نتایج جستجو برای: 9 bp deletion

تعداد نتایج: 604247  

Journal: :Nucleic acids research 1986
J Nalbantoglu M Meuth

In a collection of spontaneous mutants of Chinese hamster ovary cells selected for deficiency in adenine phosphoribosyl transferase (aprt) activity, one was detected having not only a deletion of aprt coding sequences but also an apparent amplification of remaining sequences. The HindIII fragment bearing the novel joint was cloned and sequenced revealing a complex gene rearrangement. A deletion...

Objective The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study investigates BMPR1B, BMP15 and GDF9 genes mutations in prolific ewes of Iranian ...

2012
Manja Meggendorfer Andreas Roller Torsten Haferlach Christiane Eder Frank Dicker Vera Grossmann Alexander Kohlmann Tamara Alpermann Kenichi Yoshida Seishi Ogawa H. Phillip Koeffler Wolfgang Kern Claudia Haferlach Susanne Schnittger

We analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2V617F, KRAS, NRAS, RUNX1, and TET2 mutations were investigated in subcohorts. Mutations in SRSF2 (SRSF2mut) were detected in 47% (129 of 275) of all cases. In detail, 120 cases had a missense mutation at Pro95, leading to a change to Pro95His, P...

Journal: :Blood 2012
Manja Meggendorfer Andreas Roller Torsten Haferlach Christiane Eder Frank Dicker Vera Grossmann Alexander Kohlmann Tamara Alpermann Kenichi Yoshida Seishi Ogawa H Phillip Koeffler Wolfgang Kern Claudia Haferlach Susanne Schnittger

We analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2V617F, KRAS, NRAS, RUNX1, and TET2 mutations were investigated in subcohorts. Mutations in SRSF2 (SRSF2mut) were detected in 47% (129 of 275) of all cases. In detail, 120 cases had a missense mutation at Pro95, leading to a change to Pro95His, P...

Journal: :The Indian journal of medical research 2004
A Dmitriev A Suvorov A D Shen Y H Yang

BACKGROUND & OBJECTIVES The goal of the present study was to improve and simplify the diagnosis of Streptococcus agalactiae (group B Streptococcus, GBS) infection for routine clinical practice. METHODS A total of 71 clinical samples were tested by microbiologic culture, counter immunoelectrophoresis (CIE) and PCR described in the literature. Southern hybridization was accomplished with the En...

Journal: :Endocrinology 2001
M Marttila N Hautala P Paradis M Toth O Vuolteenaho M Nemer H Ruskoaho

To identify the mechanisms that couple hemodynamic stress to alterations in cardiac gene expression, DNA constructs containing the rat B-type natriuretic peptide (BNP) promoter were injected into the myocardium of rats, which underwent bilateral nephrectomy or were sham-operated. Ventricular BNP mRNA levels were induced about 4-fold; and the BNP reporter construct containing the proximal 2200 b...

Journal: :The Journal of biological chemistry 2002
Anand Desai Dorothy Turetsky Kuzhalini Vasudevan Andres Buonanno

The postnatal appearance and up-regulation of the NR2A subunit of the N-methyl-d-aspartate receptor contributes to the functional heterogeneity of the receptor during development. To elucidate the molecular mechanisms that regulate the neural and developmental specific expression of NR2A, an upstream approximately 9-kb region of the gene harboring the promoter was isolated and characterized in ...

Journal: :Journal of virology 1999
K A Delviks V K Pathak

Deletion of direct repeats in retroviral genomes provides an in vivo system for analysis of reverse transcriptase (RT) template switching. The effect of distance between direct repeats on the rate of deletion was determined for 16 murine leukemia virus (MLV)-based vectors containing a 701-bp direct repeat of overlapping fragments of the herpes simplex virus thymidine kinase gene (HTK). The dire...

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