gebhart/patrepeval huggingface dataset:
Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation (2001)

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B. To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. In the process of screening the above cohort of patients as well as other patients for CMT-causative mutations, we identified several previously unreported mutant alleles: two for connexin 32, three for myelin protein zero, and two for peripheral myelin protein 22. The peripheral myelin protein 22 mutation W28R was associated with CMT1 and profound deafness. One patient with a CMT2 clinical phenotype had three myelin protein zero mutations (I89N+V92M+I162M). Because one-third of the mutations we report arose de novo and thereby caused chronic sporadic neuropathy, we conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.
Human monoclonal antibodies specific for the tumour associated Thomsen-Friedenreich antigen (1997)

Five hybridomas producing human monoclonal antibodies (MAbs) of IgA and IgM isotypes reacting with the tumour associated TF antigen were generated after in vitro immunisation or antigen specific isolation of normal peripheral blood B cells using asialoglycophorin, a TF containing antigen. All 5 antibodies produced by the hybridomas bound strongly to asialoglycophorin and to synthetic glycoprotein containing the TF-epitope, with preference to the beta form (Galb1-3GalNAc-beta-O-CETE-BSA) as compared to the alpha form (Galbl-3GalNAc-alpha-O-APE-HSA) in ELISA. Flow cytometry analysis revealed binding to carcinoma cell lines of different origin such as breast, colon, pancreas, ovary, bladder, lung and, in addition, to some tumour cell lines of haematopoietic origin. Immunohistochemical analysis of tumour tissues revealed staining patterns typical for mucins, and the antibodies were found to bind to glycoproteins among the MUC-1 positive high m.w. fraction shed from a TF antigen positive ovarian carcinoma cell line.
Satellite cell-mediated angiogenesis in vitro coincides with a functional hypoxia-inducible factor pathway (2009)

Muscle regeneration involves the coordination of myogenesis and revascularization to restore proper muscle function. Myogenesis is driven by resident stem cells termed satellite cells (SC), whereas angiogenesis arises from endothelial cells and perivascular cells of preexisting vascular segments and the collateral vasculature. Communication between myogenic and angiogenic cells seems plausible, especially given the number of growth factors produced by SC. To characterize these interactions, we developed an in vitro coculture model composed of rat skeletal muscle SC and microvascular fragments (MVF). In this system, isolated epididymal MVF suspended in collagen gel are cultured over a rat SC monolayer culture. In the presence of SC, MVF exhibit greater indices of angiogenesis than MVF cultured alone. A positive dose-dependent effect of SC conditioned medium (CM) on MVF growth was observed, suggesting that SC secrete soluble-acting growth factor(s). Next, we specifically blocked VEGF action in SC CM, and this was sufficient to abolish satellite cell-induced angiogenesis. Finally, hypoxia-inducible factor-1alpha (HIF-1alpha), a transcriptional regulator of VEGF gene expression, was found to be expressed in cultured SC and in putative SC in sections of in vivo stretch-injured rat muscle. Hypoxic culture conditions increased SC HIF-1alpha activity, which was positively associated with SC VEGF gene expression and protein levels. Collectively, these initial observations suggest that a heretofore unexplored aspect of satellite cell physiology is the initiation of a proangiogenic program.
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation (2004)

