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81.
Martínez C García-Martín E Alonso-Navarro H Jiménez-Jiménez FJ Benito-León J García-Ferrer I Vázquez-Torres P Puertas I Zurdo JM López-Alburquerque T Agúndez JA 《Neuromolecular medicine》2007,9(2):195-204
To identify low-penetrance genes related to sporadic essential tremor (ET) at the CYP2Clocus, located in chromosome 10 q23.33. Leukocytary DNA from 200 ET patients and a control group of 300 unrelated healthy
individuals with known CYP2C19 genotypes was studied for common CYP2C8 and CYP2C9 allelic variants by using amplification-restriction analyses. Patients with ET showed the following differences compared
with healthy subjects: a 1.6-fold reduction in the frequency for CYP2C8*3 (p=0.006), a 1.35-fold reduction of CYP2C9*2 (p=0.05) and a 1.52-fold reduction in the frequency for CYP2C9*3 (p=0.07). The frequency for patients with ET carrying at least one defective allele was 1.33-fold reduced as compared with healthy
subjects (p=0.002). In addition, a disruption of the CYP2C8*3/CYP2C9*2 linkage disequilibrium was observed in ET patients, with a 2.1-fold reduction in the percentage for carriers of the haplotype
CYP2C8*3 plus CYP2C9*2 in ET patients (p=0.0001). These findings were independent of gender, age, age of onset, or clinical symptoms. These results suggest that alterations
at the CYP2C gene locus are associated with the risk for ET. 相似文献
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Javier Del Angel-Caraza Inmaculada Diez-Prieto Carlos César Pérez-García Ma Belén García-Rodríguez 《Urological research》2010,38(3):201-204
Effective long-term management of urolithiasis depends on identification and manipulation of factors contributing to initial
stone formation; identification of these factors depends on accurate identification of the mineral composition of the urolith
involved. The purpose of this study was to determine the chemical composition of uroliths obtained from the low urinary tract
of dogs in Mexico City. One hundred and five cases of urolithiasis were studied in which stones were surgically obtained from
the low urinary tracts of dogs treated in different hospitals. The chemical composition of the uroliths was quantitatively
and qualitatively determined by stereoscopic microscopy, IR-spectroscopy, scanning electron microscopy and X-ray microanalysis.
Age of animals ranged from 4 months to 14 years, with a median of 5 years. Composition and distribution of the uroliths were
struvite 38.1%, calcium oxalate 26.7%, silica 13.3%, urate 7.6%, mixed 11.4%, compounds 1.9%, and cystine 1%. Most uroliths
were found in pure breed dogs (75.2%); 23 different breeds were identified, and more than half of the submissions were from
breeds of small size. In our study, the frequency of struvite, calcium oxalate, cystine, urates, mixed and compounds stones
are in agreement with papers that report on dog populations in America and Europe, but a higher frequency of silica uroliths
was observed in Mexico City dogs. 相似文献
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Mycosis fungoides shows concurrent deregulation of multiple genes involved in the TNF signaling pathway: an expression profile study 总被引:2,自引:2,他引:0
Tracey L Villuendas R Dotor AM Spiteri I Ortiz P Garcia JF Peralto JL Lawler M Piris MA 《Blood》2003,102(3):1042-1050
Mycosis fungoides (MF) is the most frequent type of cutaneous T-cell lymphoma, whose diagnosis and study is hampered by its morphologic similarity to inflammatory dermatoses (ID) and the low proportion of tumoral cells, which often account for only 5% to 10% of the total tissue cells. cDNA microarray studies using the CNIO OncoChip of 29 MF and 11 ID cases revealed a signature of 27 genes implicated in the tumorigenesis of MF, including tumor necrosis factor receptor (TNFR)-dependent apoptosis regulators, STAT4, CD40L, and other oncogenes and apoptosis inhibitors. Subsequently a 6-gene prediction model was constructed that is capable of distinguishing MF and ID cases with unprecedented accuracy. This model correctly predicted the class of 97% of cases in a blind test validation using 24 MF patients with low clinical stages. Unsupervised hierarchic clustering has revealed 2 major subclasses of MF, one of which tends to include more aggressive-type MF cases including tumoral MF forms. Furthermore, signatures associated with abnormal immunophenotype (11 genes) and tumor stage disease (5 genes) were identified. 相似文献
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