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排序方式: 共有257条查询结果,搜索用时 15 毫秒
41.
Lovicu M Dessì V Lepori MB Zappu A Zancan L Giacchino R Marazzi MG Iorio R Vegnente A Vajro P Maggiore G Marcellini M Barbera C Kostic V Farci AM Solinas A Altuntas B Yuce A Kocak N Tsezou A De Virgiliis S Cao A Loudianos G 《Journal of gastroenterology》2006,41(6):582-587
Background It has recently been demonstrated that the Wilson disease (WD) protein directly interacts with the human homolog of the MURR1
protein in vitro and in vivo, and that this interaction is specific for the copper transporter. The aim of the present study
was to clarify the role of MURR1 in the pathogenesis of WD as well as in other WD-like disorders of hepatic copper metabolism
of unknown origin.
Methods Using the single-strand conformation polymorphism (SSCP) method followed by sequencing, we analyzed the 5′ untranslated region
(UTR) and three exons of the MURR1 gene in three groups of patients: 19 wd patients in whom no mutations were detected in the ATP7B gene, 53 wd patients in whom only one mutation in the ATP7B gene was found, and 34 patients in whom clinical and laboratory data suggested a WD-like disorder of hepatic copper metabolism
of unknown origin.
Results We detected in these patients six rare nucleotide substitutions, namely one splice-site consensus sequence and one missense
and four silent nucleotide substitutions. All substitutions except one were found in the heterozygous state. No difference
in the frequencies of the various substitutions was observed between patients and controls.
Conclusions These data suggest that the MURR1 gene and its protein product are unlikely to play a primary role in the pathogenesis of Wilson disease. More extensive studies
with larger numbers of clinically homogeneous patients should be carried out to establish whether nucleotide alterations in
the MURR1 gene may have a role in causing WD or WD-like disorders or act as modifying factors in the phenotype variability in WD. 相似文献
42.
Fretzayas A Kitsiou S Tsezou A Alexaki A Nicolaidou P 《Scandinavian journal of infectious diseases》2006,38(6-7):537-540
We describe 4 jaundiced neonates with acute pyelonephritis of whom family history was positive for or pointed to Gilbert's syndrome (GS). Uridine diphosphate glucuronosyltransferase 1A1 (UGT-1A1), (TA)7 polymorphism, associated with GS was found in these neonates. We suggest that extended (TA)7 promoter, acting as a predisposing factor, contributes substantially to hyperbilirubinaemia seen in a number of neonates with urinary tract infections (UTIs). 相似文献
43.
Tsezou A Poultsides L Kostopoulou F Zintzaras E Satra M Kitsiou-Tzeli S Malizos KN 《Clinical and Vaccine Immunology : CVI》2008,15(12):1888-1890
The association between cytokine gene polymorphisms and chronic osteomyelitis was investigated in order to determine whether genetic variability in cytokine genes predisposes to osteomyelitis susceptibility. Significant genotypic and allelic associations were observed between interleukin 1α (IL-1α) −889-C/T, IL-4 −1098-G/T and −590-C/T, and IL-6 −174-G/C polymorphisms and osteomyelitis in the Greek population, pointing towards their potential involvement in osteomyelitis pathogenesis. 相似文献
44.
Zachaki S Vrettou C Destouni A Kokkali G Traeger-Synodinos J Kanavakis E 《Hemoglobin》2011,35(1):56-66
Preimplantation genetic diagnosis (PGD) for β hemoglobinopathies has become the most common application among monogenic disorders. We present the identification of microsatellite markers [short tandem repeats (STRs)] closely linked to the β-globin gene for incorporation within PGD protocols, with the aim of increasing the number of transferable embryos. Nine candidate STRs were identified in-silico, of which three were selected based on rate-of-heterozygosity, polymerase chain reaction (PCR) efficiency and size. The multiplex reaction (β-globin gene and selected STRs, all within <0.4 Mb from the β gene) was optimized in single lymphocytes, and subsequently applied in 38 PGD cycles in couples at-risk for transmitting β hemoglobinopathies. In conclusion, incorporation of closely linked polymorphic microsatellite markers <0.4 Mb from the β-globin gene, facilitates robust assignment of β hemoglobinopathy genotypes, increasing the number of transferrable embryos otherwise rejected due to allele-drop-out (ADO), at the mutation-specific locus, compared to results based on disease-mutation genotyping alone (p < 0.001). 相似文献
45.
