bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees
Authors: Fu Q.‐H. , Zhou R.‐F. , Liu L.‐G. , Wang W.‐B. , Wu W.‐M. , Ding Q.‐L. , Hu Y.‐Q. , Wang X.‐F. , Wang Z.‐Y. , Wang H.‐L. 
Published: April 2004

Summary.  To investigate the molecular defects in two Chinese pedigrees with inherited factor V (FV) deficiency.A 37‐year‐old male (proband 1) and an 18‐month‐old boy (proband 2) were diagnosed as inherited coagulation FV deficiency by severely reduced plasma levels of FV activity and antigen. All 25 exons and their flanking sequence of F5 gene were amplified by polymerase chain reaction (PCR) for both probands and the PCR products were directly sequenced. Total RNA was extracted from the peripheral lymphocytes of proband 1 for detecting the changes at mRNA level.The homozygous deletion IVS8 −2A>G was identified in the F5 gene of proband 1 and complementary DNA (cDNA) analysis revealed the abolishment of the canonical splicing site by the mutation and the activation of the cryptic acceptor site 24 bp upstream instead. The insertion introduced eight additional amino acids (AA) into the FV protein. Two heterozygous mutations of F5 gene were discovered in proband 2. The 2238‐9del AG in exon 13 introduced a premature termination code at 689 AA and the substitution of G6410 by T in exon 23 lead to the missense mutation Gly2079Val.Three F5 gene mutations, IVS8 −2A>G, 2238‐9del AG and G6410T, have been identified in two Chinese pedigree with congenital FV deficiency, respectively.
Salicylic acid dependent signaling promotes basal thermotolerance but is not essential for acquired thermotolerance in Arabidopsis thaliana
Authors: Clarke Shannon M. , Mur Luis A. J. , Wood Jacqueline E. , Scott Ian M. 
Published: April 2004

SummarySalicylic acid (SA) is reported to protect plants from heat shock (HS), but insufficient is known about its role in thermotolerance or how this relates to SA signaling in pathogen resistance. We tested thermotolerance and expression of pathogenesis‐related (PR) and HS proteins (HSPs) in Arabidopsis thaliana genotypes with modified SA signaling: plants with the SA hydroxylase NahG transgene, the nonexpresser of PR proteins (npr1) mutant, and the constitutive expressers of PR proteins (cpr1 and cpr5) mutants. At all growth stages from seeds to 3‐week‐old plants, we found evidence for SA‐dependent signaling in basal thermotolerance (i.e. tolerance of HS without prior heat acclimation). Endogenous SA correlated with basal thermotolerance, with the SA‐deficient NahG and SA‐accumulating cpr5 genotypes having lowest and highest thermotolerance, respectively. SA promoted thermotolerance during the HS itself and subsequent recovery. Recovery from HS apparently involved an NPR1‐dependent pathway but thermotolerance during HS did not. SA reduced electrolyte leakage, indicating that it induced membrane thermoprotection. PR‐1 and Hsp17.6 were induced by SA or HS, indicating common factors in pathogen and HS responses. SA‐induced Hsp17.6 expression had a different dose–response to PR‐1 expression. HS‐induced Hsp17.6 protein appeared more slowly in NahG. However, SA only partially induced HSPs. Hsp17.6 induction by HS was more substantial than by SA, and we found no SA effect on Hsp101 expression. All genotypes, including NahG and npr1, were capable of expression of HSPs and acquisition of HS tolerance by prior heat acclimation. Although SA promotes basal thermotolerance, it is not essential for acquired thermotolerance.
ABA activates ADPR cyclase and cADPR induces a subset of ABA‐responsive genes in Arabidopsis
Authors: Sánchez Juan‐Pablo , Duque Paula , Chua Nam‐Hai 
Published: April 2004

