bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in the galactose‐1‐phosphate uridyltransferase gene of two families with mild galactosaemia variants
Authors: Sommer M. , Gathof B. S. , Podskarbi T. , Giugliani R. , Kleinlein B. , Shin Y. S. 
Published: August 2006

SummaryClassical galactosaemia, deficiency of galactose‐1‐phosphate uridyltransferase (GALT), is characterized by acute symptoms of hepatomegaly, jaundice, sepsis, cataracts and growth retardation. Treatment with dietary galactose restriction corrects these complications immediately; however, most of these children develop long‐term complications of verbal dyspraxia, mental retardation and ovarian failure. Our previous molecular study showed that the most common mutation of the GALT gene is a missense mutation of Q188R (replacement of glutamine‐188 by arginine) in approximately 60–65% of the German galactosaemic population. The coding region of GALT was amplified by the polymerase chain reaction from genomic DNA of classical galactosaemic individuals, who are negative or heterozygous for Q188R, and was further characterized by direct sequencing. Three new disease‐causing mutations, two missense and a stop codon mutation, were identified in three patients from two families with mild galactosaemic variants: firstly R67C, replacement of arginine‐67 by cysteine and W316X, the stop codon at tryptophan‐316 in one male; secondly A330V, replacement of alanine‐330 by valine in two female siblings. In the first family the patient was also heterozygous for the polymorphism N314D and in the second family both girls were compound heterozygotes for Q188R and A330V. All three galactosaemic individuals have a considerable amount of the residual GALT activity in RBC and the galactose‐1‐phosphate (GALP) level decreased much faster on treatment than that of other galactosaemic patients with missense mutations such as Q188R. The clinical and biochemical data of these patients were much more favourable in comparison with those of two female galactosaemic individuals, one homozygous for L195P and the other compound heterozygous for Q188R and L195P. These three missense mutations (R67C, L195P and A330V) also occur in highly conserved regions. These observations suggest that the phenotypic variation in galactosaemic individuals may be due to different molecular aetiologies.
Biochemical, clinical and neuroradiological (MRI) correlations in late‐detected PKU patients
Authors: Leuzzi V. , Trasimeni G. , Gualdi G. F. , Antonozzi I. 
Published: August 2006

SummaryBrain magnetic resonance imaging (MRI) was performed in 17 late‐detected PKU patients (aged 2.8–25 years). Twelve subjects had been treated late (0.7–4.5 years), and 5 not at all. Four were still on diet when the study was performed. Mental development was normal in 4 subjects, mildly retarded in 6, and moderately or severely retarded in 7. None had exhibited mental or neurological deterioration. On MRI examination a symmetrical increase of T2‐weighted signal in the periventricular white matter was found in all patients, although to different degrees. Concomitant signal decrease on the T1‐weighted sequences was detected in 9 patients. Ten subjects showed focal white‐matter abnormalities. A variable degree of cortical and subcortical atrophy was found in 12 subjects, and asymmetry of lateral ventricles in 4.White‐matter involvement correlated with phenylalanine concentrations during the year preceding (rs=0.5706;p<0.02) and at the time of (rs=0.6182,p<0.01) the investigation. Cortical and subcortical atrophy correlated with the patient's age (rs=0.5889,p<0.02, andrs=0.5929p<0.02, respectively).We conclude that late‐detected PKU patients showed the same MRI abnormalities reported in early‐treated subjects and in subjects who underwent neurological deterioration; white‐matter abnormalities possibly result from the recent exposure to high phenylalanine concentrations; in late‐detected PKU subjects cerebral atrophy could be the late result of chronic exposure to high phenylalanine concentrations.
Miniband-related 1.4–1.8 μm luminescence of Ge/Si quantum dot superlattices
Authors: Talalaev V.G. , Cirlin G.E. , Tonkikh A.A. , Zakharov N.D. , Werner P. , Gösele U. , Tomm J.W. , Elsaesser T. 
Published: August 2006

AbstractThe luminescence properties of highly strained, Sb-doped Ge/Si multi-layer heterostructures with incorporated Ge quantum dots (QDs) are studied. Calculations of the electronic band structure and luminescence measurements prove the existence of an electron miniband within the columns of the QDs. Miniband formation results in a conversion of the indirect to a quasi-direct excitons takes place. The optical transitions between electron states within the miniband and hole states within QDs are responsible for an intense luminescence in the 1.4–1.8 µm range, which is maintained up to room temperature. At 300 K, a light emitting diode based on such Ge/Si QD superlattices demonstrates an external quantum efficiency of 0.04% at a wavelength of 1.55 µm.
Aggregate structure of hydroxyproline-rich glycoprotein (HRGP) and HRGP assisted dispersion of carbon nanotubes
Authors: Wegenhart Ben , Tan Li , Held Michael , Kieliszewski Marcia , Chen Liwei 
Published: August 2006