Cristina OCallaghan-Gordo Manolis Kogevinas Eleni Fthenou Marie Pedersen Ana Espinosa Georgia Chalkiadaki Vasiliki Daraki Eirini Dermitzaki Ilse Decordier Vaggelis Georgiou Domenico Franco Merlo Theano Roumeliotaki Kim Vande Loock Jos Kleinjans Micheline Kirsch-Volders Leda Chatzi 《Clinical nutrition (Edinburgh, Scotland)》2017,36(4):1029-1035
46.
Outcome of treatment in adults with acute lymphoblastic leukemia: analysis of the LALA-94 trial. 总被引:21,自引:0,他引:21
Xavier Thomas Jean-Michel Boiron Fran?oise Huguet Hervé Dombret Ken Bradstock Norbert Vey Tibor Kovacsovics André Delannoy Nathalie Fegueux Pierre Fenaux Aspasia Stamatoullas Jean-Paul Vernant Olivier Tournilhac Agnès Buzyn Oumedaly Reman Christiane Charrin Claude Boucheix Jean Gabert Véronique Lhéritier Denis Fiere 《Journal of clinical oncology》2004,22(20):4075-4086
PURPOSE: We analyzed the benefits of a risk-adapted postremission strategy in adult lymphoblastic leukemia (ALL), and re-evaluated stem-cell transplantation (SCT) for high-risk ALL. PATIENTS AND METHODS: A total of 922 adult patients entered onto the trial according to risk groups: standard-risk ALL (group 1), high-risk ALL (group 2), Philadelphia chromosome-positive ALL (group 3), and CNS-positive ALL (group 4). All received a standard four-drug/4-week induction course. Patients from group 1 who achieved a complete remission (CR) after one course of induction therapy were randomly assigned between intensive and less intensive postremission chemotherapy, whereas those who achieved CR after salvage therapy were then included in group 2. Patients in groups 2, 3, and 4 with an HLA-identical sibling were assigned to allogeneic SCT. In groups 3 and 4, autologous SCT was offered to all other patients, whereas in group 2 they were randomly assigned between chemotherapy and autologous SCT. RESULTS: Overall, 771 patients achieved CR (84%). Median disease-free survival (DFS) was 17.5 months, with 3-year DFS at 37%. In group 1, the 3-year DFS rate was 41%, with no difference between arms of postremission randomization. In groups 2 and 4, the 3-year DFS rates were 38% and 44%, respectively. In group 2, autologous SCT and chemotherapy resulted in comparable median DFS. Patients with an HLA-matched sibling (groups 2 and 4) had improved DFS. Three-year DFS was 24% in group 3. CONCLUSION: Allogeneic SCT improved DFS in high-risk ALL in the first CR. Autologous SCT did not confer a significant benefit over chemotherapy for high-risk ALL. 相似文献
47.
48.
Georgios Tsivgoulis Odysseas Kargiotis Aristeidis H. Katsanos Athanasia Patousi Maria Pikilidou Theodosis Birbilis Michael Mantatzis Lina Palaiodimou Sokratis Triantafyllou Nikolaos Papanas Panagiotis Skendros Aikaterini Terzoudi George S. Georgiadis Efstratios Maltezos Charitomeni Piperidou Aspasia Serdari Aikaterini Theodorou Ignatios Ikonomidis Ioannis Heliopoulos Konstantinos Vadikolias 《Journal of neuroimaging》2019,29(6):737-742
49.
50.
Marianne Paesmans Jean Klastersky Johan Maertens Aspasia Georgala Fr��d��rique Muanza Mickael Aoun Augustin Ferrant Bernardo Rapoport Ken Rolston Lieveke Ameye 《Supportive care in cancer》2011,19(7):1001-1008