SummaryCyclic ADP‐ribose (cADPR) was previously shown to activate transient expression of two abscisic acid (ABA)‐responsive genes in tomato cells. Here, we show that the activity of the enzyme responsible for cADPR synthesis, ADP‐ribosyl (ADPR) cyclase, is rapidly induced by ABA in both wild‐type (WT) and abi1‐1 mutant Arabidopsis plants in the absence of protein synthesis. Furthermore, in transgenic Arabidopsis plants, induced expression of the Aplysia ADPR cyclase gene resulted in an increase in ADPR cyclase activity and cADPR levels, as well as elevated expression of ABA‐responsive genes KIN2, RD22, RD29a, and COR47 (although to a lesser extent than after ABA induction). Genome‐wide profiling indicated that about 28% of all ABA‐responsive genes in Arabidopsis are similarly up‐ and downregulated by cADPR and contributed to the identification of new ABA‐responsive genes. Our results suggest that activation of ADPR cyclase is an early ABA‐signaling event partially insensitive to the abi1‐1 mutation and that an increase in cADPR plays an important role in downstream molecular and physiological ABA responses.
New in silico insight into the synteny between rice (Oryza sativa L.) and maize (Zea mays L.) highlights reshuffling and identifies new duplications in the rice genome
Authors: Salse Jérôme , Piégu Benoit , Cooke Richard , Delseny Michel 
Published: April 2004

SummaryA unigene set of 1411 contigs was constructed from 2629 redundant maize expressed sequence tags (ESTs) mapped on the maizeDB genetic map. Rice orthologous sequences were identified by blast alignment against the rice genomic sequence. A total of 1046 (74%) maize contigs were associated with their corresponding homologues in the rice genome and 656 (47%) defined as potential orthologous relationships. One hundred and seventeen (8%) maize EST contigs mapped to two distinct loci on the maize genetic map, reflecting the tetraploid nature of the maize genome. Among 492 mono‐locus contigs, 344 (484 redundant ESTs) identify collinear blocks between maize chromosomes 2 and 4 and a single rice chromosome, defining six new collinear regions. Fine‐scale analysis of collinearity between rice chromosomes 1 and 5 with maize chromosomes 3, 6 and 8 shows the presence of internal rearrangements within collinear regions. Mapping of maize contigs to two distinct loci on the rice sequence identifies five new duplication events in rice. Detailed analysis of a duplication between rice chromosomes 1 and 5 shows that 11% of the annotated genes from the chromosome 1 locus are found duplicated on the chromosome 5 paralogous counterpart, indicating a high degree of re‐organisations. The implications of these findings for map‐based cloning in collinear regions are discussed.
Development and evaluation of an Arabidopsis whole genome Affymetrix probe array
Authors: Redman Julia C. , Haas Brian J. , Tanimoto Gene , Town Christopher D. 
Published: April 2004

SummaryWe describe the development of a high‐density Arabidopsis‘whole genome’ oligonucleotide probe array for expression analysis (the Affymetrix ATH1 GeneChip® probe array) that contains approximately 22 750 probe sets. Precedence on the array was given to genes for which either expression evidence or a credible database match existed. The remaining space was filled with ‘hypothetical’ genes. The new ATH1 array represents approximately 23 750 genes of which 60% were detected in RNA from cultured seedlings. Sensitivity of the array, determined using spiking controls, was approximately one transcript per cell. The array demonstrated high technical reproducibility and concordance with real‐time PCR results. Indole‐3 acetic acid (IAA)‐induced changes in gene expression were used for biological validation of the array. A total of 222 genes were significantly upregulated and 103 significantly downregulated by exposure to IAA. Of the genes whose products could be functionally classified, the largest specific classes of upregulated genes were transcriptional regulators and protein kinases, many fewer of which were represented among the downregulated genes. Over one‐third of the auxin‐regulated genes have no known function, although many belong to gene families with members that have previously been shown to be auxin regulated. For the 6714 genes represented both on this and the earlier Arabidopsis Genome (AG) array, both signal intensities and gene expression ratios were very similar. Mapping of the oligonucleotides on the ATH1 array to the latest (version 4.0) annotation showed that over 95% of the probe sets (based on version 2.0 annotation) still fully represented their original target genes.
A novel calmodulin‐binding protein functions as a negative regulator of osmotic stress tolerance in Arabidopsis thaliana seedlings
Authors: Perruc Elian , Charpenteau Martine , Ramirez Bertha Cecilia , Jauneau Alain , Galaud Jean‐Philippe , Ranjeva Raoul , Ranty Benoît 
Published: April 2004

