ファンコニー貧血
ファンコーニ貧血
(ファンコニー貧血 から転送)
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2024/04/15 13:41 UTC 版)
ファンコーニ貧血（ファンコーニひんけつ、Fanconi anemia、FA) は 、遺伝子疾患のひとつであり、350,000人に1人の割合で生じるが、アシュケナージユダヤ人や南アフリカのアフリカーナーではより高い確率で発症する[1]。
- ^ Fanconi's Anemia Orphanet Encyclopedia, Ethel Moustacchi, October 2003
- ^ a b c Schwartz, Robert S.; d'Andrea, Alan D. (May 2010). “Susceptibility pathways in Fanconi's anemia and breast cancer”. N. Engl. J. Med. 362 (20): 1909–1919. doi:10.1056/NEJMra0809889. PMC 3069698. PMID 20484397.
- ^ synd/61 - Who Named It?
- ^ Fanconi, G.. “Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution)”. Jahrbuch für Kinderheilkunde.
- ^ Kutler DI, Auerbach AD (2004). “Fanconi anemia in Ashkenazi Jews”. Fam. Cancer 3 (3–4): 241–248. doi:10.1007/s10689-004-9565-8. PMID 15516848.
- ^ Fanconi Anemia Treatment & Management: Approach Considerations, Supportive Care, Hematopoietic Stem Cell Transplantation and Androgen Therapy. (2022-07-08).
- ^ Page 29 in Moore, Pete (2007). The Debate About Genetic Engineering (Ethical Debates). New York, NY: Rosen Central. ISBN 1-4042-3754-2
- ^ Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A (2001). “, Preimplantation diagnosis for Fanconi anemia combined with HLA matching”. JAMA 285 (24): 3130–3133. doi:10.1001/jama.285.24.3130. PMID 11427142.
- ^ Institut Biologia Fonamental de Barcelona, "Constitutional chromosomal instability: a case with three primary and sequential cancers", USUJ 2009. Retrieved 2010-04-13
- ^ Butturini, A.; Gale, R. P.; Verlander, P. C.; Adler-Brecher, B.; Gillio, A. P.; Auerbach, A. D. (1994-09-01). “Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study”. Blood 84 (5): 1650–1655. ISSN 0006-4971. PMID 8068955.
- ^ Zhang X, Li J, Sejas DP, Pang Q (2005). “Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells”. Blood 106 (1): 75–85. doi:10.1182/blood-2004-08-3033. PMID 15769896.
- ^ Deans AJ, West SC (December 2009). “FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia”. Mol. Cell 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.
- ^ Vandenberg CJ, Gergely F, Ong CY et al. (2003). “BRCA1-independent ubiquitination of FANCD2”. Mol. Cell 12 (1): 247–254. doi:10.1016/S1097-2765(03)00281-8. PMID 12887909.
- ^ Garcia-Higuera I, Taniguchi T, Ganesan S et al. (2001). “Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway”. Mol. Cell 7 (2): 249–262. doi:10.1016/S1097-2765(01)00173-3. PMID 11239454.
- ^ Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000). “BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures”. Genes Dev. 14 (8): 927–39. PMC 316544. PMID 10783165.
- ^ Cortez D, Wang Y, Qin J, Elledge SJ (1999). “Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks”. Science 286 (5442): 1162–1166. doi:10.1126/science.286.5442.1162. PMID 10550055.
- ^ Howlett NG, Taniguchi T, Olson S et al. (2002). “Biallelic inactivation of BRCA2 in Fanconi anemia”. Science 297 (5581): 606–609. doi:10.1126/science.1073834. PMID 12065746.
- ^ Connor F, Bertwistle D, Mee PJ et al. (1997). “Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation”. Nat. Genet. 17 (4): 423–430. doi:10.1038/ng1297-423. PMID 9398843.
- ^ Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989). “International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity”. Blood 73 (2): 391–6. PMID 2917181.
- ^ de Winter JP, Waisfisz Q, Rooimans MA et al. (1998). “The Fanconi anaemia group G gene FANCG is identical with XRCC9”. Nat. Genet. 20 (3): 281–283. doi:10.1038/3093. PMID 9806548.
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