Abstract
Hydroxyproline-rich glycoproteins (HRGP) comprise a super-family of extracellular structural glycoproteins whose precise roles in plant cell wall assembly and functioning remain to be elucidated. However, their extended structure and repetitive block co-polymer character of HRGPs may mediate their self-assembly as wall scaffolds by like-with-like alignment of their hydrophobic peptide and hydrophilic glycopeptide modules. Intermolecular crosslinking further stabilizes the scaffold. Thus the design of HRGP-based scaffolds may have practical applications in bionanotechnology and medicine. As a first step, we have used single-molecule or single-aggregate atomic force microscopy (AFM) to visualize the structure of YK20, an amphiphilic HRGP comprised entirely of 20 tandem repeats of: Ser-Hyp4-Ser-Hyp-Ser-Hyp4-Tyr-Tyr-Tyr-Lys. YK20 formed tightly aggregated coils at low ionic strength, but networks of entangled chains with a porosity of ~0.5–3 μm at higher ionic strength. As a second step we have begun to design HRGP-carbon nanotube composites. Single-walled carbon nanotubes (SWNTs) can be considered as seamless cylinders rolled up from graphene sheets. These unique all-carbon structures have extraordinary aromatic and hydrophobic properties and form aggregated bundles due to strong inter-tube van der Waals interactions. Sonicating aggregated SWNT bundles with aqueous YK20 solubilized them presumably by interaction with the repetitive, hydrophobic, Tyr-rich peptide modules of YK20 with retention of the extended polyproline-II character. This may allow YK20 to form extended structures that could potentially be used as scaffolds for site-directed assembly of nanomaterials.
Gold nanowires and the effect of impurities
Authors: da Silva Edison Z. , Novaes Frederico D. , da Silva Antônio J.R. , Fazzio A. 
Published: August 2006

Abstract
Metal nanowires and in particular gold nanowires have received a great deal of attention in the past few years. Experiments on gold nanowires have prompted theory and simulation to help answer questions posed by these studies. Here we present results of computer simulations for the formation, evolution and breaking of very thin Au nanowires. We also discuss the influence of contaminants, such as atoms and small molecules, and their effect on the structural and mechanical properties of these nanowires.
Paranasal sinus computed tomography findings in patients treated for lepromatous leprosy
Authors: Kiris A , Karlidag T , Kocakoc E , Bozgeyik Z , Sarsilmaz M 
Published: August 2006

Aim: Nasal and paranasal sinus involvement is common in lepromatous leprosy and is of considerable epidemiological significance. The aim of this study was to investigate paranasal sinus abnormalities in treated lepromatous leprosy cases and to evaluate the findings in comparison with those of previous studies.Materials and methods: Thirty-eight patients who had been treated for lepromatous leprosy were included. All patients had been treated with dapsone and rifampicine for six months, and followed with dapsone, rifampicine and clofamizine for a minimum of two years. All patients received a clinical examination, a coronal computed tomography (CT) examination of the paranasal sinuses and ethmoidal sinus endoscopy, in order to investigate the involvement of the paranasal sinuses in the leprosy. Ethmoidal sinus biopsies were taken in 18 of the 21 cases of ethmoidal sinus involvement noted on CT scan.Results: Twenty-three patients had sino-nasal symptoms. Endoscopic examination showed different pathologies in 21 of these patients. Abnormalities in the paranasal CT images were observed in 27 patients. The ethmoidal, maxillary, frontal and sphenoid sinuses were affected in 21, 18, three and two patients, respectively. Various degrees of nasal septum perforation were noted in 18 cases. In six of the 18 patients biopsied, the biopsy specimen showed involvement by lepromatous leprosy.Conclusion: These findings suggest that although these lepromatous leprosy patients had been treated, persistent infection was still commonly encountered. Paranasal sinus CT examination is a useful method for the evaluation of patient response to treatment and follow up; however, a CT scan alone cannot determine whether the leprosy is active.
Donitriptan, but not sumatriptan, inhibits capsaicin‐induced canine external carotid vasodilatation via 5‐HT1Brather than 5‐HT1Dreceptors
Authors: Muñoz‐Islas E , Gupta S , Jiménez‐Mena L R , Lozano‐Cuenca J , Sánchez‐López A , Centurión D , Mehrotra S , MaassenVanDenBrink A , Villalón C M 
Published: August 2006

