bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extreme Population-Dependent Linkage Disequilibrium Detected in an Inbreeding Plant Species, Hordeum vulgare
Authors: Caldwell Katherine S , Russell Joanne , Langridge Peter , Powell Wayne 
Published: October 2005

Abstract
In human genetics a detailed knowledge of linkage disequilibrium (LD) is considered a prerequisite for effective population-based, high-resolution gene mapping and cloning. Similar opportunities exist for plants; however, differences in breeding system and population history need to be considered. Here we report a detailed study of localized LD in different populations of an inbreeding crop species. We measured LD between and within four gene loci within the region surrounding the hardness locus in three different gene pools of barley (Hordeum vulgare). We demonstrate that LD extends to at least 212 kb in elite barley cultivars but is rapidly eroded in related inbreeding ancestral populations. Our results indicate that haplotype-based sequence analysis in multiple populations will provide new opportunities to adjust the resolution of association studies in inbreeding crop species.
Effect of Mutation of the Tetratricopeptide Repeat and Asparatate-Proline 2 Domains of Sti1 on Hsp90 Signaling and Interaction in Saccharomyces cerevisiae
Authors: Flom Gary , Weekes Janae , Williams Julia J , Johnson Jill L 
Published: October 2005

Abstract
Through simultaneous interactions with Hsp70 and Hsp90 via separate tetratricopeptide repeat (TPR) domains, the cochaperone protein Hop/Sti1 has been proposed to play a critical role in the transfer of client proteins from Hsp70 to Hsp90. However, no prior mutational analysis demonstrating a critical in vivo role for the TPR domains of Sti1 has been reported. We used site-directed mutagenesis of the TPR domains combined with a genetic screen to isolate mutations that disrupt Sti1 function. A single amino acid alteration in TPR2A disrupted Hsp90 interaction in vivo but did not significantly affect function. However, deletion of a conserved residue in TPR2A or mutations in the carboxy-terminal DP2 domain completely disrupted Sti1 function. Surprisingly, mutations in TPR1, previously shown to interact with Hsp70, were not sufficient to disrupt in vivo functions unless combined with mutations in TPR2B, suggesting that TPR1 and TPR2B have redundant or overlapping in vivo functions. We further examined the genetic and physical interaction of Sti1 with a mutant form of Hsp90, providing insight into the importance of the TPR2A domain of Sti1 in regulating Hsp90 function.
The twisted Gene Encodes Drosophila Protein O-Mannosyltransferase 2 and Genetically Interacts With the rotated abdomen Gene Encoding Drosophila Protein O-Mannosyltransferase 1
Authors: Lyalin Dmitry , Koles Kate , Roosendaal Sigrid D , Repnikova Elena , Van Wechel Laura , Panin Vladislav M 
Published: October 2005

Abstract
The family of mammalian O-mannosyltransferases includes two enzymes, POMT1 and POMT2, which are thought to be essential for muscle and neural development. Similar to mammalian organisms, Drosophila has two O-mannosyltransferase genes, rotated abdomen (rt) and DmPOMT2, encoding proteins with high homology to their mammalian counterparts. The previously reported mutant phenotype of the rt gene includes a clockwise rotation of the abdomen and defects in embryonic muscle development. No mutants have been described so far for the DmPOMT2 locus. In this study, we determined that the mutation in the twisted (tw) locus, tw1, corresponds to a DmPOMT2 mutant. The twisted alleles represent a complementation group of recessive mutations that, similar to the rt mutants, exhibit a clockwise abdomen rotation phenotype. Several tw alleles were isolated in the past; however, none of them was molecularly characterized. We used an expression rescue approach to confirm that tw locus represents DmPOMT2 gene. We found that the tw1 allele represents an amino acid substitution within the conserved PMT domain of DmPOMT2 (TW) protein. Immunostaining experiments revealed that the protein products of both rt and tw genes colocalize within Drosophila cells where they reside in the ER subcellular compartment. In situ hybridization analysis showed that both genes have essentially overlapping patterns of expression throughout most of embryogenesis (stages 8–17), while only the rt transcript is present at early embryonic stages (5 and 6), suggesting its maternal origin. Finally, we analyzed the genetic interactions between rt and tw using several mutant alleles, RNAi, and ectopic expression approaches. Our data suggest that the two Drosophila O-mannosyltransferase genes, rt and tw, have nonredundant functions within the same developmental cascade and that their activities are required simultaneously for possibly the same biochemical process. Our results establish the possibility of using Drosophila as a model system for studying molecular and genetic mechanisms of protein O-mannosylation during development.
The mop1 (mediator of paramutation1) Mutant Progressively Reactivates One of the Two Genes Encoded by the MuDR Transposon in Maize
Authors: Woodhouse Margaret Roth , Freeling Michael , Lisch Damon 
Published: October 2005