<h3>ABSTRACT</h3> In many cooperatively breeding societies non-breeding individuals help to rear the offspring of breeders. The physiological mechanisms that regulate such cooperative helping behavior are poorly understood, but may have been co-opted, during the evolution of cooperative breeding, from pre-existing mechanisms that regulated parental care. Key among these may be a role for prolactin. Here we investigate whether natural variation in circulating prolactin levels predicts both parental and helper contributions to nestling provisioning in cooperatively breeding white-browed sparrow weavers, <i>Plocepasser mahali</i>. In sparrow weaver groups, a single dominant pair monopolize reproduction and non-breeding subordinates help with nestling feeding. We show that: (i) among parents, dominant females feed nestlings at higher rates, make longer provisioning visits and have higher prolactin levels than dominant males; and (ii) among subordinates, engaged in cooperative helping behavior, those within their natal groups feed nestlings at higher rates and have higher prolactin levels than immigrants. Moreover, continuous variation in prolactin levels positively predicts nestling-provisioning rates and mean provisioning visit durations when all bird classes are combined. These relationships are principally driven by differences among bird classes in both circulating prolactin levels and provisioning traits; the more limited within-class variation in prolactin and provisioning traits were not evidently correlated, highlighting a likely role for additional mechanisms in the fine-scale regulation of care. Our findings broadly support the hypothesis that parental care and cooperative helping behavior are regulated by a common underlying mechanism and highlight the need for experimentation to now establish the causality of any role for prolactin.
Arabidopsis mutants showing an altered response to vernalization (1996)

Flowering in many plant species is accelerated by a long period of cold temperature, known as a vernalization period. This research investigates how this cold temperature signal is perceived by plant cells and the mechanism by which it influences the transition to flowering. Mutagenesis of the late-flowering, vernalization-responsive, Arabidopsis mutant, fca, has yielded five independent mutations (termed vrn mutations) conferring an altered vernalization response. Allelism tests showed that these mutations fall into at least three complementation groups defining three loci named VRN 1, 2 and 3. The vrn1 and vrn2 mutations did not affect the acclimation response as judged by expression of cold-induced transcripts and freezing tolerance assays. vrn1-1 affected the short-day vernalization response of Landsberg erecta and reduced the vernalization response of other late-flowering Arabidopsis mutants. The acceleration of flowering by GA3 was not affected by vrn1-1. The VRN 1 locus was mapped to chromosome 3.
Use of a Fluorogenic Septapeptide Matrix Metalloproteinase Assay to Assess Responses to Periodontal Treatment (2000)

These results indicate that monitoring patients by measurement of matrix metalloproteinase levels in gingival crevicular fluid with the quenched fluorescent substrate assay provides estimates of inflammatory status, periodontal destruction, and response to treatment, especially in more severe periodontitis lesions.
An evaluation of thread migration for exploiting distributed array locality (2003)

Thread migration is one approach to remote memory accesses on distributed memory parallel computers. In thread migration, threads of control migrate between processors to access data local to those processors, while conventional approaches tend to move data to the threads that need them. Migration approaches enhance spatial locality by making large address spaces local, but are less adept at exploiting temporal locality. Data-moving approaches, such as cached remote memory fetches or distributed shared memory, can use both types of locality. We present experimental evaluation of thread migration's ability to reduce the impact of remote array accesses across distributed-memory computers. Nomadic Threads uses compiler-generated fine-grain threads which either migrate to make data local or fetch cache lines, tolerating latency with multithreading. We compare these alternatives using various array access patterns.
Orthodontic Movement Induces High Numbers of Cells Expressing IFN-gamma at mRNA and Protein Levels (2000)

Cytokines are important signaling proteins that are liberated during immune challenges and exhibit many modulatory activities. However, their role in periodontal modeling during orthodontic tooth movement is not fully understood. The aim of this study was to analyze effects of mechanical force during orthodontic tooth movement, in the pressure zone, on the induction of interferon-gamma (IFN-gamma) as a proinflammatory cytokine of Th1 type and interleukin-4 (IL-4)/IL-10 as anti-inflammatory cytokines of Th2 type. In 12 Wistar rats 40-45 days old, the maxillary first molar was moved mesially by means of a closed coil spring for 3, 7, and 10 days. The contralateral side served as a control. IFN-gamma, IL-4, and IL-10 mRNA were determined by in situ, hybridization, and protein levels of IFN-gamma was measured by immunohistochemistry. Induction of IFN-gamma at both mRNA and protein levels was significantly higher on the experimental side than on the contralateral control side on day 3. The signal gradually became stronger on day 7 and remained high on day 10. Cytokines of the Th2 type (IL-4 and IL-10) were not detected at all examined time points in both pressure and contralateral control sides. Considering the potential immunoregulatory roles played by IFN-gamma, our data suggest that IFN-gamma may be involved in periodontium remodeling during orthodontic tooth movement.
Dendritic PARACEST contrast agents for magnetic resonance imaging (2007)

