Abstract:
:Mitochondrial disorders encompass any medical specialty and affect patients at any age. Likewise, the spectrum of clinical and genetic signatures of these disorders is ample, making a precise diagnosis difficult. We will report some of the major clinical phenotypes observed in infancy, their underlining molecular features, and will propose an approach to reach a more complete diagnosis.
journal_name
Biosci Repjournal_title
Bioscience reportsauthors
Carrozzo R,Piemonte F,Tessa A,Lucioli S,Rizza T,Meschini MC,Fattori F,Santorelli FMdoi
10.1007/s10540-007-9039-ysubject
Has Abstractpub_date
2007-06-01 00:00:00pages
105-12issue
1-3eissn
0144-8463issn
1573-4935journal_volume
27pub_type
杂志文章,评审abstract:OBJECTIVE:To observe the restraining effect of IL-38 on inflammatory response in collagen-induced arthritis rats (CIA), and to explore the regulatory mechanism of SIRT1/HIF-1α signaling pathway. METHODS:40 SD rats were randomly divided into Control group, CIA group, CLL group and CLH group, with 10 rats in each group;...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182431
更新日期:2020-05-29 00:00:00
abstract::Objectives In the present study, we examined available articles from online databases to comprehensively investigate the effect of the XPC (xeroderma pigmentosum complementation group C) rs2228000 polymorphism on the risk of different types of clinical cancer. Methods We conducted a group of overall and subgroup pooli...
journal_title:Bioscience reports
pub_type: 杂志文章,meta分析
doi:10.1042/BSR20192452
更新日期:2019-12-20 00:00:00
abstract::The proton conductance of the mitochondrial inner membrane can be quantified by applying Ohm's law to the experimentally determined protonmotive force and the proton current flowing around the proton circuit in the absence of ATP synthesis or ion transport. This last parameter is derived from the rate of State 4 respi...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1023/a:1027376426860
更新日期:1997-06-01 00:00:00
abstract::Partitioning in charge-sensitive dextran-poly(ethylene glycol) aqueous phase systems reveals that fixation with even small concentrations of glutaraldehyde (e.g., 0.1% w/v) changes the surface properties of cells. While fixation with larger concentrations of glutaraldehyde (i.e., 1.85%) increases erythrocyte partition...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01114811
更新日期:1989-12-01 00:00:00
abstract::This short article provides a comment on the recent article by Tauriainen et al. [Bioscience Reports (2018) 38, BSR20171274 https://doi.org/10.1042/BSR20171274]. ...
journal_title:Bioscience reports
pub_type: 评论,信件
doi:10.1042/BSR20180505
更新日期:2018-10-31 00:00:00
abstract::Although membrane fusion occurs ubiquitously and continuously in all eukaroytic cells, little is known about the mechanism that governs lipid bilayer fusion associated with any intracellular fusion reactions. Recent studies of the fusion of enveloped viruses with host cell membranes have helped to define the fusion pr...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1023/a:1010454803579
更新日期:2000-12-01 00:00:00
abstract::Polycationic amino acids induce the leakage and fusion of liposomes containing anionic lipids. We have investigated the nature and extent of the changes in membrane physical properties caused by these polypeptides which could result in the observed membrane destabilization. We found that in the range of pH 5 to pH 7 b...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01207455
更新日期:1995-06-01 00:00:00
abstract::The concentration of carbonic anhydrase III (CAIII) in male rat liver was found to be 30 times greater than that in the female. Castration of male rats led to marked reduction in liver CAIII concentrations which could be partially restored to control levels by testosterone replacement. Marked developmental and senesce...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01121959
更新日期:1983-05-01 00:00:00
abstract::Abnormal aggregation of pathological tau protein is a neuropathological feature of Alzheimer's disease (AD). In the AD patients, the abnormal tau accumulation first appeared in entorhinal cortex (EC) and then propagated to the hippocampus with microglia activation and inflammation, but the mechanism is elusive. Here, ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20193629
更新日期:2020-02-28 00:00:00
