H, Li Y, Martin ME, Buchwald M |title=Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. |journal=J. Clin. Invest. |volume=97 |issue= 4 |pages= 957–62 |year= 1996 |pmid= 8613549 |doi=
*cite journal | author=Yamashita T, Wu N, Kupfer G, "et al." |title=Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. |journal=Blood |volume=87 |issue= 10 |pages= 4424–32 |year= 1996 |pmid= 8639804 |doi=
*cite journal | author=Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F |title=Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. |journal=Hum. Mutat. |volume=7 |issue= 3 |pages= 264–5 |year= 1996 |pmid= 8829660 |doi= 10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0
*cite journal | author=Gibson RA, Morgan NV, Goldstein LH, "et al." |title=Novel mutations and polymorphisms in the Fanconi anemia group C gene. |journal=Hum. Mutat. |volume=8 |issue= 2 |pages= 140–8 |year= 1996 |pmid= 8844212 |doi= 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F
*cite journal | author=Kupfer GM, Yamashita T, Naf D, "et al." |title=The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. |journal=Blood |volume=90 |issue= 3 |pages= 1047–54 |year= 1997 |pmid= 9242535 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=

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