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排序方式: 共有423条查询结果,搜索用时 15 毫秒
1.
Salas-Prato Milagros Tanguay Jean-Francois Lefebvre Yves Wojciechowicz Don Liem H. Heng Barnes David W. Ouellette Ginette Muller-Eberhard Ursula 《In vitro cellular & developmental biology. Plant》1988,24(5):470-470
In Vitro Cellular &; Developmental Biology - Plant - 相似文献
2.
Peter Hechtman Bernard Boulay Marc De Braekeleer Eve Andermann Serge Melançon Jean Larochelle Claude Prevost Feige Kaplan 《Human genetics》1992,90(4):402-406
Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a GA transition at the +1 position of intron 7, abolishes the donor splice site. Cultured human fibroblasts from a compound heterozygote for this transition (and for a deletion mutation) produce no detectable HEXA mRNA. The intron 7+1 mutation occurs in the base adjacent to the site of the adult-onset TSD mutation (G805A). In both mutations a restriction site for the endonuclease EcoRII is abolished. Unambiguous diagnosis, therefore, requires allele-specific oligonucleotide hybridization to distinguish between these two mutant alleles. The intron 7+1 mutation has been detected in three unrelated families. Obligate heterozygotes for the intron 7+1 mutation were born in the Saguenay-Lac-St-Jean region of Quebec. The most recent ancestors common to obligate carriers of this mutation were from the Charlevoix region of the province of Quebec. This mutation thus has a different geographic centre of diffusion and is probably less common than the exon 1 deletion TSD mutation in French Canadians. Neither mutation has been detected in France, the ancestral homeland of French Canada. 相似文献
3.
Since 1978 there have been dramatic advances in the understanding of the pathophysiologic features of unstable angina pectoris and in the availability of new therapies of proven efficacy. Coronary artery spasm has been shown to be an important mechanism of acute myocardial ischemia in patients with unstable angina, and coronary thrombosis has been established as an early event in the development of acute myocardial infarction and, possibly, sudden death. Intravenous nitrates and oral calcium antagonists have been made available and are now widely used. Acetylsalicylic acid has been shown to be of benefit. Improved techniques of myocardial preservation and the introduction of percutaneous transluminal coronary angioplasty have modified the surgical management of coronary artery disease. 相似文献
4.
5.
The effects of deregulation of NR gene expression on growth and nitrogen metabolism of Nicotiana plumbaginifolia plants 总被引:1,自引:0,他引:1
6.
Stanislas Tomavo Jean-Francois Dubremetz Ralph T. Schwarz 《Biology of the cell / under the auspices of the European Cell Biology Organization》1993,78(3):155-162
In this study we describe the biochemical features of the Toxoplasma gondii tachyzoite surface glycoprotein, gp23, demonstrating that it is attached to the parasite membrane by a glycosyl-phosphatidyl inositol anchor. Gp23 was metabolically labeled with tritiated palmitate, myristate, ethanolamine, inositol, glucosamine, mannose and galactose, as expected for a GPI-anchor structure. Gp23 was released from the surface of living parasites after treatment with phosphatidyl inositol-specific phospholipase C (PI-PLC) and the resulting water-soluble protein was immunoprecipitated with a monoclonal antibody specific for gp23. The GPIcore glycan was generated after aqueous-HF dephosphorylation followed by nitrous acid deamination and its carbohydrate structure was analyzed using selective exo- and endoglycosidase treatments. Finally, the phosphatidylinositol moiety of gp23 was characterized using PI-PLC and phospholipase A2 (PLA2) digestions. Our cumulative data suggest that gp23 of T gondii tachyzoites contains a modified GPI-backbone similar to the mammalian Thy-1 anchor, consisting of a conserved core structure (ethanolaminePO4-6-Manαl-2-Manαl-6-Manαl-4-GIcNαl-6-PI) bearing β-linked N-acetylgalactosamine residue(s). 相似文献
7.
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. 总被引:1,自引:0,他引:1 下载免费PDF全文
C Morin G Mitchell J Larochelle M Lambert H Ogier B H Robinson M De Braekeleer 《American journal of human genetics》1993,53(2):488-496
Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec, particularly in the Saguenay-Lac-Saint-Jean (SLSJ) region. The segregation analysis was consistent with an autosomal recessive mode of inheritance. The incidence was estimated at 1/2,063 live births between 1979 and 1990, and the carrier rate was estimated at 1/23 inhabitants in SLSJ. In SLSJ, the places of origin of the COX-deficient children and their parents did not show a clustered nonuniform distribution. The genealogical reconstruction of 54 obligate carriers identified 26 ancestors common to all of them. Twenty-two were 17th-century Europeans, suggesting that the COX-deficient gene was introduced in the French-Canadian population by early settlers. These results support the hypothesis of a founder effect for COX deficiency in northeastern Quebec. Clinical findings are reported for 15 of these COX-deficient patients, age 6 mo to 11 years. Moderate developmental delay, hypotonia, ataxia, strabismus, and mild facial dysmorphism were frequent. Eleven children died in episodes of fulminant metabolic acidosis. The patients had elevated blood and cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, and normal blood pH. Leigh disease and microvesicular steatosis of the liver were present in all affected patients for whom postmortem examination was performed. This biochemically uniform group of patients showed a wide range of clinical severity. 相似文献
8.
K Paradis A Weber E G Seidman J Larochelle L Garel C Lenaerts C C Roy 《American journal of human genetics》1990,47(2):338-342
Sixteen tyrosinemic patients were evaluated in our institution for a possible liver transplantation. All patients showed biochemical and/or radiological evidence of liver dysfunction. Renal involvement was found to be more abnormal than expected. Seven patients have been transplanted, with two patients receiving a combined liver-kidney transplant. Hepatocarcinoma was detected in two of eight patients in whom the whole liver was examined. Six (37.5%) of the initial 16 patients have died since evaluation, one of the six dying after combined liver-kidney transplantation. Posttransplantation survival was 86%, with normal liver function, normal growth, and no recurrence of neurological crises on a normal diet. 相似文献
9.
A population of Laminaria longicruris de la Pylaie was followed for a year at Bic Island, Quebec, Canada where nutrient levels in the seawater were elevated throughout the year. Tagged kelp were measured each month for growth and analyzed for alginic acid, laminaran, mannitol, carbon, nitrogen, and nitrate. Maximum growth (3.5 cm · d?1) was observed in June, and minimal growth (0.18 cm · d?1) from December to February, when ice cover limited light levels. No reserves of carbon or nitrate were formed. Laminaran levels remained below 2.7% dry weight while tissue nitrate did not exceed 0.75 μmol · g?1 dry weight. Total carbon produced per plant was 40 g C · yr?1. Nutrient availability enables the kelp to take advantage of summer light and temperature conditions to grow rapidly. 相似文献
10.