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871.
Sox9 induces testis development in XX transgenic mice. 总被引:18,自引:0,他引:18
Mutations in SOX9 are associated with male-to-female sex reversal in humans. To analyze Sox9 function during sex determination, we ectopically expressed this gene in XX gonads. Here, we show that Sox9 is sufficient to induce testis formation in mice, indicating that it can substitute for the sex-determining gene Sry. 相似文献
872.
873.
L Feliubadaló M Font J Purroy F Rousaud X Estivill V Nunes E Golomb M Centola I Aksentijevich Y Kreiss B Goldman M Pras D L Kastner E Pras P Gasparini L Bisceglia E Beccia M Gallucci L de Sanctis A Ponzone G F Rizzoni L Zelante M T Bassi A L George M Manzoni A De Grandi M Riboni J K Endsley A Ballabio G Borsani N Reig E Fernández R Estévez M Pineda D Torrents M Camps J Lloberas A Zorzano M Palacín 《Nature genetics》1999,23(1):52-57
874.
A I den Hollander J B ten Brink Y J de Kok S van Soest L I van den Born M A van Driel D J van de Pol A M Payne S S Bhattacharya U Kellner C B Hoyng A Westerveld H G Brunner E M Bleeker-Wagemakers A F Deutman J R Heckenlively F P Cremers A A Bergen 《Nature genetics》1999,23(2):217-221
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we cloned cDNAs specifically or preferentially expressed in the human retina and the retinal pigment epithelium (RPE) through a novel suppression subtractive hybridization (SSH) method. One of these cDNAs (RET3C11) mapped to chromosome 1q31-q32.1, a region harbouring a gene involved in a severe form of autosomal recessive RP characterized by a typical preservation of the para-arteriolar RPE (RP12; ref. 3). The full-length cDNA encodes an extracellular protein with 19 EGF-like domains, 3 laminin A G-like domains and a C-type lectin domain. This protein is homologous to the Drosophila melanogaster protein crumbs (CRB), and denoted CRB1 (crumbs homologue 1). In ten unrelated RP patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in CRB1. The similarity to CRB suggests a role for CRB1 in cell-cell interaction and possibly in the maintenance of cell polarity in the retina. The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration. 相似文献
875.
Direct multicriteria clustering algorithms 总被引:1,自引:0,他引:1
In a multicriteria clustering problem, optimization over more than one criterion is required. The problem can be treated in
different ways: by reduction to a clustering problem with the single criterion obtained as a combination of the given criteria;
by constrained clustering algorithms where a selected critetion is considered as the clustering criterion and all others determine
the constraints; or by direct algorithms. In this paper two types of direct algorithms for solving multicriteria clustering
problem are proposed: the modified relocation algorithm, and the modified agglomerative algorithm. Different elaborations
of these two types of algorithms are discussed and compared. Finally, two applications of the proposed algorithms are presented.
Elaborated version of the talks presented at the First Conference of the International Federation of Classification Societies,
Aachen, 1987, at the International Conference on Social Science Methodology, Dubrovnik, 1988, and at the Second Conference
of the International Federation of Classification Societies, Charlottesville, 1989.
This work was supported in part by the Research Council of Slovenia. 相似文献
876.
D. Krüger R. Grossklaus M. Herold S. Lorenz L. Klingebiel 《Cellular and molecular life sciences : CMLS》1992,48(8):733-740
Using data obtained with a dye marker and the gavage technique, the kinetics of gastrointestinal transit of different loads of sugar substitutes (maltitol, sorbitol) and sugar (sucrose) in the rat were analysed using a linear multicompartmental model over a range from the realistic to the non-physiologic high, of carbohydrate intake levels and using only a few experimental time points. The model gave detailed insight into intestinal propulsion and gastrocecal transit time. Rate constants of transport between the compartments investigated were determined; they showed characteristics which could be related to the substance and the dosage administered. Analyses of the gastrointestinal content and calculations of the intestinal net water movement showed that the digestibility and absorption of the disaccharide sugar alcohol, maltitol, in the small gut depended inversely on the dose ingested. For all substances tested, caloric availability in the small intestine was calculated. At a physiological low level of maltitol intake, the results also indicated an insignificant calorie-saving effect in comparison to sucrose, an effect based mainly on the slow absorption rate of the maltitol cleavage product sorbitol. 相似文献
877.
T. Aoyagi T. Wada F. Kojima M. Nagai S. Harada T. Takeuchi K. Isse M. Ogura M. Hamamoto K. Tanaka T. Nagao 《Cellular and molecular life sciences : CMLS》1992,48(7):656-659
Previously we reported that there is a kallikrein deficiency in the cerebral tissue of patients with Alzheimer-type dementia. The present study was performed to investigate protease changes in the serum of these patients. The results showed that the kallikrein activity was normal, but that the activities of plasmin and urokinase were significantly low. The present findings indicate a derangement in the clotting and fibrinolytic systems in Alzheimer patients. 相似文献
878.
D. P. Keogh M. J. Mitchell J. R. Crooks S. L. Smith 《Cellular and molecular life sciences : CMLS》1992,48(1):39-41
The adenylate cyclase activator forskolin and its pharmacologically inactive derivative 1,9-dideoxyforskolin were found to inhibit in a dose-dependent fashion the ecdysone 20-monooxygenase activity associated with wandering stage larvae ofDrosophila melanogaster and fat body and midgut from last instar larvae of the tobacco hornworm,Manduca sexta. The concentrations of these labdane diterpenes required to elicit a 50% inhibition of the cytochrome P-450 dependent steroid hydroxylase activity in the insect tissues ranged from approximately 5×10–6 to 5×10–4 M. 相似文献
879.
Pteroyl polyglutamate hydrolase (folyl conjugase), which hydrolyses the dietary polyglutamyl folates into simple forms prior to absorption, has been shown to be induced in rat pancreas in response to dietary polyglutamyl folates but not by ingestion of synthetic unconjugated folates. Folate absorption, as measured by the rise in serum folate levels after ingestion, of dietary conjugated folates is impaired in pancreatectomised animals whereas absorption of synthetic simple folate is not. A severe build-up of folyl conjugase is observed in the lumen of control but not in pancreatectomised animals after dietary folate ingestion. These results taken together would suggest that dietary folates are hydrolysed to monoglutamyl forms suitable for absorption in the lumen; the hydrolysis is catalysed by a luminal folyl conjugase of pancreatic origin induced by dietary conjugated folates. 相似文献
880.
The aim of this study was to investigate the putative role of GABAB receptors in the development of amygdala kindling in rats. The effects of the GABAB blocker CGP 35348 and the GABAB agonist baclofen on the progressive development of behavioural seizure symptoms (stages 1-5 classified by Racine) and duration of after-discharges (AD) were studied. CGP 35348 at a dose of 300 mg/kg i.p., which blocks central GABAB receptors, moderately but consistently accelerated the development of behavioural seizure symptoms. CGP 35348 had no marked effect on the duration of ADs corresponding to the different seizure stages. L-baclofen (6 mg/kg i.p.) had a dual effect on kindling development. It retarded the development of the behavioural symptoms, but increased the duration of AD. In conclusion, the results suggest that synaptically-released GABA activated GABAB receptors and thereby exerted a depressant effect on kindling development. 相似文献