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排序方式: 共有214条查询结果,搜索用时 15 毫秒
1.
Ureaplasma urealyticum (four serotypes and two clinical isolates) were metabolically labeled with radioactive methionine to a high specific activity. Labeling allowed the study of the mechanism of adherence to human erythrocytes. The adherence mechanism was complex and partially mediated by proteinaceous surface components. The binding sites on the erythrocytes were partially sensitive to neuraminidase treatment, and adherence was inhibited by glycophorin and dextran sulfate, indicating recognition of sialyl residues and sulfated compounds. 相似文献
2.
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders 总被引:3,自引:2,他引:3
Neri C; Albanese V; Lebre AS; Holbert S; Saada C; Bougueleret L; Meier-Ewert S; Le Gall I; Millasseau P; Bui H; Giudicelli C; Massart C; Guillou S; Gervy P; Poullier E; Rigault P; Weissenbach J; Lennon G; Chumakov I; Dausset J; Lehrach H; Cohen D; Cann HM 《Human molecular genetics》1996,5(7):1001-1009
3.
Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia? 总被引:2,自引:0,他引:2
Moriniere S Saada C Holbert S Sidransky E Galat A Ginns E Rapoport JL Neri C 《Molecular psychiatry》1999,4(1):58-63
Polyglutamine expansion (PGE) encoded by a CAG repeat underlies eight inherited neurodegenerative diseases, among which is Huntington's disease. CAG expansion has also been reported in schizophrenia, suggesting a role for PGE. To investigate the potential role of PGE as a candidate for schizophrenia, we searched for PGE in nuclear families comprising a patient affected by childhood onset schizophrenia (COS, a rare and severe form of the disease) as a variation of the candidate gene approach for identifying susceptibility genes. We tested lymphoblastoid cell lines from COS patients (n = 32) by Western blot analysis with 1C2, a monoclonal antibody that specifically recognizes long polyglutamines. Eight of 11 unrelated black American COS patients showed a 60-kDa (approximately) band indicative of PGE. A strong 60-kDa band (suggestive of a large PGE) was detected in two of the eight positive patients. A weaker 60-kDa band (suggestive of a smaller and non pathogenic PGE) was detected in some unaffected parents or sibs of these two COS patients, and in six other black American COS patients. The strong and weak PGE signals were found to correspond to two different proteins. Unrelated black Americans unaffected by COS (n = 38) were negative for the strong 60-kDa PGE signal. Healthy white Americans (n = 53) were negative for both the strong and weak 60-kDa PGE signals. Two-dimensional gel analysis suggested that the strong PGE signal corresponds to an acidic (pI 4 approximately) protein and resulted in a more precise estimation (52-57 kDa) of its relative mass. This protein appeared to be not represented in Genbank, as suggested by the exclusion of several candidate CAG repeats. Our data suggest that this acidic protein might be a candidate for COS. 相似文献
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5.