SummaryA clone for a novel Arabidopsisthaliana calmodulin (CaM)‐binding protein of 25 kDa (AtCaMBP25) has been isolated by using a radiolabelled CaM probe to screen a cDNA expression library derived from A. thaliana cell suspension cultures challenged with osmotic stress. The deduced amino acid sequence of AtCaMBP25 contains putative nuclear localization sequences and shares significant degree of similarity with hypothetical plant proteins only. Fusion of the AtCaMBP25 coding sequence to reporter genes targets the hybrid protein to the nucleus. Bacterially expressed AtCaMBP25 binds, in a calcium‐dependent manner, to a canonical CaM but not to a less conserved isoform of the calcium sensor. AtCaMBP25 is encoded by a single‐copy gene, whose expression is induced in Arabidopsis seedlings exposed to dehydration, low temperature or high salinity. Transgenic plants overexpressing AtCaMBP25 exhibits an increased sensitivity to both ionic (NaCl) and non‐ionic (mannitol) osmotic stress during seed germination and seedling growth. By contrast, transgenic lines expressing antisense AtCaMBP25 are significantly more tolerant to mannitol and NaCl stresses than the wild type. Thus, the AtCaMBP25 gene functions as a negative effector of osmotic stress tolerance and likely participates in stress signal transduction pathways.
An Arabidopsis dynamin‐related protein, DRP3A, controls both peroxisomal and mitochondrial division
Authors: Mano Shoji , Nakamori Chihiro , Kondo Maki , Hayashi Makoto , Nishimura Mikio 
Published: April 2004

SummaryPeroxisomes undergo dramatic changes in size, shape, number, and position within the cell, but the division process of peroxisomes has not been characterized. We screened a number of Arabidopsis mutants with aberrant peroxisome morphology (apm mutants). In one of these mutants, apm1, the peroxisomes are long and reduced in number, apparently as a result of inhibition of division. We showed that APM1 encodes dynamin‐related protein 3A (DRP3A), and that mutations in APM1/DRP3A also caused aberrant morphology of mitochondria. The transient expression analysis showed that DRP3A is associated with the cytosolic side of peroxisomes. These findings indicate that the same dynamin molecule is involved in peroxisomal and mitochondrial division in higher plants. We also report that the growth of Arabidopsis, which requires the cooperation of various organelles, including peroxisomes and mitochondria, is repressed in apm1, indicating that the changes of morphology of peroxisomes and mitochondria reduce the efficiency of metabolism in these organelles.
DISTORTED2 encodes an ARPC2 subunit of the putative Arabidopsis ARP2/3 complex
Authors: El‐Din El‐Assal Salah , Le Jie , Basu Dipanwita , Mallery Eileen L. , Szymanski Daniel B. 
Published: April 2004

