A hypermorphic mutation in the protein phosphatase 2C HAB1 strongly affects ABA signaling in Arabidopsis.

Protein phosphatases of the 2C family (PP2C) function in the regulation of several signaling pathways from prokaryotes to eukaryotes. In Arabidopsis thaliana, the HAB1 PP2C is a negative regulator of the stress hormone abscisic acid (ABA) signaling. Here, we show that plants expressing a mutant form of HAB1 in which Gly246 was mutated to Asp (G246D) display strong ABA insensitive phenotypes.

[Dysferlinopathy. Example of a new myopathy].

Over the past 10 years, the impact of modern microscopic pathology and molecular genetics on the knowledge of myopathies has been enormous. Dysferlinopathy is a good example. Dysferlin is a surface membrane protein without homology with known mammalian protein excepted otoferlin.

A novel messenger ribonucleic acid homologous to human MAGE-D is strongly expressed in rat Sertoli cells and weakly in Leydig cells and is regulated by follitropin, lutropin, and prolactin.

We have cloned a novel complementary DNA whose expression was decreased in rat Sertoli cell cultures after treatment with FSH. This complementary DNA encodes a protein of 570 amino acids and shares 92% homology with the human MAGE-D protein. In contrast to other MAGE genes (A, B, or C), we have shown that MAGE-D expression was ubiquitous in healthy rat tissues.

Improvement of hepatorenal syndrome by transjugular intrahepatic portosystemic shunt.

Hepatorenal syndrome (HRS) is a functional renal failure occurring in advanced liver cirrhosis with ascites. It is due to renal cortical vasoconstriction resulting from complex hemodynamic disturbances related to cirrhosis and portal hypertension. There is no consistently effective therapy except for liver transplantation.

EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments.

Proteins with seven transmembrane segments (7TM) define a superfamily of receptors (7TM receptors) sharing the same topology: an extracellular N-terminus, three extramembranous loops on either side of the plasma membrane, and a cytoplasmic C-terminal tail. Upon ligand binding, cytoplasmic portions of the activated receptor interact with heterotrimeric G-coupled proteins to induce various second messengers. A small group, recently recognized on the basis of homologous primary amino acid sequences, comprises receptors to hormones of the secretin/vasoactive intestinal peptide/glucagon family, parathyroid hormone and parathyroid hormone-related peptides, growth hormone-releasing factor, corticotropin-releasing factor, and calcitonin.

Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme as a case of horizontal gene transfer.

An important step ensuring the fidelity in protein biosynthesis is the aminoacylation of tRNAs by aminoacyl-tRNA synthetases. The accuracy of this process rests on a family of 20 enzymes, one for each amino acid. One exception is the formation of Gln-tRNA(Gln) that can be accomplished by two different pathways: aminoacylation of tRNA(Gln) with Gln by glutaminyl-tRNA synthetase (GlnRS; EC 6.

[Coronary angioplasty during the acute phase of myocardial infarction in the aged subject].

Myocardial infarction is a common and serious condition in patients over 70 years of age. The aim of this study was to assess the feasibility and efficacy of angioplasty without thrombolysis for revascularising an occluded artery in this age group. Between March 1986 and December 1989, 32 patients over 70 years of age (average 76 +/- 3 years) underwent angioplasty without thrombolysis in the acute phase of myocardial infarction.

[A therapeutic trial of mazindol versus placebo in Duchenne muscular dystrophy. A one-year follow-up study of 14 children].

A simple-blind therapeutic trial of mazindol (2 mg/d) versus placebo in 14 boys with Duchenne muscular dystrophy, 5 to 13 years old, for 12 months was conducted in order to analyse the efficacy of this drug on the natural history of the disease. Evaluation of muscle strength by manual testing, motor ability by functional testing and timed tests, weight, height, serum CK and pulmonary function were performed every two months. The differences in evolution between groups were significant only for weight and height.

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

Type VI collagen is a heterotrimer composed of three polypeptide chains, alpha 1(VI), alpha 2(VI), and alpha 3(VI). By immunological screening of an expression cDNA library, human cDNAs specific for each chain were isolated and characterized. Major mRNA species encoding these chains have a size of 4.

Studies on the human chromosome 3 centromere with a newly cloned alphoid DNA probe.

Starting from a chromosome-specific DNA library, we have isolated a human chromosome-specific satellite DNA sequence. This sequence of 635 base pairs (bp) consists of 3.7 alpha DNA monomers of 170-171 bp.

Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay.

A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1.

Differential diagnosis of xerostomia by quantitative salivary gland scintigraphy.

A new and rapid method of quantitative salivary gland scintigraphy has been developed. The uptake of pertechnetate in the glandular tissue and in a reference area in the neck are measured. The ratio between these measurements gives an index of salivary gland activity.

[Differential diagnosis of salivary disturbances by quantitative scintigraphy].

The scintigraphy of salivary glands with technetium-99m pertechnetate is predisposed to be an excellent test for evaluating salivary gland function. But the absence of a sufficiently precise and simple quantitative analysis procedure of the technetium uptake has reduced its clinical use. For this reason, the authors propose a new and quick method: the quantitative salivary gland scintigraphy.