排序方式: 共有47条查询结果,搜索用时 66 毫秒
11.
In calf rib cartilage, about one half of total hyaluronate is soluble with guanidinium hydrochloride, the other half only after collagenase treatment. Evidence is presented for its pericellular and intracellular distribution. 相似文献
12.
X-linked inheritance of Fanconi anemia complementation group B 总被引:20,自引:0,他引:20
Meetei AR Levitus M Xue Y Medhurst AL Zwaan M Ling C Rooimans MA Bier P Hoatlin M Pals G de Winter JP Wang W Joenje H 《Nature genetics》2004,36(11):1219-1224
Fanconi anemia is an autosomal recessive syndrome characterized by diverse clinical symptoms, hypersensitivity to DNA crosslinking agents, chromosomal instability and susceptibility to cancer. Fanconi anemia has at least 11 complementation groups (A, B, C, D1, D2, E, F, G, I, J, L); the genes mutated in 8 of these have been identified. The gene BRCA2 was suggested to underlie complementation group B, but the evidence is inconclusive. Here we show that the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2, a key event in the DNA-damage response pathway associated with Fanconi anemia and BRCA. Unexpectedly, the gene encoding this protein, FANCB, is localized at Xp22.31 and subject to X-chromosome inactivation. X-linked inheritance has important consequences for genetic counseling of families with Fanconi anemia belonging to complementation group B. Its presence as a single active copy and essentiality for a functional Fanconi anemia-BRCA pathway make FANCB a potentially vulnerable component of the cellular machinery that maintains genomic integrity. 相似文献
13.
14.
15.
Pansuriya TC van Eijk R d'Adamo P van Ruler MA Kuijjer ML Oosting J Cleton-Jansen AM van Oosterwijk JG Verbeke SL Meijer D van Wezel T Nord KH Sangiorgi L Toker B Liegl-Atzwanger B San-Julian M Sciot R Limaye N Kindblom LG Daugaard S Godfraind C Boon LM Vikkula M Kurek KC Szuhai K French PJ Bovée JV 《Nature genetics》2011,43(12):1256-1261
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. 相似文献
16.
17.
Zusammenfassung Die i.p. Injektion von Endotoxin führt bei der Ratte zum vermehrten Auftreten von Mitosen in Mesothelzellen. Vereinzelt kommt es zur Verbreiterung der Interzellularräume, äusserst selten treten Siegelringzellen auf. Es wird vermutet, dass eine geringe endotoxinbedingte Zellschädigung den Stimulus zur Mesothelzellproliferation darstellt. 相似文献
18.
19.
20.