نتایج جستجو برای: silent mutation

تعداد نتایج: 308217  

2014
Keisuke Yoshida Riko Kitazawa Munenori Komoda Chihiro Ito Ryuma Haraguchi Sohei Kitazawa

We present a case of primary malignant lymphoma of the prostate in a 77-year-old Japanese man. Immunohistochemical examinations revealed the presence of a non-GCB subtype of DLBCL (CD10 (-), Bcl-6 (-), MUM1 (+)), and genetic analysis disclosed a lack of typical codon 206 or 265 missense mutation in MYD88, suggesting that the case was of type3 (non-GCB andnon-ABC), a subtype of DLBCL. Three cour...

Journal: :journal of dentistry, tehran university of medical sciences 0
p motahhary assistant professor, dental research center of tehran university of medical sciences, tehran, iran. f baghaie s mamishi b pourakbari s mahmoudi p amini shakib

head and neck squamous cell carcinoma, including oral squamous cell carcinoma (oscc) is the sixth most common cancer in the human population. despite significant efforts committed in treatment of oscc the overall survival rate of oscc has not improved significantly. activating mutations in the fibroblast growth factor receptor 3 (fgfr3) genes are responsible for some human cancers, including bl...

Journal: :Neuro-oncology 2022

Abstract Glioma accounts for 80% of all malignant brain tumours and is the most common adult primary tumour. Age an important factor affecting development cancer, as somatic mutations accumulate with age. Here, we aimed to analyse significance age-dependent non-silent in glioma prognosis. Histological tumour grade depends on age at diagnosis patients IDH1, TP53, ATRX, EGFR mutations. wild-type ...

Journal: :Journal of medical genetics 1974
R T Evans P J Magill

Results of cholinesterase, dibucaine and fluoride numbers, and scoline hydrolysis rates are presented in a family found to have normal, silent and abnormal genes for plasma cholinesterase. Five sibs, confirmed by red cell grouping and tissue typing, have been shown to possess a cholinesterase pattern which cannot be explained on the basis of accepted theories of inheritance. In view of this it ...

Journal: :AL-Rafidain Journal of Computer Sciences and Mathematics 2013

Journal: :Human mutation 2011
Michela Raponi Jana Kralovicova Ellen Copson Petr Divina Diana Eccles Peter Johnson Diana Baralle Igor Vorechovsky

Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency among disease-causing exonic substitutions is unknown. Here, we have tested missense and silent mutations deposited in the BRCA1 mutation databases of unclassified variants for their effects on exon inclusion. Analysis of 21 BRCA1 variants ...

1998
M. Rohrbach R. Kraemer S. Liechti-Gallati

BACKGROUND The gene of the beta subunit of the high affinity receptor for IgE (Fc epsilon RI-beta) encoded on chromosome 11q13 has recently been identified as a candidate gene for asthma and atopy. Two coding variations, E237G and I181L have been described as being associated with asthma and atopy. Our aim was to investigate a Swiss population of atopic and asthmatic children for variations in ...

Journal: :Jurnal medik veteriner 2023

The Leptin gene is the that produces leptin hormone, which released from adipose tissue and can increase productivity of animals. This study aimed to identify polymorphic nucleotides, changes in amino acid components, species goats based on GenBank DNA sequence data. A total five goat sequences were extracted NCBI was aligned with Bioedit locate SNPs changes. tree cultivars grown using Clustal ...

Journal: :The Journal of clinical endocrinology and metabolism 2008
Henri J L M Timmers Karel Pacak Thanh T Huynh Mones Abu-Asab Maria Tsokos Maria J Merino Bora E Baysal Karen T Adams Graeme Eisenhofer

CONTEXT Patients with adrenal and extra-adrenal abdominal paraganglioma (PGL) almost invariably have increased plasma and urine concentrations of metanephrines, the O-methylated metabolites of catecholamines. We report four cases of biochemically silent abdominal PGL, in which metanephrines were normal despite extensive disease. OBJECTIVE Our objective was to identify the mechanism underlying...

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