نتایج جستجو برای: کوآنزیم 10q
تعداد نتایج: 551 فیلتر نتایج به سال:
A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
BACKGROUND Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). MATERIALS AND METHODS We studied the relationship among these 7 glioma-risk SNPs and characteristics of tumors from 1374 p...
Several molecular markers drive diagnostic classification, prognostic stratification, and/or prediction of response to therapy in patients with gliomas. Among them, IDH gene mutations are valuable markers for defining subtypes and are strongly associated with epigenetic silencing of the methylguanine DNA methyltransferase (MGMT) gene. However, little is known about the percentage of MGMT-methyl...
BACKGROUND Gliomas are classified into pathologically defined subgroups. However, the tumors in the same entity could show varied 'clinical courses. Recently, various studies revealed that genetic analyses of gliomas can provide clinically relevant information. OBJECTIVE To investigate the correlation between genetic characterization and clinical information of adult supratentorial grade II-I...
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD. In addition, contraction of the D4Z4 repeat in FSHD patients is associated...
The histological subclassification of gliomas is increasingly assisted by the underlying molecular genetics which has major importance in guiding clinical management of the disease. However, the assessment of several molecular events for improving clinical care remains a challenge. Herein, we report on comparative genomic hybridization (CGH) and immunohistochemical (IHC) assessment of EGFR, PTE...
We conducted a population-based study on glioblastomas in the Canton of Zurich, Switzerland (population, 1.16 million) to determine the frequency of major genetic alterations and their effect on patient survival. Between 1980 and 1994, 715 glioblastomas were diagnosed. The incidence rate per 100,000 population/year, adjusted to the World Standard Population, was 3.32 in males and 2.24 in female...
We describe an 11 year old girl with a de novo unbalanced t(X;10) that resulted in a deletion of Xq26-->Xqter and a trisomy of 10q21-->10qter. Her clinical features were of distal trisomy 10q, but she lacked the cardiovascular and renal malformations observed in duplications of 10q24-->10qter and had only moderate mental retardation. X inactivation was assessed on peripheral blood lymphocytes b...
اولین مرحله تولید اسید چرب در موجود زنده ، کربوکسیله شدن مولکول استیل کوآنزیم a می باشد که این عمل تحت تاثیراستیل کوآنزیم a کربوکسیلاز صورت می پذیرد . بدین ترتیب که استیل کوآنزیم a کربوکسیلاز یک co2را بر روی استیل کوآنزیم a تثبیت و تولید مالونیل کوآنزیم a می کند که واسطه کلیدی در بیوسنتز اسیدهای چرب و متابولیت های ثانویه گوناگون است. ژن تک کپی پلاستیدی و سیتوسولی استیل کوآنزیم آ کربوکسیلاز، اول...
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