MRI contrast agents based on chemical exchange-dependent saturation transfer (CEST), such as Yb(III)DOTAM complexes, are highly suitable for pH mapping. In this paper, the synthesis of Yb(III)DOTAM-functionalized poly(propylene imine) dendrimers is described. The applicability of these dendritic PARACEST MRI agents for pH mapping has been evaluated on a 7 T NMR spectrometer and on a 3 T clinical MRI scanner. As expected, based on the different numbers of exchangeable amide protons, the lowest detectable concentration of the first and third generation dendritic PARACEST agents is by a respective factor of about 4 and 16 lower than that of a mononuclear reference complex. The pH dependence of the CEST effect observed for these compounds depends on the generation of the poly(propylene imine) dendrimer. Upon going to higher generations of the Yb(III)DOTAM-terminated dendrimer, a shift of the maximum CEST effect towards lower pH values was observed. This allows for a fine-tuning of the responsive pH region by varying the dendritic framework.
Effect of Controlled Local Acetylsalicylic Acid Release on in vitro Platelet Adhesion to Vascular Grafts (1994)

Thrombosis is the most serious acute problem for small diameter arterial bypass grafts. In this research, small diameter expanded polytetrafluoroethylene (e-PTFE) vascular grafts were coated with acetylsalicylic acid (ASA) loaded poly (d,l-lactide) (PLA) by a solvent casting method. The feasibility and efficacy of this approach were evaluated by ASA release studies and platelet adhesion tests. First, the ASA release kinetics were evaluated from the ASA/PLA coated vascular grafts in an in vitro steady flow loop model. ASA release was measured by a spectrophotometric technique. Finally, the efficacy of local ASA release to reduce in vitro canine platelet adhesion to grafts was determined with epifluorescent video microscopy and quantitative image analysis. The steady state release rates from the 5%, 10%, and 15% ASA/PLA coated grafts were 13.2 x 10(-5), 32.0 x 10(-5), and 41.5 x 10(-5) micrograms/cm2.sec, respectively. Platelet adhesion to 10% and 15% ASA/PLA coated grafts was reduced with respect to the control and 5% grafts for 10 days. Platelet adhesion to 5% ASA/PLA coated grafts was reduced with respect to controls at 2 and 10 days, but not initially.
Foot Ulcers (2000)

The role of the primary care physician in the evaluation, diagnosis, and management of pedal wounds is critical (Table 2). Patient education is essential for the reduction of risk factors and for the early recognition of foot complications. Careful assessment of vascular disease (leading to bypass surgery when indicated), evaluation and management of biomechanical abnormalities, and aggressive treatment of any infections are also required. Optimal management can reduce the number of major amputations, prevent infection, decrease the probability of ulceration, maintain skin integrity, and improve function. The multidisciplinary approach will provide a comprehensive treatment protocol that will increase the long-term viability of the foot.
Phosphodiesterase Type 5 Inhibitors for Pulmonary Arterial Hypertension (2009)

A 46-year-old-woman presents with exertional dyspnea and syncope and receives a diagnosis of idiopathic pulmonary arterial hypertension. Treatment with sildenafil is recommended. Sildenafil and tadalafil are phosphodiesterase type 5 inhibitors that ameliorate pulmonary arterial hypertension by increasing levels of cyclic guanosine monophosphate in the smooth-muscle cells of the pulmonary artery.
Review of Analytic Function Theory (2008)

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Expression of the mage gene family in primary and metastatic human breast cancer: Implications for tumor antigen‐specific immunotherapy (1995)

