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排序方式: 共有200条查询结果,搜索用时 15 毫秒
1.
2.
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B 总被引:5,自引:0,他引:5
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S H Chen C R Scott J Schoof E W Lovrien K Kurachi 《American journal of human genetics》1989,44(4):567-569
Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucleotide sequence 30875 was found which resulted in a nonsense mutation (TGA) and terminated the protein synthesis of factor IX at amino acid residue 252. The single-base change occurred as a classic CG dinucleotide alteration to TG (or CA), a common mechanism for point mutations in mammals. 相似文献
3.
In an 18 year old Japanese larch stand, leaf characteristics such as area, weight, gross photosynthetic rate and respiration
rate were studied in order to obtain basic information on estimating canopy photosynthesis and respiration. The leaf growth
courses in area and weight from bud opening were approximated by simple logistic curves. The growth coefficient for the area
growth curve was 0.155–0.175 day−1, while that for the weight growth was 0.112–0.117 day−1. The larger growth coefficient in area growth caused the seasonal change in specific leaf area (SLA) that increased after bud opening to its peak early in May at almost 300 cm2 g−1 and then decreased until it leveled off at about 140 cm2g−1. The change inSLA indicates the possibility that leaf area growth precedes leaf thickness growth. The relationship between the coefficientsa andb of the gross photosynthetic rate (p)-light flux density (1) curve (p=bI/(1+aI)) and the mean relative light flux density (I′/I
0) at each canopy height were approximated by hyperbolic formulae:a=A/(I′/I
0)+B andb=C/(I′/I
0)+D. Leaf respiration rate was also increased with increasingI′/I
0. Seasonal change of gross photosynthetic rate and leaf respiration rate were related to mean air temperature through linear
regression on semilogarithmic co-ordinates. 相似文献
4.
A patient with moderate to severe hemophilia B has been found to have a large insertion within his factor IX gene. The site of insertion is located in a DNA segment of approximately 0.8 kb between exon IV and an EcoRI site within intron D. The size of the DNA insertion is approximately 6 kb, and it contains at least two TaqI sites, two EcoRI sites, and one HindIII site. The insert probably originates from outside the FIX gene and does not represent an internal duplication. We propose that this abnormal FIX gene be called FIX El Salvador in recognition of the birthplace of the patient. 相似文献
5.
Isolation of a human cDNA for alpha 2-thiol proteinase inhibitor and its identity with low molecular weight kininogen 总被引:13,自引:0,他引:13
A lambda gt11 cDNA library containing DNA inserts prepared from human liver mRNA has been screened with an antibody to human alpha 2-thiol proteinase inhibitor that was isolated from fresh plasma. Eighteen positive clones were isolated from one million phage, and each was plaque purified. The cDNA insert of one of these phage was sequenced and shown to code for alpha 2-thiol proteinase inhibitor as identified by a partial amino acid sequence of the light chain of alpha 2-thiol proteinase inhibitor. This cDNA insert contained 1529 base pairs coding for the complete alpha 2-thiol proteinase inhibitor. It included 45 base pairs of 5' noncoding sequence, 1281 base pairs that code for pre alpha 2-thiol proteinase inhibitor, a stop codon, 160 base pairs of 3' noncoding sequence, and 40 base pairs of poly(A) tail. The noncoding sequence on the 3' end contained a potential recognition site (AATAAA) for processing and polyadenylation of precursor messenger RNA. The amino acid sequence of alpha 2-thiol proteinase inhibitor deduced from the cDNA showed a striking similarity (overall homology at 74%) to that of bovine low molecular weight (LMW) kininogen, including two internally repeated sequences and a nonapeptide sequence of bradykinin. These data clearly indicated that alpha 2-thiol proteinase inhibitor and LMW kininogen are identical. This was further supported by immunological cross-reactivity between alpha 2-thiol proteinase inhibitor and LMW kininogen.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
6.
Molecular cloning and characterization of the platelet-activating factor receptor gene expressed in the human heart. 总被引:4,自引:0,他引:4
T Sugimoto H Tsuchimochi C G McGregor H Mutoh T Shimizu Y Kurachi 《Biochemical and biophysical research communications》1992,189(2):617-624
PAF decreases cardiac contractility and blood pressure. To characterize the cardiac PAF receptor, we screened a human ventricular cDNA library in a low stringency condition, using a PCR product derived from guinea pig lung PAF receptor as a probe. Four clones were obtained and named HV1-4. In Xenopus oocytes injected with cRNA derived from HV3 or 4 but not from HV1 or 2, PAF elicited a Ca(2+)-activated Cl- current. HV3 and HV4 were duplicate clones, encoding a 342 amino-acid polypeptide which was identical to that of the human leukocyte PAF receptor. However, a portion of the 5' untranslated region of HV3 (or 4) was different from that of the leukocyte receptor cDNA. Northern blotting of human ventricles and atria using the HV3 insert showed a single band of approximately 4 kb. These results suggest a tissue-specific translational mechanism responsible for regulation of the expression of the PAF receptor mRNA in these tissues. 相似文献
7.