Abstract
Transposons make up a sizable portion of most genomes, and most organisms have evolved mechanisms to silence them. In maize, silencing of the Mutator family of transposons is associated with methylation of the terminal inverted repeats (TIRs) surrounding the autonomous element and loss of mudrA expression (the transposase) as well as mudrB (a gene involved in insertional activity). We have previously reported that a mutation that suppresses paramutation in maize, mop1, also hypomethylates Mu1 elements and restores somatic activity to silenced MuDR elements. Here, we describe the progressive reactivation of silenced mudrA after several generations in a mop1 background. In mop1 mutants, the TIRA becomes hypomethylated immediately, but mudrA expression and significant somatic reactivation is not observed until silenced MuDR has been exposed to mop1 for several generations. In subsequent generations, individuals that are heterozygous or wild type for the Mop1 allele continue to exhibit hypomethylation at Mu1 and mudrA TIRs as well as somatic activity and high levels of mudrA expression. Thus, mudrA silencing can be progressively and heritably reversed. Conversely, mudrB expression is never restored, its TIR remains methylated, and new insertions of Mu elements are not observed. These data suggest that mudrA and mudrB silencing may be maintained via distinct mechanisms.
Pain Evaluation in Patients Receiving Intravenous Patient‐Controlled Analgesia After Surgery
Authors: Larijani Ghassem E. , Sharaf Imran , Warshal David P. , Marr Alex , Gratz Irwin , Goldberg Michael E. 
Published: October 2005

Study Objective. To evaluate the effectiveness of intravenous patient‐controlled analgesia (PCA) in patients after surgery.Design. Prospective, observational study.Setting. University teaching hospital.Patients. Sixty patients with American Society of Anesthesiologists physical status I–III receiving intravenous PCA for postoperative pain. The PCA was programmed to deliver morphine 1 mg or hydromorphone 0.1–0.2 mg, with a lockout interval of 10 and 6 minutes for 80% and 20% of the patients, respectively.Measurements and Main Results. Patients were asked, up to 4 times during PCA use and once within 4 hours after PCA use, to describe and rate their intensity of pain at rest and after activity. During the first 12 hours of intravenous PCA use, 75% of the patients reported moderate‐to‐severe pain (≥ 5 on a verbal numeric rating scale) at rest, 80% after activity. Corresponding values, respectively, were 33% and 72% for the 12–24‐hour period, 43% and 76% for the 24–36‐hour period, and 36% and 64% for the 36–48‐hour period of intravenous PCA use. Within 4 hours of stopping PCA, 30% and 58% of the patients had moderate‐to‐severe pain at rest and after activity, respectively. In approximately 50% of patients, presence of pain was described with words signifying sensory and affective dimensions of pain. Pain control was rated as good or very good by 54% of patients during the first 12 hours of intravenous PCA. Ratings of pain control tended to improve with time.Conclusion. Successful postoperative pain management using PCA is difficult to achieve on a consistent basis unless treatment is individualized. Our data support the hypothesis that small fixed doses fail to achieve adequate relief in many patients.
Aspergillus Susceptibility Testing in Patients with Cancer and Invasive Aspergillosis: Difficulties in Establishing Correlation Between In Vitro Susceptibility Data and the Outcome of Initial Amphotericin B Therapy
Authors: Lionakis Michail S. , Lewis Russell E. , Chamilos Georgios , Kontoyiannis Dimitrios P. 
Published: October 2005