Summary Arabidopsis trichomes are unicellular, branched structures that have highly constrained requirements for the cytoskeleton. The ‘distorted group’ genes function downstream from microtubule‐based branch initiation, and are required during the actin‐dependent phase of polarized stalk and branch expansion. Of the eight known ‘distorted group’ genes, a subset encode homologs of ARP2/3 complex subunits. In eukaryotic cells, the seven‐protein ARP2/3 complex nucleates actin filament networks that push on the plasma membrane and organelles. In plants cells, the existence and function of an ARP2/3 complex is unclear. In this paper, we report that DISTORTED2 (DIS2) encodes a paralogue of the ARP2/3 complex subunit ARPC2. DIS2 has ARPC2 activity, based on its ability to rescue the growth defects of arpc2 (arc35Δ) null yeast cells. Like known ARPC2s, DIS2 physically interacts with ARPC4. Mutations in DIS2 cause a distorted trichome phenotype, defects in cell–cell adhesion, and a modest reduction in shoot FW. The actin cytoskeleton in dis2 trichomes is extensive, but developing branches fail to generate and maintain highly organized cytoplasmic actin bundles.
Induction of ASCORBATE PEROXIDASE 2 expression in wounded Arabidopsis leaves does not involve known wound‐signalling pathways but is associated with changes in photosynthesis
Authors: Chang Christine Chi‐Chen , Ball Louise , Fryer Michael J. , Baker Neil R. , Karpinski Stanislaw , Mullineaux Philip M. 
Published: April 2004

Summary ASCORBATE PEROXIDASE 2 (APX2) encodes a key enzyme of the antioxidant network. In excess light‐stressed Arabidopsis leaves, photosynthetic electron transport (PET), hydrogen peroxide (H2O2) and abscisic acid (ABA) regulate APX2 expression. Wounded leaves showed low induction of APX2 expression, and when exposed to excess light, APX2 expression was increased synergistically. Signalling pathways dependent upon jasmonic acid (JA), chitosan and ABA were not involved in the wound‐induced expression of APX2, but were shown to require PET and were preceded by a depressed rate of CO2 fixation. This led to an accumulation of H2O2 in veinal tissue. Diphenyl iodonium (DPI), which has been shown previously to be a potent inhibitor of H2O2 accumulation in the veins of wounded leaves, prevented induction of APX2 expression probably by inhibition of PET. Thus, the weak induction of APX2 expression in wounded leaves may require H2O2 and PET only. As in other environmental stresses, wounding of leaves resulted in decreased photosynthesis leading to increased reactive oxygen species (ROS) production. This may signal the induction of many ‘wound‐responsive’ genes not regulated by JA‐dependent or other known JA‐independent pathways.
The Lumbosacral Junction in Working German Shepherd Dogs – Neurological and Radiological Evaluation
Authors: Scharf G. , Steffen F. , Grünenfelder F. , Morgan J. P. , Flückiger M. 
Published: April 2004

SummaryThe clinical and radiological incidence of lumbosacral (LS) disease was studied on 57 German Shepherd dogs (GSDs) used in active service. The study included a clinical history, a neurological examination, and plain radiographs of the caudal lumbar vertebrae. The neurological examinations revealed lower back pain and/or neural deficits in 21 dogs, of which 14 had a history of pain or pelvic gait abnormalities. Radiographic findings were spondylosis at L7–S1, degeneration of L7–S1 disc, LS malalignment, transitional LS vertebrae and/or primary spinal canal stenosis in 15 dogs with neurological abnormalities and/or back pain and in 18 dogs with no clinical signs. No correlation between the neurological and the radiographic findings were found. This study demonstrates that even prominent radiographic LS abnormalities are of minimal value in the evaluation of LS disease in the GSD.
Effect of a Dietary n‐6 Polyunsaturated Fatty Acid Supplement on Distinct Immune Functions of Goats
Authors: Thanasak J. , Rutten V. P. M. G. , Schonewille J. Th. , Hoek A. , Beynen A. C. , Noordhuizen J. P. T. M. , Müller K. E. 
Published: April 2004

