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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/28 15:33:39」(JST)
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- 1. 遠位（I型）および近位（II型）尿細管性アシドーシスの病因および診断 etiology and diagnosis of distal type 1 and proximal type 2 renal tubular acidosis
- 2. 小児および思春期における特発性の重症再生不良性貧血およびファンコニ貧血に対する造血細胞移植 hematopoietic cell transplantation for idiopathic severe aplastic anemia and fanconi anemia in children and adolescents
- 3. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children
- 4. 低リン血症の原因 causes of hypophosphatemia
- 5. 小児および思春期における遺伝性再生不良性貧血 inherited aplastic anemia in children and adolescents
English Journal
- Evaluation of resveratrol and N-acetylcysteine for cancer chemoprevention in a Fanconi anemia murine model.
- Zhang QS, Marquez-Loza L, Sheehan AM, Watanabe-Smith K, Eaton L, Benedetti E, Major A, Schubert K, Deater M, Joseph E, Grompe M.Author information Oregon Stem Cell Center, Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.AbstractFanconi anemia (FA) patients suffer from progressive bone marrow failure and often develop cancers. Previous studies showed that antioxidants tempol and resveratrol (RV) delayed tumor onset and reduced hematologic defects in FA murine models, respectively. Here we tested whether antioxidants N-acetylcysteine (NAC) or RV could delay cancer in tumor prone Fancd2(-/-) /Trp53(+/-) mice. Unlike tempol, neither compound had any significant chemopreventive effect in this model. We conclude that not all anti-oxidants are chemopreventive in FA. In addition, when given to Fancd2(-/-) mice, NAC helped maintain Fancd2(-/-) KSL cells in quiescence while tempol did not. The mechanisms behind the different actions of these antioxidants await further investigation. Pediatr Blood Cancer 2014;61:740-742. © 2013 Wiley Periodicals, Inc.
- Pediatric blood & cancer.Pediatr Blood Cancer.2014 Apr;61(4):740-2. doi: 10.1002/pbc.24780. Epub 2013 Sep 20.
- Fanconi anemia (FA) patients suffer from progressive bone marrow failure and often develop cancers. Previous studies showed that antioxidants tempol and resveratrol (RV) delayed tumor onset and reduced hematologic defects in FA murine models, respectively. Here we tested whether antioxidants N-acety
- PMID 24115584
- Acetaldehyde and the genome: Beyond nuclear DNA adducts and carcinogenesis.
- Brooks PJ, Zakhari S.Author information Division of Metabolism and Health Effects, National Institute on Alcohol Abuse and Alcoholism, Bethesda, Maryland.AbstractThe designation of acetaldehyde associated with the consumption of alcoholic beverages as "carcinogenic to humans" (Group 1) by the International Agency for Research on Cancer (IARC) has brought renewed attention to the biological effects of acetaldehyde, as the primary oxidative metabolite of alcohol. Therefore, the overall focus of this review is on acetaldehyde and its direct and indirect effects on the nuclear and mitochondrial genome. We first consider different acetaldehyde-DNA adducts, including a critical assessment of the evidence supporting a role for acetaldehyde-DNA adducts in alcohol related carcinogenesis, and consideration of additional data needed to make a conclusion. We also review recent data on the role of the Fanconi anemia DNA repair pathway in protecting against acetaldehyde genotoxicity and carcinogenicity, as well as teratogenicity. We also review evidence from the older literature that acetaldehyde may impact the genome indirectly, via the formation of adducts with proteins that are themselves critically involved in the maintenance of genetic and epigenetic stability. Finally, we note the lack of information regarding acetaldehyde effects on the mitochondrial genome, which is notable since aldehyde dehydrogenase 2 (ALDH2), the primary acetaldehyde metabolic enzyme, is located in the mitochondrion, and roughly 30% of East Asian individuals are deficient in ALDH2 activity due to a genetic variant in the ALDH2 gene. In summary, a comprehensive understanding of all of the mechanisms by which acetaldehyde impacts the function of the genome has implications not only for alcohol and cancer, but types of alcohol related pathologies as well. Environ. Mol. Mutagen. 55:77-91, 2014. © 2013 Wiley Periodicals, Inc.
- Environmental and molecular mutagenesis.Environ Mol Mutagen.2014 Mar;55(2):77-91. doi: 10.1002/em.21824. Epub 2013 Nov 27.
- The designation of acetaldehyde associated with the consumption of alcoholic beverages as "carcinogenic to humans" (Group 1) by the International Agency for Research on Cancer (IARC) has brought renewed attention to the biological effects of acetaldehyde, as the primary oxidative metabolite of alcoh
- PMID 24282063
- The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
- Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT.Author information Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK.AbstractBACKGROUND: Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cause has been defined.
- Journal of medical genetics.J Med Genet.2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27.
- BACKGROUND: Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal d
- PMID 24285859
Japanese Journal
- Side Effects of Antiepileptic Drugs on Renal Tubular Function in Childhood-onset Epilepsy
- ENDO Ayumi,FUJITA Yukihiko,FUCHIGAMI Tatsuo [他]
- 日大医学雑誌 71(4), 248-251, 2012-08
- NAID 40019415756
- Fanconi貧血の診断と治療
- 矢部 みはる
- 日本小児科学会雑誌 116(8), 1205-1212, 2012-08
- NAID 40019408104
Related Links
- ファンコニ症候群とは，近位尿細管再吸収における複数の欠陥により，糖尿，リン酸尿，汎アミノ酸尿，HCO 3 の喪失を引き起こす障害である。小児における症状は発育不全，成長遅滞，くる病である。成人における症状は骨軟化症と ...
- Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the ... Fanconi syndrome can be caused by faulty genes, or it ...
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★リンクテーブル★
| リンク元 | 「ファンコニ」「ファンコニー」「ファンコーニ」 |
| 拡張検索 | 「腎Fanconi症候群」「Fanconi anemia complementation group C protein」「Fanconi anemia complementation group E protein」「Fanconi-Bickel症候群」「Fanconi-Bickle症候群」 |