Study Objectives. As the failure of amphotericin B therapy in patients with invasive aspergillosis often exceeds 50%, we sought to determine the relationship between in vitro amphotericin B resistance and clinical failure of amphotericin B against invasive aspergillosis.Design. Retrospective study.Setting. University cancer center.Patients. One hundred sixteen patients with cancer and invasive aspergillosis.Measurements and Main Results. The correlation between in vitro amphotericin B susceptibility, defined by both the National Committee for Clinical Laboratory Standards and Etest methods, and other prognostic factors with failure of initial amphotericin B therapy was retrospectively evaluated. Data for correlation could be clearly assessed in only 18 (16%) of the 116 patients. Admission to the intensive care unit was the only prognostic factor associated with failure of initial amphotericin B treatment in these 18 patients (p=0.01).Conclusions. Several important obstacles underlie the correlation of in vitro susceptibility testing with in vivo efficacy of individual antifungal agents in the treatment of invasive aspergillosis. Such correlations could be determined in only a small subset of patients.
Impact of a Criteria‐Based Reimbursement Policy on the Use of Respiratory Drugs Delivered by Nebulizer and Health Care Services Utilization in Nova Scotia, Canada
Authors: Kephart George , Sketris Ingrid S. , Bowles Susan K. , Richard Marc E. , Cooke Charmaine A. 
Published: October 2005

Background. In February 2000, the Nova Scotia Seniors' Pharmacare Program announced a change in the reimbursement of respiratory drugs that added specific reimbursement criteria for wet nebulization therapy. Policy implementation coincided with multifaceted interventions to assist patients and providers with the change.Objective. To assess the impact of the new policy and associated interventions on the use of wet nebulization and portable inhaler delivery systems of respiratory drugs and on the utilization of health services.Methods. The administrative claims database identified all beneficiaries (age ≥ 65 yrs) who received at least one respiratory drug prescription in the 12 months before the study. These patients were then grouped into the wet nebulization cohort or the control cohort receiving a metered‐dose or a dry‐powder inhaler. The study period was from April 1998–February 2002. Use of respiratory drugs, physician visits, and hospitalizations were compared between study cohorts using an interrupted time‐series design.Results. A sharp decrease was noted in use of wet nebulization after the policy announcement, along with an increase in use of short‐acting β2‐agonists and anticholinergic agents delivered by metered‐dose or dry‐powder inhaler. From December 1999 to December 2001, in the heavy wet nebulization cohort (a subset of the wet nebulization cohort), wet nebulization use dropped from 100% to 35%; in the wet nebulization cohort, wet nebulization use decreased from 67% to 20%. Rates of spacer device use were 42%, 31%, and 17% in the heavy wet nebulization, wet nebulization, and control cohorts, respectively, in December 2001. Rates of general practitioner visits and hospitalizations for respiratory conditions did not increase in the intervention cohorts after the policy announcement. In fact, relative to the control cohort, health services use in response to the policy and interventions in the wet nebulization cohort decreased.Conclusion. The reimbursement policy resulted in decreased use of respiratory drugs delivered by wet nebulization without a negative impact on general practitioner visits and hospitalizations for respiratory conditions.
Biocompatibility of Materials
Authors: Xiang Zhou , Spector Myron 
Published: October 2005

