نتایج جستجو برای: silent mutation

تعداد نتایج: 308217  

Journal: :BMC Blood Disorders 2002
Fabrizio Mastropietro Guido Modiano Maria Pia Cappabianca Enrica Foglietta Carmelo D'Asero Mauro Mezzabotta Donatella Ponzini Laura Maffei Antonio Amato Maria Lerone Paola Grisanti Paola Di Biagio Silvana Rinaldi Ida Bianco

BACKGROUND: The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype, determining the Hb F production. We have tried to find out if there are relations between total Hb and Hb F, between erythropoietin (Epo) and Hb ...

Journal: :hepatitis monthly 0
yuzhu yin department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china; department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, p. o. box: 510630, guangzhou, china. tel: +86-18620174975, fax: +86-2085253040 peizhen zhang department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china zhangmin tan department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china jin zhou department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china lingling wu department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china hongying hou department of obstetrics and gynecology, third affiliated hospital, sun yat-sen university, guangzhou, china

conclusions hbv in children due to vaccination failure was resulted from vertical transmission. hbv pre-s/s gene mutations were prevalent and could occur before or after vaccination. therefore, simply analyzing mutation frequency of hbv gene was not of value. to advance blocking hbv vertical transmission, future studies should focus on specific mutation sites, potentially associated with vaccin...

Journal: :Pakistan Armed Forces Medical Journal 2022

Objective: To study the frequency of Cap+1 mutation and associated hematological parameters in suspected beta thalassemia patients.
 Study Design: Analytical cross-sectional study.
 Place Duration Study: Department Hematology, Armed Forces Institute Pathology (AFIP) Rawalpindi from Aug 2017 to 2018.
 Methodology: 960 patients have were inducted into study. After detailed history ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
I D'Souza P Poorkaj M Hong D Nochlin V M Lee T D Bird G D Schellenberg

Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17) is caused by mutations in the tau gene, and the signature lesions of FTDP-17 are filamentous tau inclusions. Tau mutations may be pathogenic either by altering protein function or gene regulation. Here we show that missense, silent, and intronic tau mutations can increase or decrease splicing of tau exon 10 (E10) by acting ...

Journal: :Oncology reports 2012
Dimitra Koumaki George Kostakis Vasiliki Koumaki Nikolaos Papadogeorgakis Michael Makris Alexandros Katoulis Smaragda Kamakari George Koutsodontis Christos Perisanidis Vaia Lambadiari Evanthia Chrysomali Nikolaos Stavrianeas Constantinos Alexandridis Dimitrios Rigopoulos

Oral squamous cell carcinoma (OSCC) is the sixth most common cancer in the world. The phosphatidylinositol 3 kinase (PI3K) signalling pathway has been reported to play an important role in OSCC. Since we have previously detected absence of hotspot PIK3CA gene mutations in the Greek population, we hypothesized that BRAF or HRAS may be activated as ...

Journal: :Genetics 1983
H Gruenspan N R Eaton

Mating type in haploid cells of the yeast Saccharomyces cerevisiae is determined by a pair of alleles MATa and MAT alpha. Under various conditions haploid mating types can be interconverted. It has been proposed that transpositions of silent cassettes of mating-type information from HML OR HMR to MAT are the source of mating type conversions. A mutation described in this work, designated AON1, ...

Journal: :Molecular biology and evolution 1997
V L Bauer C F Aquadro

To determine whether male- or female-biased mutation rates have affected the molecular evolution of Drosophila melanogaster and D. simulans, we calculated the male-to-female ratio of germline cell divisions ([symbol: see text]) from germline generation data and the male-to-female ratio of mutation rate ([symbol: see text]) by comparing chromosomal levels of nucleotide divergence. We found that ...

ژورنال: Hormozgan Medical Journal 2013
Iranmanesh, F. , R. Syadi, A. ,

Introduction: The silent brain lesions detected by MRI were fairly common not only in first-ever stroke but also in normal elderly subjects. Some recent studies show the possible role of silent sub-cortical brain infarction in ischemic stroke. The aim of this study was to evaluate the frequency of silent sub-cortical brain infarction in acute first-ever ischemic stroke. Methods: In this descrip...

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