abstract::As a zinc transporter, SLC39A7 (zip7) is vital in intestinal epithelial self-renewal, and recent studies suggested that SLC39A7 was related to cancer progression. Whereas, little is known about the role of SLC39A7 in gastric cancer (GC). In the present study, qRT-PCR analysis demonstrated that SLC39A7 mRNA level was i...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20200041
更新日期:2020-02-28 00:00:00
abstract::Muscle tissue levels of d1-alpha-tocopherol (vitamin E) were significantly lower in endurance-trained rats than in sedentary animals, whether the animals were fed on vitamin-E-deficient or control (vitamin-E-sufficient) diets. In vitamin-E-deficient rats, liver tissue levels of vitamin E were significantly lower in th...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01119661
更新日期:1984-03-01 00:00:00
abstract::The cDNA encoding about half of an antigenic non-surface schistosome parasite protein of Mr 97 K has recently been cloned and sequenced (Lanar, Pearce, James and Sher (1986) Science 234:593-596). Analysis of this sequence, together with the properties of the native protein, reveals that this protein is paramyosin, the...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01122722
更新日期:1987-01-01 00:00:00
abstract::Folic acid (FA), which is necessary for normal cell division of mammals, has been implicated to be involved in many tumors. Dietary FA intake has been reported to be associated with a lower risk of nasopharyngeal cancer (NPC). However, the molecular mechanisms of FA in NPC cells remain unclear. In the present study, w...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20170772
更新日期:2017-12-05 00:00:00
abstract::Isoliquiritigenin (ISL), a natural product isolated from licorice root, exhibits anti-gastric cancer effects. However, applications of ISL are still limited in clinical practice due to its poor bioavailability. To discovery of more effective anti-gastric cancer agents based on ISL, aldol condensation reaction was appl...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20201199
更新日期:2020-06-26 00:00:00
abstract::Erythrocytes suspended in a medium of low ionic strength lyse under the effect of an exponential electrical pulse. The percentage of haemolysed cells decreases several-fold in the presence of divalent cations. The protective action of the ions studied increases in the following order: Ca++, Mg++, Zn++. It is assumed t...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01121639
更新日期:1988-10-01 00:00:00
abstract::Matrix-bound monoclonal antibodies against urokinase have been used to purify this enzyme by affinity chromatography. In a single-step procedure, urokinase can be isolated from crude preparations with high yield and high purity, and without loss of enzymatic activity. ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01122902
更新日期:1983-04-01 00:00:00
abstract::We aimed to determine the effect of 'Xiaozeng No. 1' (XZ-1) on cellular apoptosis changes of gastric epithelial dysplasia (GED) and to explore the underlying mechanism. Specimens taken from the pyloric area of the stomachs from rats in each group were subjected to Hematoxylin and Eosin (H&E) staining for pathological ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20171529
更新日期:2018-06-12 00:00:00
abstract::Oral vaccination requires an antigen delivery vehicle to protect the antigen and to enhance translocation of the antigen to the mucosa-associated lymphoid tissue. A variety of antigen delivery vehicles including liposomes have been studied for mucosal immunization. The advantages of liposome formulations are their par...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1023/a:1020103109483
更新日期:2002-04-01 00:00:00
abstract::Fasudil is a derivative of 5-isoquinoline sulfonamide, which is a Rho kinase inhibitor, a wide range of pharmacological effects. Fasudil has been shown to attenuate kidney injury caused by certain substances. In the present study, metabolomic analysis of mouse kidney tissues ultra-performance liquid chromatography/qua...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20192940
更新日期:2019-11-29 00:00:00
abstract::Peri-implantitis, which is characterized by dense inflammatory infiltrates and increased osteoclast activity, can lead to alveolar bone destruction and implantation failure. miRNAs participate in the regulation of various inflammatory diseases, such as periodontitis and osteoporosis. Therefore, the present study aimed...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20170768