Some human tumors express known antigens that can be utilized as targets for specific immunotherapy. An absolute requirement for the efficacy of this therapeutic strategy is an adequate expression of the candidate antigen by all cells of the primary and metastatic tumor. To examine the presence and distribution of tumor-associated antigens in metastatic breast cancer, we used PCR analysis and ethidium bromide staining to test the expression of genes of the MAGE family in 28 primary tumors and related metastatic samples. Overall, samples obtained from 7 of 28 patients revealed positive. However, 2 of 3 primary tumors positive for MAGE-1 and/or MAGE-3 had corresponding negative metastatic lesions. On the contrary, 4 of the 25 MAGE-negative primary tumors gave rise to positive metastatic nodes. Our results confirm in vivo, at the molecular level, the tumor-antigen heterogeneity previously observed at the cellular level by in vitro analysis. Our data strongly suggest that, at least in patients with breast cancer, multiple different antigens would be required to optimize the recognition of neoplastic cells in immunotherapeutic protocols using MAGE products as target antigens.
Synthesis and Structure-Activity Relationship of 3-Substituted Benzamide, Benzo(b)furan-7-carboxamide, 2,3-Dihydrobenzo(b)furan-7-carboxamide, and Indole-5-carboxamide Derivatives as Selective Serotonin 5-HT4 Receptor Agonits. (1998)

The title compounds (6-9) were prepared and evaluated for serotonin 5-HT4 agonistic activity in in vitro tests. Introducing a propyl or allyl group at the 3-position of benzamide caused only a slight enhancement of agonistic activity. Construction of the benzo[b]furan skeleton and 2,3-dihydrobenzo[b]furan skeleton caused a significant enhancement of the activity. 4-amino-N-[2-(1-azabicyclo[3.3.0]octan-5-yl)ethyl]-5-chloro- 2-methylbenzo[b]furan-7-carboxamide (7b) hemifumarate was as potent as cisapride. 4-Amino-N-[2-(1-azabicyclo[3.3.0]octan-5-yl)ethyl]-5-chloro- 2,3-dihydro-2-methylbenzo[b]furan-7-carboxamide (8a) hemifumarate, 4-amino-N-[2-(1-azabicyclo[3.3.0]octan-5-yl)ethyl]-5-chloro- 2,3-dihydro-2-ethylbenzo[b]furan-7-carboxamide (8c) hemifumarate, and 4-amino-N-[2-(1-azabicyclo[3.3.0]octan-5-yl)ethyl]-5-chloro- 2,3-dimethylbenzo[b]furan-7-carboxamide (8d) hemifumarate were more potent than cisapride. Furthermore, 8a hemifumarate was free from dopamine D1, D2, serotonin 5-HT1, 5-HT2 and muscarine M1, M2 receptor binding activity in the in in vitro tests. On the other hand, construction of the indole skeleton caused a remarkable decrease in activity.
Notch signaling in vascular development and physiology (2007)

Notch signaling is an ancient intercellular signaling mechanism that plays myriad roles during vascular development and physiology in vertebrates. These roles include regulation of artery/vein differentiation in endothelial and vascular smooth muscle cells, regulation of blood vessel sprouting and branching during both normal development and tumor angiogenesis, and the differentiation and physiological responses of vascular smooth muscle cells. Defects in Notch signaling also cause inherited vascular and cardiovascular diseases. In this review, I summarize recent findings and discuss the growing relevance of Notch pathway modulation for therapeutic applications in disease.
Analysis and Immunological Properties of Lymphadenopathy Associated Virus (LAV) Structural Proteins (1985)