Seasonal changes and yearly gross canopy photosynthetic production were estimated for an 18 year old Japanese larch (Larix leptolepis) forest between 1982 and 1984. A canopy photosynthesis model was applied for the estimation, which took into account the
effect of light interception by the non-photosynthetic organs. Seasonal changes in photosynthetic ability, amount of canopy
leaf area and light environment within the canopy were also taken into account. Amount of leaf area was estimated by the leaf
area growth of a single leaf. The change of light environment within the canopy during the growing season was estimated with
a light penetration model and the leaf increment within the canopy. Canopy respiration and surplus production were calculated
as seasonal and yearly values for the three years studied. Mean yearly estimates of canopy photosynthesis, canopy respiration
and surplus production were 37, 13 and 23 tCO2 ha−1 year−1, respectively. Vertical trend, seasonal changes and yearly values of the estimates were analyzed in relation to environmental
and stand factors. 相似文献
8.
The molecular-weight dependence of the rate-enhancing effect of heparin on the inhibition of thrombin, factor Xa, factor IXa, factor XIa, factor XIIa and kallikrein by antithrombin. 总被引:10,自引:7,他引:3
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Heparin fractions of different molecular weight and with high affinity for antithrombin were studied with respect to their ability to potentiate the inhibition of activated clotting factors by antithrombin. Inhibition of thrombin, Factor IXa and Factor XIa showed similarities in the dependence on the molecular weight of heparin and was found to decrease with decreasing molecular weight. Inactivation of Factor Xa, Factor XIIa and kallikrein was, however, less dependent on the size of the polysaccharide and, to a great extent, was potentiated even by low-molecular-weight heparin fractions that had virtually no effect on the inhibition of thrombin, Factor IXa and Factor XIa. 相似文献
9.
On the mechanism of basal and agonist-induced activation of the G protein-gated muscarinic K+ channel in atrial myocytes of guinea pig heart
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H Ito T Sugimoto I Kobayashi K Takahashi T Katada M Ui Y Kurachi 《The Journal of general physiology》1991,98(3):517-533
Using the patch clamp technique, we examined the agonist-free, basal interaction between the muscarinic acetylcholine (m-ACh) receptor and the G protein (GK)-gated muscarinic K+ channel (IK.ACh), and the modification of this interaction by ACh binding to the receptor in single atrial myocytes of guinea pig heart. In the whole cell clamp mode, guanosine-5'-O-(3-thiotriphosphate) (GTP-gamma S) gradually increased the IK.ACh current in the absence of agonists (e.g., acetylcholine). This increase was inhibited in cells that were pretreated with islet-activating protein (IAP, pertussis toxin) or N-ethylmaleimide (NEM). In inside-out patches, even in the absence of agonists, intracellular GTP caused openings of IK.ACh in a concentration-dependent manner in approximately 80% of the patches. Channel activation by GTP in the absence of agonist was much less than that caused by GTP-gamma S. The agonist-independent, GTP-induced activation of IK.ACh was inhibited by the A promoter of IAP (with nicotinamide adenine dinucleotide) or NEM. As the ACh concentration was increased, the GTP-induced maximal open probability of IK.ACh was increased and the GTP concentration for the half-maximal activation of IK.ACh was decreased. Intracellular GDP inhibited the GTP-induced openings of IK.ACh in a concentration-dependent fashion. The half-inhibition of IK.ACh openings occurred at a much lower concentration of GDP in the absence of agonists than in the presence of ACh. From these results, we concluded (a) that the interaction between the m-ACh receptor and GK is essential for basal stimulation of IK.ACh, and (b) that ACh binding to the receptor accelerates the turnover of GK and increases GK's affinity to GTP analogues over GDP. 相似文献
10.
T Shimada E Hamada A Terano T Sugimoto Y Kurachi 《Biochemical and biophysical research communications》1991,179(1):327-332
ACh causes a long-lasting inhibition of STOCs via G proteins in intestinal smooth muscle cells. We examined the effects of isoproterenol (Iso) on the ACh-induced inhibition of STOCs in isolated ileal smooth muscle cells using the G omega-seal whole cell clamp technique. In control, ACh (1 microM) completely suppressed STOCs, which did not desensitize over a period lasting 20 minutes. When Iso (10 microM) was added to the bath in the presence of ACh, the ACh-induced inhibition of STOCs was gradually removed. This effect of Iso was prevented by propranolol (10 microM). Application of Db-cAMP (500 microM) mimicked the Iso effects. Intracellulary applied GTP-gamma S (100 microM) gradually suppressed STOCs in the absence of ACh, which could not be removed by either Iso or Db-cAMP. These results suggest that beta-adrenergic stimulation causes a removal of the muscarinic inhibition of STOCs via a cAMP-dependent process. 相似文献