更新日期:2017-10-11 00:00:00
abstract::Pregnant rabbit mammary gland explants cultured with insulin, prolactin and cortisol synthesize and secrete transferrin radiolabelled with [3H]leucine or [3H]mannose. Addition of tunicamycin inhibits the glycosylation but not synthesis of the [3H]leucine-labelled polypeptide. Secretion of the non-glycosylated protein ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01119592
更新日期:1985-03-01 00:00:00
abstract::The cellular onc-genes c-src and c-yes are expressed very differently during chicken embryonic development. The c-src mRNA and its translational product are detectable at high levels in brain extracts of chicken embryos and adult chickens, whereas muscle extracts show an age-dependent decrease in the amounts of c-src-...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01128817
更新日期:1984-09-01 00:00:00
abstract::Background: Nasopharyngeal carcinoma (NPC) is a disease highly sensitive to radiotherapy with the unclear etiology. However, the specific effects of microRNA-613 (miR-613) on NPC still remain elusive. Therefore, the present study probes into the underlying mechanism of miR-613 in NPC via AKT signaling pathway by regul...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182196
更新日期:2019-07-10 00:00:00
abstract:OBJECTIVE:The current study aimed to investigate the functional roles and clinical significance of microRNA-148a (miR-148a) in the progression of oral squamous cell carcinoma (OSCC). METHODS:Relative expression of miR-148a in OSCC cells and tissues were detected using quantitative real-time polymerase chain reaction (...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182458
更新日期:2020-04-30 00:00:00
abstract::A natural avermectin complex, aversectin C, was shown to be capable of exerting selective cytostatic and neurotoxic effects on mammalian cells. Specifically, it killed proliferating neuroblastoma B103 cells but was non-toxic for differentiated cells of this culture. The antiproliferation action of aversectin C was not...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1023/a:1020262811459
更新日期:1999-12-01 00:00:00
abstract::Pulmonary arterial hypertension (PAH) is a life-threatening chronic cardiopulmonary disorder. However, studies providing PAH-related gene expression profiles are scarce. To identify hub genes involved in PAH, we investigate two microarray data sets from gene expression omnibus (GEO). A total of 150 differentially expr...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20202346
更新日期:2020-09-30 00:00:00
abstract::Activatable cell-penetrating peptides (aCPPs) allow non-viral, low cytotoxic and selective delivery of compounds into target cells for cancer therapy. In tumour cells, up-regulation of human telomerase reverse transcriptase (hTERT) frequently occurs and is being considered as a target in cancer diagnosis and treatment...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20140145
更新日期:2015-03-18 00:00:00
abstract::PDC (pyruvate dehydrogenase complex) is a multi-enzyme complex comprising an E1 (pyruvate decarboxylase), an E2 (dihydrolipomide acetyltransferase) and an E3 (dihydrolipoamide dehydrogenase). PDC catalyses the decarboxylation of pyruvate and forms acetyl-CoA and NADH. In the human malaria parasite Plasmodium falciparu...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20140150
更新日期:2015-01-14 00:00:00
abstract::Endothelin-1 (ET-1) and plasminogen activator inhibitor-1 (PAI-1) play important roles in pulmonary hypertension (PH) in sickle cell disease (SCD). Our previous studies show higher levels of placenta growth factor (PlGF) in SCD correlate with increased plasma levels of ET-1, PAI-1, and other physiological markers of P...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20150190
更新日期:2015-10-12 00:00:00
abstract::Glioblastomas (GBMs) are a lethal class of brain cancer, with a median survival <15 months in spite of therapeutic advances. The poor prognosis of GBM is largely attributed to acquired chemotherapy resistance, and new strategies are urgently needed to target resistant glioma cells. Here we report a role for miR-299-5p...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20181051
更新日期:2018-09-12 00:00:00