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排序方式: 共有875条查询结果,搜索用时 15 毫秒
1.
Cyclic AMP increases the release of parathyroid hormone-related protein from a lung-cancer cell line
Ren Rizzoli Michel Lucien Aubert Andr Pascal Sappino Jean-Philippe Bonjour 《International journal of cancer. Journal international du cancer》1994,56(3):422-426
Parathyroid hormone-related protein (PTHrP) plays an important role in the pathogenesis of malignant hypercalcemia by stimulating bone resorption and/or renal tubular reabsorption of calcium. In cultured cancer cells, its production can be influenced by various factors or ions, but the regulation of its production is still poorly understood. We investigated the effects of stimulators of cAMP synthesis on PTHrP release by a human lung squamous-carcinoma cell line (BEN). In supervised cells grown on microcarrier beads, PTHrP production was significantly increased after incubation with calcitonin for only 20 min. The release of immunoreactive and bioactive PTHrP was increased by incubating the cells with forskolin, 3-isobutyl-I-methylxanthine or dibutyryl cAMP even in the presence of the protein-synthesis inhibitor cycloheximide for 6 hr. The calcitonin-mediated stimulation was not accompanied by. concomitant changes in PTHrP mRNA. The microfilament-disrupter cytocha-lasin D was shown to enhance the basal and calcitonin-induced production of PTHrP. These results indicate that stimulators of cAMP synthesis enhanced PTHrP release by BEN cells. 相似文献
2.
Lorraine N Clark Eneli Haamer Helen Mejia-Santana Juliette Harris Suzanne Lesage Alexandra Durr Sabine Janin Bs Katja Hedrich Elan D Louis Lucien J Cote Howard Andrews Stanley Fahn Cheryl Waters Blair Ford Steven Frucht William Scott Christine Klein Alexis Brice Hanno Roomere Ruth Ottman Karen Marder 《Movement disorders》2007,22(7):932-937
Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives. 相似文献
3.
Summary Shortly after subcutaneous or intraperitoneal injection of nontoxic quantities of trypan blue into laying Japanese quails, red fluorescent yolk granules appear in the peripheral ooplasm of their oocytes at the end of the lampbrush stage or subsequently. Later a red fluorescence can be observed in the apical cytoplasm of the granulosa cells. The results obtained by this method confirm our previous results (Callebaut 1974) obtained by autoradiography after 3H-leucine administration and furnish interesting additional data. The trypan blue-induced fluorescence method gives a good indication of the permeability of the oocytal cortex and its derivative the germinal disc. The avian yolk which is, or has been peripherally assembled (primordial, true white and yellow yolk) can be characteristically labelled by the administration of trypan blue. The injection of higher, still nontoxic quantities of trypan blue has a prolonged retarding effect and permits the marking of a broader part of the germinal disc or eventually of the blastoderm which develops from it. 相似文献
4.
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene 总被引:2,自引:0,他引:2
Feldmann D Denoyelle F Loundon N Weil D Garabedian EN Couderc R Joannard A Schmerber S Delobel B Leman J Journel H Catros H Ferrec C Drouin-Garraud V Obstoy MF Moati L Petit C Marlin S 《European journal of human genetics : EJHG》2004,12(4):279-284
Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controversial allele variant M34T has been hypothesized to cause autosomal dominant or recessive nonsyndromic hearing impairment and some in vitro data has been consistent with this hypothesis. In this report, we present the clinical and genotypic study of 11 families (seven familial forms of nonsyndromic sensorineural hearing loss (NSSNHL) and four sporadic cases) in which the M34T GJB2 variant has been identified. The M34T mutation did not segregate with the deafness in six of the seven familial forms of NSSNH. Eight persons with normal audiogram presented a heterozygous M34T variation and five normal hearing individuals were composite heterozygous for M34T and another GJB2 mutation. Four normal hearing individuals with a documented audiogram were M34T/35delG and one was M34T/(GJB6-D13S1830)del. Screening a French control population of 116 subjects we have found an M34T allele frequency of 1.72%. This percentage was not significatively different from the prevalence of the M34T allele in the deaf population, which was 2.12%. All these data suggest that the M34T variant is not clinically significant in human and is a frequent polymorphism in France. 相似文献
5.
Alain Verloes Paul Jamblin Lucien Koulischer Jean-Pierre Bourguignon 《Clinical genetics》1996,49(1):2-5
We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive. 相似文献
6.
Alain Verloes Guy Bricteux Lucien Koulischer 《American journal of medical genetics. Part A》1993,46(4):394-397
We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental ratardation. Three convincing cases of “Aminopterin Syndrome Sine Aminopterin” have been reported (the fourth case possibly having the Juberg–Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed. © 1993 Wiley-Liss, Inc. 相似文献
7.
8.