Background and purpose:It has been suggested that during a migraine attack capsaicin‐sensitive trigeminal sensory nerves release calcitonin gene‐related peptide (CGRP), resulting in cranial vasodilatation and central nociception; hence, trigeminal inhibition may prevent this vasodilatation and abort migraine headache. This study investigated the effects of the agonists sumatriptan (5‐HT1B/1Dwater‐soluble), donitriptan (5‐HT1B/1Dlipid‐soluble), PNU‐142633 (5‐HT1Dwater‐soluble) and PNU‐109291 (5‐HT1Dlipid‐soluble) on vasodilator responses to capsaicin,α‐CGRP and acetylcholine in dog external carotid artery.Experimental approach:59 vagosympathectomized dogs were anaesthetized with sodium pentobarbitone. Blood pressure and heart rate were recorded with a pressure transducer, connected to a cannula inserted into a femoral artery. A precalibrated flow probe was placed around the common carotid artery, with ligation of the internal carotid and occipital branches, and connected to an ultrasonic flowmeter. The thyroid artery was cannulated for infusion of agonists.Key results:Intracarotid infusions of capsaicin,α‐CGRP and acetylcholine dose‐dependently increased blood flow through the carotid artery. These responses remained unaffected after intravenous (i.v.) infusions of sumatriptan, PNU‐142633, PNU‐109291 or physiological saline; in contrast, donitriptan significantly attenuated the vasodilator responses to capsaicin, but not those toα‐CGRP or acetylcholine. Only sumatriptan and donitriptan dose‐dependently decreased the carotid blood flow. Interestingly, i.v. administration of the antagonist, SB224289 (5‐HT1B), but not of BRL15572 (5‐HT1D), abolished the inhibition by donitriptan.Conclusions and implications:Our results suggest that the inhibition produced by donitriptan of capsaicin‐induced external carotid vasodilatation is mainly mediated by 5‐HT1B, rather than 5‐HT1D, receptors, probably by a central mechanism.British Journal of Pharmacology(2006)149, 82–91. doi:10.1038/sj.bjp.0706839
Systemically administered trefoil factors are secreted into the gastric lumen and increase the viscosity of gastric contents
Authors: Kjellev S , Nexø E , Thim L , Poulsen S S 
Published: August 2006

Background and purpose:Trefoil factors (TFFs) secreted by mucus‐producing cells are essential for the defence of the gastrointestinal mucosa. TFFs probably influence the viscoelastic properties of mucus, but this has not been demonstrated in vivo. We therefore studied the gastric secretion of systemically administered TFF2 and TFF3, and their influence on the viscosity of the secretions.Experimental approach:Mice and rats under general anaesthesia were injected intravenously with human (h) TFF2, hTFF3 (5 mg kg−1 to mice and 25 mg kg−1 to rats), murine (m) 125I‐TFF3, or 125I‐hTFF3 (300 000 cpm, mice only). The appearance of TFFs in the gastric mucosa and luminal secretions was analysed by autoradiography, gamma‐counting, and ELISA, and the viscosity by rheometry.Key results:125I‐mTFF3 and 125I‐hTFF3 were taken up by secretory cells of the gastrointestinal tract and detected at the gastric mucosal surface 15 min after injection. Stressing the stomach by carbachol (3.5 μg kg−1) and pyloric ligation significantly increased the uptake. Injected hTFF2, hTFF3, and mTFF3 were retrieved from the gastric contents after 4 h. In rats, an approximately seven‐fold increase in the viscosity was detected after injection of TFF2 compared to the controls, whereas TFF3 did not increase the viscosity. In mice, TFF2 increased the viscosity approximately 4‐fold.Conclusions:These data indicate that systemically administered TFFs are transferred to the gastric lumen in a biologically active form.British Journal of Pharmacology (2006) 149, 92–99. doi:10.1038/sj.bjp.0706840
Protection from experimental colitis by theaflavin‐3,3′‐digallate correlates with inhibition of IKK and NF‐κB activation
Authors: Ukil A , Maity S , Das P K 
Published: August 2006

