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1.
C. M. Corcoran V. Calabrò G. Tamagnini M. Town B. Haidar T. J. Vulliamy P. J. Mason L. Luzzatto 《Human genetics》1992,88(6):688-690
Summary As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemical properties of red-cell G6PD from this subject were similar to those of the common variant G6PD Mediterranean, the corresponding mutation (563 CT) was not present. Instead, polymerase chain reaction (PCR) amplification and sequencing of the entire gene detected a CT transition at nucleotide 592 in exon VI, changing an arginine residue to a cysteine residue only 10 amino acids downstream from the Mediterranean mutation. Single-strand conformation polymorphism analysis of a PCR-amplified DNA fragment spanning exons VI and VII of the G6PD gene has detected the same mutation, confirmed by sequencing, in a G6PD-deficient patient from Southern Italy. We name this new variant G6PD Coimbra. 相似文献
2.
3.
N. E. Haidar M. Carrara C. Andriamampandry J. N. Kanfer L. Freysz H. Dreyfus R. Massarelli 《Neurochemical research》1994,19(1):9-13
Human neuroblastoma cholinergic LA-N-2 cells were used as an experimental model to test the possibility that the methylation of phosphoethanolamine (PEtn) to phosphocholine (PCho) and free choline (Cho) (Andriamampandry et al. 1989) could contribute to acetylcholine (AcCho) synthesis. LA-N-2 cells were incubated with [3H]Cho for 90 min and 22.7% of the radioactivity was present in PCho, 18.5% in free Cho and 4.8% as AcCho. The ratio of Cho/AcCho, however, was of about 1 after 16 hours of incubation. The incorporation of 10M [3H]ethanolamine (Etn) into MeEtn, PMeEtn, PMe2Etn and their corresponding phospholipids was reduced in cells incubated in medium containing 7.2M choline as compared to cells incubated in medium devoid of choline indicating that the lack of Cho from the incubation medium stimulated the conversion of PEtn to Cho water soluble derivatives. Incubation of LA-N-2 cells with [3H]Etn led to the labelling of [3H]AcCho. Cultures incubated in parallel with [3H]Cho showed that roughly 10% of [3H]AcCho obtained after 16 hrs of incubation with the Cho label derived from [3H]Etn. The synthesis of Cho and AcCho from Etn may be enhanced after cellular differentiation induced by the growth of the cells in the presence of retinoic acid (RA). The results indicate that the methylation of [3H]Etn and/or of [3H]PEtn may be used by cholinergic neurons as precursor for AcCho.Abbreviations Etn
ethanolamine
- MeEtn
monomethylethanolamine
- Me2Etn
dimethylethanolamine
- P-
phosphoryl
- AcCho
acetylcholine
- Ptd
phosphatidyl
- LPtd
lysophosphatidyl
- RA
retinoic acid 相似文献
4.
The phylogeny of Greya Busck (Lepidoptera: Prodoxidae) was inferred from
nucleotide sequence variation across a 765-bp region in the cytochrome
oxidase I and II genes of the mitochondrial genome. Most parsimonious
relationships of 25 haplotypes from 16 Greya species and two outgroup
genera (Tetragma and Prodoxus) showed substantial congruence with the
species relationships indicated by morphological variation. Differences
between mitochondrial and morphological trees were found primarily in the
positions of two species, G. variabilis and G. pectinifera, and in the
branching order of the three major species groups in the genus. Conflicts
between the data sets were examined by comparing levels of homoplasy in
characters supporting alternative hypotheses. The phylogeny of Greya
species suggests that host-plant association at the family level and larval
feeding mode are conservative characters. Transition/transversion ratios
estimated by reconstruction of nucleotide substitutions on the phylogeny
had a range of 2.0-9.3, when different subsets of the phylogeny were used.
The decline of this ratio with the increase in maximum sequence divergence
among taxa indicates that transitions are masked by transversions along
deeper internodes or long branches of the phylogeny. Among transitions,
substitutions of A-->G and T-->C outnumbered their reciprocal
substitutions by 2-6 times, presumably because of the approximately 4:1
(77%) A+T-bias in nucleotide base composition. Of all transversions,
73%-80% were A<-->T substitutions, 85% of which occurred at third
positions of codons; these estimates did not decrease with an increase in
maximum sequence divergence of taxa included in the analysis. The high
frequency of A<-->T substitutions is either a reflection or an
explanation of the 92% A+T bias at third codon positions.
相似文献
5.
6.
A wide-ranging examination of plastid (pt)DNA sequence homologies within
higher plant nuclear genomes (promiscuous DNA) was undertaken. Digestion
with methylation-sensitive restriction enzymes and Southern analysis was
used to distinguish plastid and nuclear DNA in order to assess the extent
of variability of promiscuous sequences within and between plant species.
Some species, such as Gossypium hirsutum (cotton), Nicotiana tabacum
(tobacco), and Chenopodium quinoa, showed homogenity of these sequences,
while intraspecific sequence variation was observed among different
cultivars of Pisum sativum (pea), Hordeum vulgare (barley), and Triticum
aestivum (wheat). Hypervariability of plastid sequence homologies was
identified in the nuclear genomes of Spinacea oleracea (spinach) and Beta
vulgaris (beet), in which individual plants were shown to possess a unique
spectrum of nuclear sequences with ptDNA homology. This hypervariability
apparently extended to somatic variation in B. vulgaris. No sequences with
ptDNA homology were identified by this method in the nuclear genome of
Arabidopsis thaliana.
相似文献
7.
Liang Chengcheng Raza Sayed Haidar Abbas Naqvi Muhammad Abuzar Raza Feng Yanrong Khan Rajwali Mohammedsaleh Zuhair M. Shater Abdullah F. Al-ahmadi Bassam M. Saleh Fayez M. Bilal Muhammad Ahsan Zan Linsen 《Biochemical genetics》2022,60(2):543-557
Biochemical Genetics - The Long non-coding RNA (lncRNA) expression profile data of ten samples including human Mesenchymal Stem Cell (MSC) adipogenic differentiation 0, 3, and 6 days from... 相似文献
8.
Vaisi-Raygani A Rahimi Z Tavilani H Vaisi-Raygani H Kiani A Aminian M Shakiba E Shakiba Y Pourmotabbed T 《Molecular biology reports》2012,39(3):2723-2731
We have previously shown that angiotensin-converting enzyme (ACE) gene D allele is an independent risk factor for early onset
coronary artery disease (CAD). Little is known about the concomitant presence of the ACE gene D allele and paraoxonase (PON1)
codon 192 arginine (Arg) on the severity of CAD. Regarding the high rate of CAD among Iranians the aim of present study was
to examine the hypothesis of synergistic effects between ACE-D and PON1-Arg alleles on predisposition and the severity of
CAD in our population. The PON1 192 and ACE insertion/deletion (I/D) genotypes were detected by PCR-RFLP and PCR, respectively
in 414 individuals undergoing their first coronary angiography. Patients were placed into one of two groups: CAD and control
without CAD or diabetes. We mentioned the synergistic effects of both genes and not ACE gene alone is a risk factor for CAD.
We found that PON1 Arg 192 and ACE D allele act synergistically to increase the risk of CAD (OR 1.3, P = 0.044). Our results showed a significant correlation between the possession of both PON1 192 Arg and the ACE D allele and
the extent of CAD in CAD patients and CAD subjects without diabetes, represented by the increased frequency of three-vessel
disease with OR 2.7, P = 0.046; χ2 = 4, P = 0.046 and OR 2.4, P = 0.051; χ2 = 3.8, P = 0.051, respectively. We found that PON1 Arg 192 and ACE D alleles act synergistically to increase the risk of CAD in CAD
patients and CAD subjects without diabetes from west of Iran, who have high frequency of three-vessel disease. Our data suggest
that PON1 192 Arg and the ACE D allele in combination with each other can be important independent risk factor for severity
of CAD in patients carrying both PON1 192 Arg and the ACE D allele in a west population of Iran. 相似文献
9.
Alves ES Haidar AA Quadros CD Carvalho DS Morgan D Rocha MS Curi R Carpinelli AR Hirata AE 《Regulatory peptides》2012,175(1-3):1-6
Angiotensin II (AII), the active component of the renin angiotensin system (RAS), plays a vital role in the regulation of physiological processes of the cardiovascular system, but also has autocrine and paracrine actions in various tissues and organs. Many studies have shown the existence of RAS in the pancreas of humans and rodents. The aim of this study was to evaluate potential signaling pathways mediated by AII in isolated pancreatic islets of rats. Phosphorylation of MAPKs (ERK1/2, JNK and p38MAPK), and the interaction between proteins JAK/STAT were evaluated. AII increased JAK2/STAT1 (42%) and JAK2/STAT3 (100%) interaction without altering the total content of JAK2. Analyzing the activation of MAPKs (ERK1/2, JNK and p38MAPK) in isolated pancreatic islets from rats we observed that AII rapidly (3 min) promoted a significant increase in the phosphorylation degree of these proteins after incubation with the hormone. Curiously JNK protein phosphorylation was inhibited by DPI, suggesting the involvement of NAD(P)H oxidase in the activation of protein. 相似文献
10.