Nadine Gerin-Portier Jean Bourgeois Lucien Brasseur 《Pflügers Archiv : European journal of physiology》1970,314(4):263-273
Summary The differences inP
O
2readings between gas and blood were studied with a Clark-type electrode in the range of 38.5 to 713 mm HgP
O
2.The tonometered blood samples were taken in two different ways. The results showed that the gas-blood ratior
b(equilibrating gasP
O
2reading/equilibrated bloodP
O
2reading) depended not only on the sampling method but also on theP
O
2range: it varied from 1.005 to 1.032 for aP
O
2of 96.5 mm Hg, and from 1.040 to 1.081 for aP
O
2of 713 mm Hg according to the sampling procedure.A theoretical analysis demonstrated that the variation ofr
bwith the bloodP
O
2can be attributed to the influence of the degree of oxygen saturation of the hemoglobin on theP
O
2gradient existing in the blood diffusion boundary layer adhering to the electrode membrane.This work was supported by grants from the High Authority of the European Coal and Steel Community and from the Fonds de la Recherche Scientifique Médicale, Belgium. 相似文献
9.
Alain Verloes Yves Gillerot Jean-Paul Langhendries Jean-Pierre Fryns Lucien Koulischer 《American journal of medical genetics. Part A》1992,43(4):669-677
We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic postaxial polydactyly. Twenty-seven previous cases of congenital hypothalamic embryonic tumours with associated congenital defects are reviewed. A classification in isolated, associated, and syndromal forms is proposed. The difficulties encountered in differential diagnosis between the syndromal form (mainly represented by the Pallister-Hall syndrome) and related diseases as Smith-Lemli-Opitz type II, holoprosencephaly-polydactyly, orofaciodigital type VI and hydrolethalus syndromes are outlined. Two pathogenic mechanisms are discussed: a classical pleiotropic model and single sequence model. The latter is sufficient to delineate syndromal hypothalamic hamartoblastoma. With the former, syndromal hypothalamic hamartoblastoma cannot be clearly recognized in the absence of a CNS tumour, a child with syndromal hypothalamic hamartoblastoma cannot be reliably diagnosed as Pallister-Hall rather than another MCA syndrome, and, ultimately, the existence of Pallister-Hall syndrome could be questioned, as it could only be the extreme expression of one or several other syndromes. As this hypothesis cannot be proven or disproven at this point, the authors suggest creating the concept of multiplex phenotype. “Cerebro-Acro-Visceral Early lethality multiplex syndrome” is suggested to encompass all the ambiguous cases. Within this complex, an operative classification key is proposed. © 1992 Wiley-Liss, Inc. 相似文献
10.
Lucien J Shimada M Watzka S Ogiwara M Brockhausen I Sandhu J Coles JG 《Xenotransplantation》2000,7(1):21-30
Abstract: Discordant xenotransplantation is complicated by delayed xenograft rejection (DXR). Previous studies have demonstrated that anti‐apoptotic genes are protective against DXR. This study examines the hypothesis that apoptosis plays a role in human anti‐xenograft responses. C57BL/6 mice and NOD SCID mice were given a single intravenous injection of either a lethal dose (LD, survival < 30 min) or a sublethal dose (SLD) of human serum, and isolated pig and mouse rod‐shaped cardiomyocytes were exposed to human serum in vitro. In situ detection of apoptotic cells in mouse hearts was assessed using a terminal deoxynucleotidyl transferase‐mediated dUTP nicked‐end labeling assay. Mice transfused with human serum had approximately a 10‐fold increased percentage of apoptotic cells after SLD 18 h post‐injection compared with animals given saline, and a fourfold increase over LD. Administration of cobra venom factor (CVF) decomplemented SLD 18 h did not significantly ( P > 0.05) alter the percentage apoptosis. The addition of 20 mM Gal‐α‐1,3‐Gal to SLD 18 h significantly ( P < 0.05) reduced percentage apoptosis to levels comparable to saline treated control animals. In vitro using mouse and pig cardiomyocytes demonstrated parallel results as in vivo experiments.
Human serum induces apoptosis of cardiomyocytes in immunocompetent and immunoincompetent mice in vivo, as well as mouse and pig cardiomyocytes in vitro. Further, this apoptotic response can be inhibited by the addition of Gal‐α‐1,3‐Gal without affecting the capacity of the serum to cause HAR. These results demonstrate that a putative human serum factor induces a delayed apoptotic injury of xenograft tissues, and supports the hypothesis that apoptosis may be an important mediator of DXR. 相似文献
Human serum induces apoptosis of cardiomyocytes in immunocompetent and immunoincompetent mice in vivo, as well as mouse and pig cardiomyocytes in vitro. Further, this apoptotic response can be inhibited by the addition of Gal‐α‐1,3‐Gal without affecting the capacity of the serum to cause HAR. These results demonstrate that a putative human serum factor induces a delayed apoptotic injury of xenograft tissues, and supports the hypothesis that apoptosis may be an important mediator of DXR. 相似文献