Background and purpose:Inflammatory bowel disease (IBD) is associated with activation of nuclear factor κ B (NF‐κB) involved in regulating the expression of inducible nitric oxide synthase (iNOS) and proinflammatory cytokine genes. As theaflavin‐3,3′‐digallate (TFDG), the most potent anti‐oxidant polyphenol of black tea, down‐regulates NF‐κB activation, we investigated if TFDG is beneficial in colonic inflammation by suppressing iNOS and proinflammatory cytokines.Experimental approach:Thein vivoefficacy of TFDG was assessed in mice with trinitrobenzene sulfonic acid (TNBS)‐induced colitis. Both mRNA and protein levels of proinflammatory cytokines and iNOS were analyzed in colon tissue treated with or without TFDG. NF‐κB activation was determined by electrophoretic mobility shift assay and levels of NF‐κB inhibitory protein (IκBα) were analyzed by Western blotting.Key results:Oral administration of TFDG (5 mg kg−1daily i.g.) significantly improved TNBS‐induced colitis associated with decreased mRNA and protein levels of TNF‐α, IL‐12, IFN‐γand iNOS in colonic mucosa. DNA binding and Western blotting revealed increase in NF‐κB activation and IκBαdepletion in TNBS‐treated mice from Day 2 through Day 8 with a maximum at Day 4, which resulted from increased phosphorylation of IκBαand higher activity of IκB kinase (IKK). Pretreatment with TFDG markedly inhibited TNBS‐induced increases in nuclear localization of NF‐κB, cytosolic IKK activity and preserved IκBαin colon tissue.Conclusions and Implications:TFDG exerts protective effects in experimental colitis and inhibits production of inflammatory mediators through a mechanism that, at least in part, involves inhibition of NF‐κB activation.British Journal of Pharmacology(2006)149, 121–131. doi:10.1038/sj.bjp.0706847
Integrin signalling regulates the nuclear localization and function of the lysophosphatidic acid receptor-1 (LPA1) in mammalian cells
Authors: Waters Catherine M. , Saatian Bahman , Moughal Noreen A. , Zhao Yutong , Tigyi Gabor , Natarajan Viswanathan , Pyne Susan , Pyne Nigel J. 
Published: August 2006

We show that LPA1 (lysophosphatidic acid receptor-1) is constitutively localized in the nucleus of mammalian cells. LPA1 also traffics from cell membranes to the nucleus in response to LPA (lysophosphatidic acid). Several lines of evidence suggest an important role for cell-matrix interaction in regulating the constitutive nuclear localization of LPA1. First, the RGDS peptide, which blocks cell matrix-induced integrin clustering and cytoskeletal rearrangement, reduced the number of cells containing LPA1 in the nucleus. Secondly, a higher proportion of cells contained nuclear LPA1 when adhesion on fibronectin-coated glass was compared with adherence to polylysine-coated glass. Thirdly, pre-treatment of cells with the Rho kinase inhibitor (Y27632) or the myosin light chain kinase inhibitor (ML9) reduced the number of cells containing nuclear LPA1. The addition of LPA and/or Ki16425 (which binds to LPA1) to isolated nuclei containing LPA1 induced the phosphorylation of several proteins with molecular masses of 34, 32, 14 and 11 kDa. These findings demonstrate that trafficking of LPA1 to the nucleus is influenced by cell-matrix interactions and that nuclear LPA1 may be involved in regulating intranuclear protein phosphorylation and signalling.
Effect of insulin on transcription of lipogenic and lipolytic-related genes and lipid metabolism in primary porcine adipocytes
Authors: Jian-Xiong Lu , Fen-Fen Chen , Gong-She Yang 
Published: August 2006

AbstractPrimary adipocytes from subcutaneous adipose tissue samples obtained from 7-day-old Yorkshire×Landrace crossbreed piglets were exposed to 0–400 nmol/l of insulin for 48 h. The accumulated triglyceride was measured through Oil Red O staining and the cumulative glycerol released was determined to assess lipolytic activity in adipocytes. Transcription levels of sterol regulatory element binding protein (SREBP)-1c, carbohydrate response element binding protein (ChREBP), acetyl-CoA carboxylase 1 (ACC1), fatty acid synthase (FAS), and hormone-sensitive lipase (HSL) were assessed using reverse transcriptase-polymerase chain reaction (RT-PCR). The results showed that ChREBP and ACC1 mRNA levels were not influenced by insulin alone under low glucose (5 nmol/l). FAS mRNA level was markedly stimulated by all doses of insulin except 200 nmol/l, and SREBP-1c mRNA level increased with 100–300 nmol/l insulin. High insulin doses (300 and 400 nmol/l) increased the HSL mRNA level as well as lipolytic activity.
Isolation and analysis of sox9 gene derived from yellow catfish Pelteobagrus fulvidraco
Authors: Ju-Hua Yu , Jian-Lin Li , Li-Ping Cao , Ting-Ting Wu , Hong Yang 
Published: August 2006