Zehavi Yoav Saada Ann Jabaly-Habib Haneen Dessau Moshe Shaag Avraham Elpeleg Orly Spiegel Ronen 《Metabolic brain disease》2021,36(4):581-588
Metabolic Brain Disease - Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic... 相似文献
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Claudia Pasqualini Veronique Minard‐Colin Veronique Saada Laurence Lamant Georges Delsol Catherine Patte Marie‐Cécile Le Deley Dominique Valteau‐Couanet Laurence Brugières 《British journal of haematology》2014,165(1):117-125
Haemophagocytic lymphohistiocytosis (HLH) has been rarely described in children treated for an anaplastic large‐cell lymphoma (ALCL). We evaluated the incidence, the clinical and histological characteristics and the prognosis of HLH associated‐ALCL. The medical, biological, cytological and histological data of patients treated for ALK‐positive ALCL in the paediatric department of a single institution between 1975 and 2008 were analysed and assessed for HLH according to diagnosis criteria of the Histiocyte Society. Data concerning a series of 50 consecutive children with ALCL were reviewed. HLH‐associated ALCL was observed in 12% of the patients. Lung involvement was significantly more frequent in HLH‐associated ALCL patients than in the group without HLH (P = 0·004), as well as central nervous system (CNS) and bone marrow involvement (P = 0·001 and P = 0·007 respectively). The histological subtype in children with HLH‐associated ALCL did not differ from that of the group without HLH. There was no significant difference between the two groups in 5‐year EFS and OS (P = 0·91 and P > 0·99 respectively). In conclusion, HLH is not rare in paediatric ALCL. Despite a high incidence of visceral, CNS and bone marrow involvement, HLH does not seem to exert a significant impact on outcome in children treated for ALCL. 相似文献
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Oxidative stress, apoptosis, and fibrosis may play a major role in the development of radiation‐induced liver damage. Betaine, a native compound widely present in beetroot, was reported to possess hepato‐protective properties. The objective of this study was to investigate the influence of betaine on radiation‐induced liver damage. Animals were exposed to 9 Gy applied in 3 doses of 3 Gy/wk. Betaine (400 mg/kg/d), was orally supplemented to rats after the first radiation dose, and daily during the irradiation period. Animals were sacrificed 1 day after the last dose of radiation. The results showed that irradiation has induced oxidative stress in the liver denoted by a significant elevation in malondialdehyde, protein carbonyl, and 8‐hydroxy‐2‐deoxyguanosine with a significant reduction in catalase activity and glutathione (GSH) content. The activity of the detoxification enzyme cytochrome P450 (CYP450) increased while GSH transferase (GSH‐T) decreased. The activity of the apoptotic marker caspase‐3 increased concomitant with increased hyaluronic acid, hydroxyproline, laminin (LN), and collagen IV. These alterations were associated with a significant increase of gamma‐glutamyl transferase, alkaline phosphatase and alanine and aspartate aminotransferase markers of liver dysfunction. Betaine treatment has significantly attenuated oxidative stress, decreased the activity of CYP450, enhanced GSH‐T, reduced the activity of caspase‐3, and the level of fibrotic markers concomitant with a significant improvement of liver function. In conclusion, betaine through its antioxidant activity and by enhancing liver detoxification and reducing apoptosis may alleviate the progression of liver fibrosis and exert a beneficial impact on radiation‐induced liver damage. 相似文献
10.
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
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Sophie Thomas Kevin J. Wright Stéphanie Le Corre Alessia Micalizzi Marta Romani Avinash Abhyankar Julien Saada Isabelle Perrault Jeanne Amiel Julie Litzler Emilie Filhol Nadia Elkhartoufi Mandy Kwong Jean‐Laurent Casanova Nathalie Boddaert Wolfgang Baehr Stanislas Lyonnet Arnold Munnich Lydie Burglen Nicolas Chassaing Ferechté Encha‐Ravazi Michel Vekemans Joseph G. Gleeson Enza Maria Valente Peter K. Jackson Iain A. Drummond Sophie Saunier Tania Attié‐Bitach 《Human mutation》2014,35(1):137-146
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice‐site mutation in PDE6D, encoding a prenyl‐binding protein. We found that pde6d depletion in zebrafish leads to renal and retinal developmental anomalies and wild‐type but not mutant PDE6D is able to rescue this phenotype. Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl‐dependent cargo of PDE6D. Mutant PDE6D shows reduced binding to INPP5E, which fails to localize to primary cilia in patient fibroblasts and tissues. Furthermore, mutant PDE6D is unable to bind to GTP‐bound ARL3, which acts as a cargo‐release factor for PDE6D‐bound INPP5E. Altogether, these results indicate that PDE6D is required for INPP5E ciliary targeting and suggest a broader role for PDE6D in targeting other prenylated proteins to the cilia. This study identifies PDE6D as a novel JS disease gene and provides the first evidence of prenyl‐binding‐dependent trafficking in ciliopathies. 相似文献