نتایج جستجو برای: dna mutational analysis

تعداد نتایج: 3221390  

Journal: :Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016
A Crescenzi P Trimboli D C Modica C Taffon L Guidobaldi S Taccogna A Rainer M Trombetta E Papini G Zelano

In the last decade, several molecular markers have been proposed to improve the diagnosis of thyroid nodules. Among these, mutations in the telomerase reverse transcriptase (TERT) promoter have been correlated to malignant tumors, characterized by highest recurrence and decreased patients' survival. This suggests an important role of TERT mutational analysis in the clinical diagnosis and manage...

Journal: :Arthritis Research & Therapy 2005
Alberto Falchetti Marco Di Stefano Francesca Marini Francesca Del Monte Alessia Gozzini Laura Masi Annalisa Tanini Antonietta Amedei Annamaria Carossino Giancarlo Isaia Maria Luisa Brandi

Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account for both sporadic and familial forms of Paget's disease of bone (PDB). We originally described a methionine-->valine substitution at codon 404 (M404V) of exon 8, in the ubiquitin protein-binding domain of p62/SQSTM1 gene in an Italian PDB patient. The collection of data from the patient's pedigree provided evidence for a familial for...

Journal: :Journal of Investigative Dermatology 2022

Melanoma incidence and survival are age-dependent, with older patients having both higher rates worse outcomes. Here, we seek to examine age-dependent differences in mutational profiles of cutaneous melanoma, which may impact melanoma prognosis treatment-related Mutational 2263 were extracted from the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Excha...

2017
Tao Jiang Xuefei Li Jianfei Wang Chunxia Su Wenbo Han Chao Zhao Fengying Wu Guanghui Gao Wei Li Xiaoxia Chen Jiayu Li Fei Zhou Jing Zhao Weijing Cai Henghui Zhang Bo Du Jun Zhang Shengxiang Ren Caicun Zhou Hui Yu Fred R. Hirsch

Rationale To investigate whether the mutational landscape of circulating cell-free DNA (cfDNA) could predict and dynamically monitor the response to first-line platinum-based chemotherapy in patients with advanced non-small-cell lung cancer (NSCLC). Methods Eligible patients were included and blood samples were collected from a phase III trial. Both cfDNA fragments and fragmented genomic DNA we...

2007
Venkat R. Katkoori Xu Jia Chakrapani Chatla Sanjay Kumar Selvarangan Ponnazhagan Tom Callens Ludwine Messiaen William E. Grizzle Upender Manne

1. Abstract 2. Introduction 3. Materials and methods 3.1. Patients 3.1.1. Prospective CRC samples 3.1.2. Retrospective CRC samples 3.1.3. Patient demographics, clinical and follow-up information 3.1.4. Pathologic features 3.2. Mutational analysis of the RPH3AL gene 3.2.1. RNA extraction, PCR analysis, and DNA sequencing of RPH3AL gene 3.3. Expression of mRNA of RPH3AL 3.3.1. Quantitative real-t...

2017
Xuefei Li Caicun Zhou

Somatic mutations in the gene encoding epidermal growth factor receptor (EGFR) play an important role in determining targeted treatment modalities in non-small cell lung cancer (NSCLC). The EGFR T790M mutation emerges in approximately 50% of cases who acquire resistance to tyrosine kinase inhibitors. Detecting EGFR T790M mutation in tumor tissue is challenging due to heterogeneity of the tumor,...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه رازی - دانشکده علوم 1391

we have two part in this thesis, at first: the interaction of native calf thymus dna (ct-dna) with two anthraquinones including quinizarin (1,4- dihydroxy anthraquinone) and danthron (1,8- dihydroxy anthraquinone) in a mixture of 0.04 m brittone-robinson buffer and 50% of ethanol were studied at physiological ph by uv-vis absorption, florescence, circular dichroism spectroscopic methods, viscos...

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