نتایج جستجو برای: transversion

تعداد نتایج: 1000  

2009
Arumugam Chandrasekar Aikkal Riju Kandiyl Sithara Sahadevan Anoop Santhosh J Eapen

UNLABELLED Ginger (Zingiber officinale Rosc) (Family: Zingiberaceae) is a herbaceous perennial, the rhizomes of which are used as a spice. Ginger is a plant which is well known for its medicinal applications. Recently EST-derived SNPs are a free by-product of the currently expanding EST (Expressed Sequence Tag) databases. The development of high-throughput methods for the detection of SNPs (Sin...

Journal: :Blood 1997
C H Huang O O Blumenfeld M E Reid Y Chen G L Daniels E Smart

The Henshaw antigen (synonym: He or MNS6) is carried by an altered form of glycophorin B (GPB), but the molecular basis for its variable expression or quantitative polymorphism remains largely undefined. We report here the identification and analysis of a novel glycophorin He allele, GPHe(GL), which gives rise to the expression of two protein isoforms in the erythrocyte membrane. In addition to...

ژورنال: :پژوهش در پزشکی 0
مهدی منتظرحقیقی1، mahdi montazer haghighi سیدرضا محبی1، seyed reza mohebbi نرگس زالی1، zali narges مهسا مولایی1، mahsa molaei محمدرضا زالی1 mohammad reza zali

چکیده سابقه و هدف: در اکثر موارد hereditary non polyposis colorectal cancer (hnpcc) به عنوان یکی از انواع ارثی سرطان کولورکتال موتاسیون در یکی از ژن های مسوؤل ترمیم اتصالات نادرست در ژنوم با نام های msh2، mlh1، msh6 و pms2 قابل تشخیص است. در این مطالعه، میزان نقش موتاسیون های این ژن ها در ایجاد hnpcc در جمعیت ایرانی بررسی شد. روش بررسی: در 592 بیمار مبتلا به hnpcc بخش های کد کننده ژن ها با استف...

Journal: :Molecular biology and evolution 2004
Jianzhi Zhang

Positive Darwinian selection promotes fixations of advantageous mutations during gene evolution and is probably responsible for most adaptations. Detecting positive selection at the DNA sequence level is of substantial interest because such information provides significant insights into possible functional alterations during gene evolution as well as important nucleotide substitutions involved ...

Journal: :Molecular biology and evolution 2004
Yun-Huei Tzeng Runsun Pan Wen-Hsiung Li

Three frequently used methods for estimating the synonymous and nonsynonymous substitution rates (Ks and Ka) were evaluated and compared for their accuracies; these methods are denoted by LWL85, LPB93, and GY94, respectively. For this purpose, we used a codon-evolution model to obtain the expected Ka and Ks values for the above three methods and compared the values with those obtained by the th...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1995
L Laue W Y Chan A J Hsueh M Kudo S Y Hsu S M Wu L Blomberg G B Cutler

Genomic DNA from 32 unrelated families with male-limited precocious puberty was examined for the previously described Asp-578-->Gly, Met-571-->Ile, and Thr-577-->Ile mutations in transmembrane helix 6 of the human luteinizing hormone receptor (hLHR). Twenty-eight families had the inherited form of the disorder, and of these, 24 were found to have the Asp-578-->Gly mutation. Four additional muta...

2017
Kunihiko Sakumi Arindam Maitra Anchal Sharma Asgar Hussain Renu Kumari Rajesh Pandey Rakhshinda Rehman Bapu K. Desiraju Ulaganathan Mabalirajan Arijit Mukhopadhyay

Somatic variation in DNA can cause cells to deviate from the preordained genomic path in both disease and healthy conditions. Here, using exome sequencing of paired tissue samples, we show that the normal human brain harbors somatic single base variations measuring up to 0.48% of the total variations. Interestingly, about 64% of these somatic variations in the brain are expected to lead to non-...

Journal: :The Journal of clinical investigation 1998
J Pohlenz I M Rosenthal R E Weiss S M Jhiang C Burant S Refetoff

A 12-yr-old hypothyroid girl was diagnosed at birth as athyreotic because her thyroid gland could not be visualized by isotope scanning. Goiter development due to incomplete thyrotropin suppression, a thyroidal radioiodide uptake of < 1%, and a low saliva to plasma ratio of 2.5 suggested iodide (I-) transport defect. mRNA isolated from her thyroid gland and injected into Xenopus oocytes failed ...

Journal: :Cancer research 1992
C A Felix C C Kappel T Mitsudomi M M Nau M Tsokos G D Crouch P D Nisen N J Winick L J Helman

The p53 gene was examined in primary or metastatic tumors from six patients with rhabdomyosarcoma (RMS) and in five RMS cell lines by screening methods including single-strand conformation polymorphism analysis, the RNase protection assay, sequencing of complementary DNA subclones, and Southern blotting. Six original tumors were of embryonal histology, four alveolar, and one mixed. p53 mutation...

Journal: :Molecular biology and evolution 2002
Tal Dagan Yael Talmor Dan Graur

The ratio of radical to conservative amino acid replacements is frequently used to infer positive Darwinian selection. This method is based on the assumption that radical replacements are more likely than conservative replacements to improve the function of a protein. Therefore, if positive selection plays a major role in the evolution of a protein, one would expect the radical-conservative rat...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید