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41.
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
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Anas M. Alazami Amr Al-Saif Abdulaziz Al-Semari Saeed Bohlega Soumaya Zlitni Fatema Alzahrani Prashant Bavi Namik Kaya Dilek Colak Hanif Khalak Andy Baltus Borut Peterlin Sumita Danda Kailash P. Bhatia Susanne A. Schneider Nadia Sakati Christopher A. Walsh Futwan Al-Mohanna Brian Meyer Fowzan S. Alkuraya 《American journal of human genetics》2008,83(6):684-691
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle. 相似文献
42.
Dilek Gogas Yavuz Belgin Kü?ükkaya H. ?nder Ers?z A. Süha Yal?in Kaya Emerk Sema Akalin 《Experimental diabetes research》2002,3(2):145-151
Nonenzymatic glycation of tissue and plasma
proteins may stimulate the production of oxidant
and carbonyl stress in diabetes. The aim
of this study was to evaluate the effects of
aminoguanidine (AG) on lipid peroxidation,
protein oxidation and nitric oxide (NO) release
in diabetic rat kidneys. After induction of diabetes
with streptozotocin, female Wistar rats
were divided into 2 groups. Group DAG (n=9)
rats were given AG hydrogen carbonate (1 g/L)
in drinking water and group D (n=8) was diabetic
control rats given only tap water. Group
H (n=8) was followed as healthy controls. At
the end of an 8 week period, NO release, lipid
and protein oxidation were determined in kidney
tissues. NO release was significantly lower
in diabetic rats compared with healthy controls
(p<0.05). Lipid peroxidation was significantly
high in group D (3.9 ± 0.3 nmol MDA/g tissue)
compared with the group DAG (2.6 ± 0.1 nmol
MDA/g tissue, p<0.01) and group H (2.4 ± 0.2
nmol MDA/g tissue). Protein oxidation was
significantly higher in diabetics than healthy
controls (563.8 ± 23.9, 655.8 ± 7.2 , 431.5 ±
8.8 mmol carbonyl / g tissue for group DAG, D
and H, respectively, p< 0.05). A positive correlation
between albuminuria and thiobarbituric
acid reactive substance (TBARS) levels (r= 0.54,p<0.005) and carbonyl content (r=0.70,
p<0.0005) in kidney homogenate were
observed.
Although AG treatment had no effect on NO
release, it significantly decreased lipid peroxidation
in diabetic rat cortices. Consequently
increased lipid peroxidation -as well as- protein
oxidation could be involved in the pathogenesis
of diabetic albuminuria. 相似文献
43.
A C Alagón H S Guzmán B M Martin A N Ramírez E Carbone L D Possani 《Comparative biochemistry and physiology. B, Comparative biochemistry》1988,89(1):153-161
1. Several toxic polypeptides were found in the venom of the scorpion Centruroides limpidus limpidus. Comparative studies of the potency of the venom in different strains of mice were conducted. 2. A new type of toxin (component II.9), specific for crustaceans (crayfish and isopods), was isolated from this scorpion and was shown to have the following N-terminal amino acid sequence: Lys-Lys-Asp-Gly-Tyr-Leu-Val-Asn-Lys-Tyr-Thr-Gly-Cys-Lys-Val-Asn-Cys- Tyr-Lys-Leu-Gly-Glu-Asn-Lys-Phe-Cys-Asn-Arg-Glu-. 3. A polypeptide toxic to mice (component II.6) from this venom was shown to have the following N-terminal sequence: Lys-Glu-Gly-Tyr-Leu-Val-Asn-His-Ser-Thr-Gly-Cys-Lys-Tyr- Glu-Cys-Tyr-Lys-Leu-Gly-Asp-Asn-Asp-Tyr-Cys-Leu-Arg-Glu-Cys-Lys-. 4. In cultured chick dorsal root ganglion cells, 1 microM of toxin II.6 was shown to reduce the size of sodium currents and to slow-down their activation-inactivation kinetics. The toxin had also a depressive action on the classical Ca2+ current activated at high membrane potentials (greater than 0 mV). 相似文献
44.
45.
This plant tissue study of micropropagation identifies the selective medium saving for rapid propagation in cultivated Thermopsis turcica, an endangered germplasm of the family Fabaceae. The aim is to obtain the optimum growth medium of T. turcica by enabling the in vitro propagation of this endemic. In this study, the leaves and stems of T. turcica were cultured on a Murashige and Skoog’s medium supplemented with various concentrations (0.5, 1.0 and 2.0 mg L?1 1-Naphthaleneacetic acid) of auxin and (0.2 and 0.5 mg L?1 Zeatin) (1.0 and 2.0 mg L?1 Benzylaminopurine) of cytokinins. Previous research focused on the regeneration from the seed of T. turcica Eber population; we concentrated upon the regeneration of different plant parts (leaf and stem) of T. turcica Aksehir population. In addition, according to the literature on T. turcica that to date the effects of Zeatin on the regeneration has not been performed. The most promising regeneration and growth were obtained from leaf explants cultured on the media with 2.0 mg L?1 1-Naphthaleneacetic acid and 0.5 mg L?1Zeatin (93.3%). The regenerated plantles were rooted on the media containing 2.0 mg L?1 Indole-3-butyric acid. Rooted plantlets were transplanted into potting of sterilized soil. The present study reports on the sufficient in vitro regeneration protocol through organogenesis in T. turcica. The findings presented here have implications for in vitro protection and use of this endemic endangered species in further biotechnological research. 相似文献
46.
Nicola G. Ghazi Emad B. Abboud Sawsan R. Nowilaty Hisham Alkuraya Abdulrahman Alhommadi Huimin Cai Rui Hou Wen-Tao Deng Sanford L. Boye Abdulrahman Almaghamsi Fahad Al Saikhan Hassan Al-Dhibi David Birch Christopher Chung Dilek Colak Matthew M. LaVail Douglas Vollrath Kirsten Erger Wenqiu Wang Thomas Conlon Kang Zhang William Hauswirth Fowzan S. Alkuraya 《Human genetics》2016,135(3):327-343
47.
Adaptation to high temperature mitigates the impact of water deficit during combined heat and drought stress in C3 sunflower and C4 maize varieties with contrasting drought tolerance 总被引:1,自引:0,他引:1
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Dilek Killi Filippo Bussotti Antonio Raschi Matthew Haworth 《Physiologia plantarum》2017,159(2):130-147
Heat and drought stress frequently occur together, however, their impact on plant growth and photosynthesis (PN) is unclear. The frequency, duration and severity of heat and drought stress events are predicted to increase in the future, having severe implications for agricultural productivity and food security. To assess the impact on plant gas exchange, physiology and morphology we grew drought tolerant and sensitive varieties of C3 sunflower (Helianthus annuus) and C4 maize (Zea mays) under conditions of elevated temperature for 4 weeks prior to the imposition of water deficit. The negative impact of temperature on PN was most apparent in sunflower. The drought tolerant sunflower retained ribulose‐1,5‐bisphosphate carboxylase/oxygenase (RubisCO) activity under heat stress to a greater extent than its drought sensitive counterpart. Maize exhibited no varietal difference in response to increased temperature. In contrast to previous studies, where a sudden rise in temperature induced an increase in stomatal conductance (Gs), we observed no change or a reduction in Gs with elevated temperature, which alongside lower leaf area mitigated the impact of drought at the higher temperature. The drought tolerant sunflower and maize varieties exhibited greater investment in root‐systems, allowing greater uptake of the available soil water. Elevated temperatures associated with heat‐waves will have profound negative impacts on crop growth in both sunflower and maize, but the deleterious effect on PN was less apparent in the drought tolerant sunflower and both maize varieties. As C4 plants generally exhibit water use efficiency (WUE) and resistance to heat stress, selection on the basis of tolerance to heat and drought stress would be more beneficial to the yields of C3 crops cultivated in drought prone semi‐arid regions. 相似文献
48.
Ulrich Claussen Wanda Zevenboom Uwe Brockmann Dilek Topcu Peter Bot 《Hydrobiologia》2009,629(1):49-58
Eutrophication (nutrient enrichment and subsequent processes) and its adverse ecosystem effects have been discussed as main
issues over the last 20 years in international conferences and conventions for the protection of the marine environment such
as the North Sea Conferences and the 1992 OSPAR Convention (OSPAR; which combined and updated the 1972 Oslo Convention on
dumping waste at the sea and the 1974 Paris Convention on land-based sources of marine pollution). OSPAR committed itself
to reduce phosphorus and nitrogen inputs (in the order of 50% compared with 1985) into the marine areas and ‘to combat eutrophication
to achieve, by the year 2010, a healthy marine environment where eutrophication does not occur’. Within OSPAR, the Comprehensive
Procedure (COMPP) has been developed and used to assess the eutrophication status of the OSPAR maritime area in an harmonised
way. This is based on classification in terms of the following types of areas Non-Problem Areas (no effects), Potential Problem
Areas (not enough data to assess effects) and Problem Areas (effects due to elevated nutrients and/or due to transboundary
transport from adjacent areas). The COMPP consists of a set of harmonised assessment criteria with their area-specific assessment
levels and an integrated area classification approach. The criteria cover all aspects of nutrient enrichment (nutrient inputs,
concentrations and ratios) as well as possible direct effects (e.g. increased levels of nuisance and/or toxic phytoplankton
species, shifts and/or losses of submerged aquatic vegetation) and indirect effects (e.g. oxygen deficiency, changes and/or
death of benthos, death of fish, algal toxins). The COMPP also includes supporting environmental factors. It takes account
of synergies and harmonisation with the EC Water Framework Directive, and has formed a major basis for the EC eutrophication
guidance. Recently, additional components, such as total nitrogen, total phosphorus and transboundary transports have been
included in the assessment of, e.g. the German Bight. The second application of the COMPP resulting in an update of the eutrophication
status of the OSPAR maritime area will be finalised in 2008, and will include the agreed integrated set of Ecological Quality
Objectives (EcoQOs) with respect to eutrophication.
Guest editors: J. H. Andersen & D. J. Conley
Eutrophication in Coastal Ecosystems: Selected papers from the Second International Symposium on Research and Management of
Eutrophication in Coastal Ecosystems, 20–23 June 2006, Nyborg, Denmark 相似文献
49.
Dilek Telci Russell John Collighan Huveyda Basaga Martin Griffin 《The Journal of biological chemistry》2009,284(43):29547-29558
50.
zlem Alptekin S. Seyhan Tükel Deniz Yldrm Dilek Alagz 《Journal of Molecular Catalysis .B, Enzymatic》2009,58(1-4):124-131
Bovine liver catalase was covalently immobilized onto controlled pore glass (CPG) beads modified with 3-aminopropyltriethoxysilane (3-APTES) followed by treatment with glutaraldehyde. Coupling of catalase onto CPG was optimized to improve the efficiency of the overall immobilization procedure. The optimum coupling conditions: pore diameter of CPG, pH, buffer concentration, temperature, coupling time and initial catalase amount per grams of carrier were determined as 70 nm, 6.0, 75 mM, 5 °C, 7 h and 6 mg catalase, respectively. Catalytic efficiencies (kcat/Km) and thermal inactivation rate constants (ki) of ICPG1 were determined and compared with that of free catalase. Suitability of ICPG1 was also investigated by using it in batch and plug-flow type reactors. When the remaining activity of ICPG1 retained was about 50% of its initial activity the highest total productivity of ICPG1 was determined as 7.6 × 106 U g immobilized catalase−1 in plug-flow type reactor. However, the highest total productivity of ICPG1 was 6.2 × 105 U g immobilized catalase−1 in batch type reactor. ICPG1 may have great potentials as biocatalyst for the application in decomposition of hydrogen peroxide in plug-flow type reactor. 相似文献