SummaryThe aim of this study was to investigate whether dietary n‐6 polyunsaturated fatty acids (PUFA) alter immune functions as lymphocyte blastogenesis, expression of lymphocyte and monocyte markers, and cell adhesion molecules of the integrin family in goats. Dutch White castrated male goats received a diet either rich in olive oil (control group, n = 4) or rich in corn oil (test group, n = 4) over a period of 3 weeks. The animals in the test group had significantly higher linoleic acid (LA, 18:2n‐6) levels in plasma on days 7, 14 and 21 of the diet than control animals. This was also true for washed erythrocyte membranes at day 21. A significant reduction in the percentage of α‐4 integrin (CD49d) expressing lymphocytes was observed in goats fed LA rich corn oil at day 21. However, no changes were observed in either lymphocyte proliferative responses to ConA and PHA or the expression of other lymphocyte/monocyte markers. In conclusion, feeding corn oil rich in LA caused significant increases in the proportion of LA in the fatty acid composition of plasma and erythrocyte membranes and was accompanied by a significant decrease of the adhesion molecule α‐4 integrin (CD49d) on lymphocytes but not on monocytes.
Pathological, Clinical and Mycological Findings in Experimental Aspergillosis Infections of Starlings
Authors: Atasever A. , Gümüşsoy K. S. 
Published: April 2004

SummaryA group of 24 wild starlings (Sturnus vulgaris), in undefined age categories but at least post‐pubertal, constituted the material of this study. Six starlings were kept as a control group and 18 starlings served as the infection group. The starlings in the infection group were infected with inoculums of 1.35 × 106/0.2 ml Aspergillus fumigatus via intratracheal route whereas the control group was administered only placebo in the same way. Six, four, two, four and two birds died on 2, 3, 4, 5 and 6 days post inoculation respectively. At the necropsy of the dead birds, caseous foci were determined in the lungs, on the air sacks, myocardium, thoracic wall and abdominal serosa. In the histopathological examination of the white‐yellowish caseous foci ranging from pinhead to chick pean in size, necrotic granulomatous foci consisting of macrophages, heterophil leukocytes and gigant cells encapsulated with a fibrous tissue were observed. Hyphae and spores of A. fumigatus were determined in these foci using the Gridley staining method.
Resistance and Agility Training Reduce Fall Risk in Women Aged 75 to 85 with Low Bone Mass: A 6‐Month Randomized, Controlled Trial*
Authors: Liu‐Ambrose Teresa , Khan Karim M. , Eng Janice J. , Janssen Patti A. , Lord Stephen R. , Mckay Heather A. 
Published: April 2004

Objectives: To compare the effectiveness of group resistance and agility‐training programs in reducing fall risk in community‐dwelling older women with low bone mass.Design: A randomized, controlled, single‐blind 25‐week prospective study with assessments at baseline, midpoint, and trial completion.Setting: Community center.Participants: Community‐dwelling women aged 75 to 85 with low bone mass.Intervention: Participants were randomly assigned to one of three groups: resistance training (n=32), agility training (n=34), and stretching (sham) exercises (n=32). The exercise classes for each study arm were held twice weekly.Measurements: The primary outcome measure was fall risk (derived from weighted scores from tests of postural sway, reaction time, strength, proprioception, and vision), as measured using a Physiological Profile Assessment (PPA). Secondary outcome measures were ankle dorsiflexion strength, foot reaction time, and Community Balance and Mobility Scale score.Results: Attendance at the exercise sessions for all three groups was excellent: resistance training (85.4%), agility training (87.3%), and stretching program (78.8%). At the end of the trial, PPA fall‐risk scores were reduced by 57.3% and 47.5% in the resistance and agility‐training groups, respectively, but by only 20.2% in the stretching group. In the resistance and agility groups, the reduction in fall risk was mediated primarily by improved postural stability, where sway was reduced by 30.6% and 29.2%, respectively. There were no significant differences between the groups for the secondary outcomes measures. Within the resistance‐training group, reductions in sway were significantly associated with improved strength, as assessed using increased squat load used in the exercise sessions.Conclusion: These findings support the implementation of community‐based resistance and agility‐training programs to reduce fall risk in older women with low bone mass. Such programs may have particular public health benefits because it has been shown that this group is at increased risk of falling and sustaining fall‐related fractures.
Efficacy and Safety of Rofecoxib 12.5 mg Versus Nabumetone 1,000 mg in Patients with Osteoarthritis of the Knee: A Randomized Controlled Trial
Authors: Kivitz Alan J. , Greenwald Maria W. , Cohen Stanley B. , Polis Adam B. , Najarian Daryl K. , Dixon Mary E. , Moidel Robert A. , Green Jerry A. , Baraf Herbert S. B. , Petruschke Richard A. , Matsumoto Alan K. , Geba Gregory P. ,   for the Protocol 085,   study investigators
Published: April 2004