AbstractSox9 is one of the important genes related to sex differentiation and determination. Two partial cDNAs encoding sox9 were derived from brain, testis and ovary of yellow catfish Pelteobagrus fulvidraco using reverse transcriptase-polymerase chain reaction (RT-PCR). Sequence analysis revealed that the ovarian sox9a2 was different from sox9a1 derived from brain and testis. The identity rate of cDNA was 77%, that of amino acids was 84%, and the different nucleotides were distributed in different sites all over the cDNA. This finding confirmed that there were transcripts from two genes. Based on the homology of the amino-acid sequences for sox9 of other animals, the similarity for sox9a1 from yellow catfish and sox9 of other animals averaged 86%. The similarity for sox9a2 reached a mean of 83%. The phylogenetic analysis revealed yellow catfish sox9a1 and sox9a2 were clustered into the fish branch. And yellow catfish sox9a2 was different from the other fish sox9. There was no significant branch including all sox9 derived from testis and brain or including all ovarian sox9. The genetic distance was the same with the results of the traditional taxonomy. RT-PCR analysis indicated that sox9a1 was expressed in male and female yellow catfish forebrain as well as in gonads, whereas sox9a2 was only expressed in ovaries. The function of sox9a2 in female sex formation and ovary development needs to be studied in depth.
Genetic analysis of isozyme inPteria penguinR. and offspring from inbreeding and hybridized stocks ofPinctada martensiiD.
Authors: Mei-Fang Wang , Xiang-Yong Yu , Yong Liu , Yong Mao , Fei-Long Liang 
Published: August 2006

AbstractThe genetic variation of isozymes [esterase (EST), superoxide dismutase (SOD), malate dehydrogenase (MDH), malic enzyme (ME) and glucose-6-phosphate dehydrogenase (G6PD)] extracted from two different adult tissues (adductor muscle and gill) ofPteria penguinR. and offspring from two stocks ofPinctada martensiiD. were analysed by vertical polyacrylamide gel electrophoresis. The result showed an obvious and stable variation in the isozyme phenotypes in two different pearl oyster species. The SOD and EST isozymes from gill and MDH, ME and G6PDH from adductor muscle were species-specific. The electrophoretograms of these isozymes could be used as markers to differentiate the two pearl oysters. Between inbreeding and hybridized stocks ofP. martensii, the electrophoresis patterns of isozymes were alike, but the similarities of electrophoretograms in the inbreeding progenies were higher than in the hybridized ones. The characteristic electrophoretograms of isozymes could be applied as molecular markers in the breeding of pearl oysters.
Approaches to improve heterogeneous gene expression in transgenic plants
Authors: Tao Yin , Shang-long Zhang , Jing-mei Liu , De-ming Chen 
Published: August 2006

AbstractWith the development of plant genetic engineering, many transformation methods can be used to transfer heterogeneous genes into plants to develop genetic crops. However, a lot of research results have shown that transgene expression remains largely unpredictable and there is great variation of expression level in different transgenic plant lines. Plant genetic engineering research is reviewed in the present paper. We analysed the reasons why low efficiency of heterogeneous gene expression has happened in transgenic plants in terms of DNA modification, localization of proteins and methods of transformation used. Some strategies for improving heterogeneous gene expression in transgenic plants are also discussed.
Isolation, cultivation and identification of pancreatic stem/progenitor cells in rabbit
Authors: Hui-Ru Zhang , Ruo-Peng Feng , Xia Liu , Yu-Xiao Liu , Quan-Hai Pang , Zhong-Ying Dou 
Published: August 2006

AbstractPancreases obtained from 1–9-day-old rabbits were digested with 1 mg/ml ?? collagenase and cultivated with low-glucose Dulbecco's modified Eagle's medium (DMEM). The cells were subcultured almost until confluence. They were identified as pancreatic stem/progenitor cells using two methods: an immunohistochemical staining technique and the response of glucose-stimulated insulin secretion after β-cell induction. Results showed that the cells of rabbits acquired strong proliferation ability, and expressed the markers of pancreatic stem/progenitor cells: PDX-1, CK19 and nestin. After β-cell induction for 2 days, 20% of cells were dithizone (DTZ) positive, rapidly increasing to 80% after 6 days. Insulin secretion was stimulated by a high glucose concentration (26 mmol/l). These powerful tests demonstrated that isolated and cultivated cells in rabbits were pancreatic stem/progenitor cells. This result has not yet been reported elsewhere.