LAV or LAV related viruses were isolated from patients with AIDS or with lymphadenopathy. The results presented here indicate that four major components (p45, p25, pl8 and pl3) are detected in purified virions. The p25 and the pl3 are internal proteins of LAV since they cannot be easily iodinated in the virions. The p25 can be purified by phosphocellulose chromatography and the purified protein can be labelled with I. The pl8 is either a gag gene product or a transmembrane protein. The major core proteins p25 of different viral isolates are antigenically identical but are not related to the major structural proteins of other retroviruses. Antibodies to LAV p25 are predominantly found in the sera of patients with AIDS or with pre-AIDS but in some cases, antibodies to pl8 and pl3 are also detected. These results confirm that the various LAV isolates represent a new human retroviruses associated with AIDS.
Imipramine demethylation in vivo: Impact of CYP1A2, CYP2C19, and CYP3A4* (1997)

We did not find in vivo evidence of either CYP1A2 or CYP3A4 activity in the N-demethylation of imipramine. This could be due in part to inadequate CYP1A2 and CYP3A4 in vivo function tests.
Tobacco-specific N-nitrosamines: formation during processing of midrib and lamina fines (1988)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTTobacco-specific N-nitrosamines: formation during processing of midrib and lamina finesCharles T. MacKown, Beth Douglass, Mirjana V. Djordjevic, and Lowell P. BushCite this: J. Agric. Food Chem. 1988, 36, 5, 1031–1035Publication Date (Print):September 1, 1988Publication History Published online1 May 2002Published inissue 1 September 1988https://pubs.acs.org/doi/10.1021/jf00083a031https://doi.org/10.1021/jf00083a031research-articleACS PublicationsRequest reuse permissionsArticle Views107Altmetric-Citations3LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Cutting Edge: Murine UL16-Binding Protein-Like Transcript 1: A Newly Described Transcript Encoding a High-Affinity Ligand for Murine NKG2D (2002)

Murine NKG2D is known to recognize H60 and five RAE1 variants. The human homologue recognizes both inducible MHC class I chain-related gene and constitutive (UL16-binding protein (ULBP)) ligands. Widely expressed, the latter are thought to mark transformed or infected cells for destruction by NK cells in the context of down-regulated cell surface class I (i.e., the "missing self"-response). Unlike MIC and ULBP however, mRNA for the murine ligands appears only in very limited contexts in the mature animal. In this study, we describe a NKG2D ligand termed "murine ULBP-like transcript 1 (MULT1) whose mRNA appears to be widely expressed in adult parenchyma. This molecule possesses MHC class I-like alpha1 and alpha2 domains as well as a large cytoplasmic domain. Recombinant MULT1 binds NKG2D with relatively high affinity (K(D) approximately 6 nM) and low k(off) (approximately 0.006s(-1)). Expression of MULT1 by normally resistant RMA cells results in their susceptibility to lysis by C57BL/6 splenocytes.
Differential effect of activin on mouse embryonic stem cell differentiation in insulin‐secreting cells under nestin‐positive selection and spontaneous differentiation protocols (2007)

Parallel to the importance of the development of cell therapies to treat diabetes is the production of sufficient numbers of pancreatic endocrine cells that function like primary islets. To increase the efficiency of endocrine pancreatic-like cell differentiation from mouse embryonic stem cells (ESCs), we applied activin-B to nestin-positive selection (protocol 1) and spontaneous differentiation (protocol 2) in different groups including: [A] activin-B, or [B] basic fibroblast growth factor (bFGF), and/or [C] activin-B+bFGF. The differentiated cells expressed most pancreatic-related genes. The number of insulin- and C peptide-positive cells, as well as dithizone-positive clusters in group A of protocol 1 was higher than in the other groups. Significant insulin concentrations in protocol 1 were produced when glucose was added to the medium, in comparison with protocol 2. Moreover, insulin release was increased significantly in group A of protocol 1 even with lower glucose. In conclusion, Addition of activin-B in a nestin-positive selection protocol increased the insulin-secreting cells in comparison with the same protocol with bFGF and/or spontaneous differentiation in presence of bFGF and/or activin-B alone. However, improvements of the current method are required to generate a sufficient source of true beta-cells for the treatment of diabetes mellitus.