Objectives: To evaluate the use of starting doses of rofecoxib and nabumetone in patients with osteoarthritis (OA) of the knee.Design: A 6‐week, randomized, parallel‐group, double‐blind, placebo‐controlled study.Setting: One hundred thirteen outpatient sites in the United States.Participants: A total of 1,042 male and female patients aged 40 and older with OA of the knee (>6 months).Interventions: Rofecoxib 12.5 mg once a day (n=424), nabumetone 1,000 mg once a day (n=410), or placebo (n=208) for 6 weeks.Measurements: The primary efficacy endpoint was patient global assessment of response to therapy (PGART) over 6 weeks, which was also specifically evaluated over the first 6 days. The main safety measure was adverse events during the 6 weeks of treatment.Results: The percentage of patients with a good or excellent response to therapy as assessed using PGART at Week 6 was significantly higher with rofecoxib (55.4%) than nabumetone (47.5%; P=.018) or placebo (26.7%; P<.001 vs rofecoxib or nabumetone). Median time to first report of a good or excellent PGART response was significantly shorter in patients treated with rofecoxib (2 days) than with nabumetone (4 days, P=.002) and placebo (>5 days, P<.001) (nabumetone vs placebo; P=.007). The safety profiles of rofecoxib and nabumetone were generally similar, including gastrointestinal, hypertensive, and renal adverse events.Conclusion: Rofecoxib 12.5 mg daily demonstrated better efficacy over 6 weeks of treatment and quicker onset of OA efficacy over the first 6 days than nabumetone 1,000 mg daily. Both therapies were generally well tolerated.
Treatment of Nursing Home Residents with Dementia and Lower Respiratory Tract Infection in the United States and the Netherlands: An Ocean Apart
Authors: Van Der Steen Jenny T. , Kruse Robin L. , Ooms Marcel E. , Ribbe Miel W. , Van Der Wal Gerrit , Heintz Lawrence L. , Mehr David R. 
Published: April 2004

Objectives: To compare treatment of nursing home residents with dementia and lower respiratory tract infection (LRI) in Missouri and the Netherlands.Design: Two separate but simultaneous prospective cohort studies.Setting: Nursing homes in Missouri (n=36) and the Netherlands (n=61).Participants: Selected residents (701 from Missouri and 551 from the Netherlands) diagnosed with LRI and dementia.Measurements: Treatment, dementia severity, symptoms and signs of LRI, and general health condition were recorded at the time of diagnosis of LRI. Death was monitored at follow‐up. Treatment and mortality, stratified for dementia severity, are reported.Results: Treatment of nursing home‐acquired LRI in Missouri residents involved a larger number of antibiotics, more frequent hospitalization, and greater use of intravenous antibiotics and rehydration therapy than in Dutch residents of equal dementia severity. Furthermore, for Missouri residents, intensive interventions were more often provided irrespective of severe dementia. By contrast, in both countries, treatments to relieve symptoms of LRI were provided for only a minority of residents. Dutch mortality rates were higher overall.Conclusion: Care for U.S. nursing home residents with LRI and dementia is more aggressive than care for Dutch residents, particularly in residents with severe dementia. These results are relevant to the debate on optimal care in relation to curative or palliative treatment goals.