Abstract
Most surgical specialties have been revolutionized by the introduction of implantable devices. These advances have been founded, in large part, on biomaterials science and engineering. One of the critical determinants of the performance of the device relates to the compatibility of the tissue response to the materials of fabrication with the required function of the implant. Implantation of the device requires the production of a surgical wound, and in this respect the tissue response to the implant may be looked upon as the modification of the wound healing response by the very presence of the implant. In vascularized tissues the surgical wound elicits an inflammatory process that can be considered part of the natural course of healing. The end result of the healing process is tissue similar to that naturally occurring at the site (the process of “regeneration”) or scar tissue (the process of “repair”), which in many tissues and organs comprises fibrous tissue. Infectious organisms when present serve as a persistent injurious agent that prolongs and can further incite the inflammatory process, not only jeopardizing the performance of the implant but threatening the life of the individual. The principles of biocompatibility including the mechanisms underlying inflammatory and infectious processes apply regardless of the type of material of fabrication of the implant. There are, however, features of the biomaterials that can affect certain aspects of these processes. It can therefore be instructive to also consider issues of biocompatibility in the context of the various classes of materials: metals, ceramics, and polymers.
Controlled Degradability of Polysaccharide Multilayer Films In Vitro and In Vivo
Authors: Picart C. , Schneider A. , Etienne O. , Mutterer J. , Schaaf P. , Egles C. , Jessel N. , Voegel J.‐C. 
Published: October 2005

AbstractThis article demonstrates the possibility of tuning the degradability of polysaccharide multilayer films in vitro and in vivo. Chitosan and hyaluronan multilayer films (CHI/HA) were either native or crosslinked using a water soluble carbodiimide, 1‐ethyl‐3‐(3‐dimethylamino‐propyl)carbodiimide (EDC) at various concentrations in combination with N‐hydroxysulfosuccinimide. The in‐vitro degradation of the films in contact with lysozyme and hyaluronidase was followed by quartz crystal microbalance measurements, fluorimetry, and confocal laser scanning microscopy after labeling of the chitosan with fluorescein isothiocyanate (CHIFITC). The native films were subjected to degradation by these enzymes, and the crosslinked films were more resistant to enzymatic degradation. Films made of chitosan of medium molecular weight were more resistant than films made of chitosan‐oligosaccharides. The films were also brought in contact with plasma, which induced a change in film structure for the native film but did not have any effect on the crosslinked film. The in‐vitro study shows that macrophages can degrade all types of films and internalize the chitosan. The in‐vivo degradation of the films implanted in mouse peritoneal cavity for a week again showed an almost complete degradation of the native films, whereas the crosslinked films were only partially degraded. Taken together, these results suggest that polysaccharide multilayer films are of potential interest for in‐vivo applications as biodegradable coatings, and that degradation can be tuned by using chitosan of different molecular weights and by controlling film crosslinking.
Supported Cell‐Membrane Sheets for Functional Fluorescence Imaging of Membrane Proteins
Authors: Perez J.‐B. , Martinez K. L. , Segura J.‐M. , Vogel H. 
Published: October 2005

AbstractCell‐membrane sheets suitable for in‐vitro functional fluorescence studies have been prepared by direct detachment from cell membranes using poly‐L‐lysine‐coated glass slides. The resulting transferred planar membranes conserve the composition as well as most properties of the original plasma membrane; in particular, both membrane leaflets remain fluid, allowing the investigation of diffusion properties of different cellular membrane components. Measurements on membrane sheets offer several advantages as compared to those on living cells. First, access to the intracellular leaflet is obtained, in particular to the intracellular part of membrane proteins and to cytoplasmic membrane‐associated proteins, opening the possibility of labeling them and modulating their properties with membrane impermeable compounds. Second, the cytosolic autofluorescence of the cells is absent, allowing ultrasensitive measurements to be performed down to the single‐molecule level. Third, the complexity of cellular processes occurring at the plasma membrane can be reduced, allowing the sequential investigation of selected events from complex biochemical networks. These advantages are illustrated by ligand‐binding studies on the α1b‐adrenergic receptor. Our results indicate that supported membrane sheets might find a broad application as an ideal in‐vitro system for the elucidation of complex signaling pathways.
Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?
Authors: Heike Carrie L. , Cunningham Michael L. , Steiner Robert D. , Wenkert Deborah , Hornung Robin L. , Gruss Joseph S. , Gannon Francis H. , McAlister William H. , Mumm Steven , Whyte Michael P. 
Published: October 2005

AbstractEpidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right‐sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. Review of the literature concerning ENS–associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF‐23) level was elevated, likely functioning as a “phosphatonin,” yet no activating mutations inGNASpreviously reported in fibrous dysplasia or McCune–Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF‐23 in ENS. © 2005 Wiley‐Liss, Inc.
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene
Authors: Szczaluba K. , Hilbert K. , Obersztyn E. , Zabel B. , Mazurczak T. , Kozlowski K. 
Published: October 2005

AbstractDu Pan syndrome is a rare acromesomelic dysplasia with characteristic clinical and radiographic findings. It is inherited as an autosomal recessive trait. Almost all the patients reported have been from Muslim countries. We report on a female and her child with Du Pan syndrome from a Caucasian, Polish family. Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. A possible synergistic effect of the cis‐acting mutations located in the active domain of the mature CDMP1 protein is likely to be responsible for the clinical expression of the disorder. © 2005 Wiley‐Liss, Inc.
A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized HOXD13 polyalanine expansions
Authors: Kjaer Klaus W. , Hansen Lars , Eiberg Hans , Utkus Algirdas , Skovgaard Lene T. , Leicht Pernille , Opitz John M. , Tommerup Niels 
Published: October 2005

AbstractA phenotype–genotype correlation was previously described for carriers of different sized of polyalanine expansions in HOXD13. We report on a detailed comparison of 55 members (∼220 limbs) from 4 Danish families with duplications of 21 or 27 bp, expanding the polyalanine repeat from 15 to 22 and 24 residues, respectively. Two of these were previously described by Danish pioneers of human genetics, Tage Kemp and Oluf Thomsen. A clinical score was assigned to each limb based on manifestations assumed to represent different degrees of a duplication defect in hand rays 3–4 and foot rays 4–5. The length of metacarpals and phalangeal bones in rays 1, 2, and 5 was measured on hand radiographs and converted to Z‐scores. The relative difference between corresponding right and left bones and directional, total, and fluctuating asymmetry was calculated for each individual. All of these parameters were compared between carriers of the +9 alanine expansion, the +7 alanine expansion, and non‐mutation carriers with affected parents from the two families. Upper limb scores and the rate of abnormal bones (>2SD) were significantly higher in the first group than in the others. The first metacarpal and the middle phalanx of the little finger were significantly shorter, and the proximal phalanx of the index finger was significantly longer in this group than in the others. An increased level of total and fluctuating asymmetry was observed in long expansion carriers. Thus, our data have added evidence to the phenotype–genotype correlation previously reported, which was further extended to include lesser involvement of bones in ray 1, 2, and 5. © 2005 Wiley‐Liss, Inc.
Hypertrichosis in patients with SURF1 mutations
Authors: Østergaard Elsebet , Bradinova Irena , Ravn Susanne Holst , Hansen Flemming Juul , Simeonov Emil , Christensen Ernst , Wibrand Flemming , Schwartz Marianne 
Published: October 2005

AbstractWe present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis. © 2005 Wiley‐Liss, Inc.
A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
Authors: Bao Liming , Schorry Elizabeth K. 
Published: October 2005

AbstractWe report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12;16)(q24.31;q24.3), resulting in trisomy 12q24.31 → qter and 16q subtelomere deletion. By comparing phenotypes of the girl and the father, we suggest that clinical features related to trisomy 12q24.31 → qter are mild development delays, mild mental retardation, broad forehead, simplified ear helices, small mouth, and thin lips. The mother who has a normal karyotype has moderate mental retardation and a facial appearance similar to the girl. Both the girl and the mother have distinctive short, curly, and kinky hair. We suspect a possible new syndrome in the maternal family with mental retardation and curly, kinky hair. Thus, this patient likely inherited two discreet conditions causing mental retardation. © 2005 Wiley‐Liss, Inc.