fan : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 5 페이지: 1

Fanconi Anemia - 새창 Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Synonyms : Fanconi's Anemia, Anemia, Fanconi's, Anemias, Fanconi, Fanconi Anemias
Fanconi Anemia Complementation Group A Protein - 새창 A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
Synonyms : FANCA Protein, Fanconi Anemia Group A Complementing Protein, Fanconi Anemia Group A Protein
Fanconi Anemia Complementation Group C Protein - 새창 A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
Synonyms : FANCC Protein, Fanconi Anemia Group C Complementing Protein, Fanconi Anemia Group C Protein
Fanconi Anemia Complementation Group D2 Protein - 새창 A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ATAXIA TELANGIECTASIA MUTATED PROTEIN. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
Synonyms : FANCD2 Protein, Fanconi Anemia Group D2 Complementing Protein, Fanconi Anemia Group D2 Protein
Fanconi Anemia Complementation Group E Protein - 새창 A Fanconi anemia complementation group protein that interacts with FANCC PROTEIN and FANCD2 PROTEIN. It promotes the accumulation of FANCC protein in the CELL NUCLEUS.
Synonyms : FANCE Protein, Fanconi Anemia Group E Complementing Protein, Fanconi Anemia Group E Protein