Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.10.2 (focal adhesion kinase)
44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Regional assignment of eight markers to chromosome 2 of Ateles paniscus chamek (APC) confirmed a syntenic association similar to human (HSA) 12q + 14q + 15q. Three HSA 12q markers (RAP1B, PAH and ALDH2) were allocated to a shortest region of overlap (SRO) in APC 2p and found to be syntenic to other HSA 12q markers (PEPB and TCF1). Five HSA 14q markers (CTLA, PAX9, NSP, FOS and CHGA) were allocated to APC 2q and found to be syntenic to other HSA 14q markers (NP, TGM1, and CALM1) and to four HSA 15q markers (THBS1, B2M, HEXA and MPI) but dissociated from markers close to HSA 14qter (CKB) and HSA 15qter (FES-IDH2). Karyotypic comparisons showed an evident homoeology between APC 2p and HSA 12q while APC 2q was similar to an HSA 14qter::HSA 15qter fusion product. Comparative gene mapping data show that the HSA 14q + HSA 15q syntenic association is an ancestral mammalian gene cluster that has been maintained in several primate taxa. Conversely, in Ateles, it has been further associated with HSA 12q while, in Hominoids and Cebus, it has been independently dissociated into two separate syntenic groups, similar to HSA 14q and HSA 15q.
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PMID:Comparative gene assignment in Ateles paniscus chamek (Platyrrhini, Primates) and man: association of three separate human syntenic groups and evolutionary considerations. 960 75

A low-level, closed-loop controller for FES-assisted standing up and sitting down is described. If, for able-bodied individuals, when standing up and sitting down, the knee angular velocity is plotted against knee angle, consistent phase-plane trajectories are produced. The bang-bang controller uses a model of this trajectory as a switching curve. The design rationale for the controller was the desire to avoid injuries that might occur if knee-locking on standing up and seat-contact on sitting down are not adequately controlled. This switching curve controller (SCC) was incorporated within a hierarchical, finite state control scheme, with electrical stimulation applied bilaterally to the knee extensors. The SCC was tested in a pilot study on a female volunteer with paraplegia (T5/6 ASIA A) and evaluated against an unramped, open-loop controller (OLC). The vertical hand forces and knee angles were measured. The subject was able to achieve standing up and sitting down safely using both controllers. For standing up, the SCC was not found to offer any quantifiable advantages over the OLC and was found to increase the hand force by 8.4%. In contrast, for sitting down the SCC was found to reduce the knee angular velocities as the subject approached the seat by 27%, demonstrating a safer, softer landing.
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PMID:Switching curve controller for FES-assisted standing up and sitting down. 963 24

Allele frequency distributions at the short tandem repeat (STR) loci HUMVWA, HUMFES, HUMF13A01 and of the variable number of tandem repeat (VNTR) locus D1S80 were determined in a Filipino population from Metro Manila (103 individuals) by use of the polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (PAGE). The exact test demonstrated that all four loci had no deviations from Hardy-Weinberg equilibrium (HWE) with the only reservation that the exact test p-value for F13A01 is weak. The discriminating power is 0.82 for D1S80, and the expected exclusion chance is 0.85 for F13A01, 0.83 for FES, and 0.93 for VWA. The observed heterozygosity rates are 0.63 for D1S80, 0.66 for F13A01, 0.67 for FES, and 0.80 for VWA. The exact test for independance between all loci gave a p-value of 0.0195. This is the first time that Filipino population data of DNA loci of forensic importance are reported.
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PMID:Allele frequency distributions of the polymorphic STR loci HUMVWA, HUMFES, HUMF13A01 and the VNTR D1S80 in a Filipino population from Metro Manila. 964 71

The short tandem repeat systems (STRs) HumvWA, HumFXIIIB, and HumFES/FPS were amplified in a triplex polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. The samples were analyzed by native horizontal discontinual electrophoresis. No deviations from Hardy-Weinberg equilibrium were detected. The mean exclusion chances for Egyptians and Yemenians were 0.634 and 0.591 (vWA), 0.530 and 0.531 (FXIIIB), and 0.573 and 0.583 (FES); the discriminating powers were 0.937 and 0.924 (vWA), 0.900 and 0.899 (FXIIIB), and 0.918 and 0.921 (FES); and the observed heterozygosity rates were 0.84 and 0.72 (vWA), 0.73 and 0.83 (FXIIIB), and 0.81 and 0.80 (FES). No significant differences were found between the two Arab populations, but the differences between both Arab populations and a European population for HumFES and FXIIIB and between the Yemenian sample and a European sample for vWA were significant. No evidence of linkage disequilibrium between any of the three STRs tested was found.
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PMID:Genetic variation at the short tandem repeat loci HumvWA, HumFXIIIB, and HumFES/FPS in the Egyptian and Yemenian populations. 967 May 10

Short tandem repeats (STRs) are used by many laboratories throughout the world performing paternity testing or criminal casework. Nevertheless, many of the established STRs have obvious disadvantages such as low number of common alleles (e.g., hTPO, THO1) or alleles with frequencies of nearly 50% (e.g., hTPO, FES). In this paper the new STR locus D3S1359 is described. In a population study which was carried out on 136 unrelated individuals from southwestern Germany, we have detected 17 different alleles. The most common allele was allele 13 (204 bp) with a frequency of 18.8%. Eight further alleles have frequencies higher than 5%. With a heterozygozity index of 90% and 60 different genotypes, D3S1359 has shown to be a highly polymorphic and informative marker. Sequencing data of this STR locus revealed further variation.
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PMID:The short tandem repeat locus D3S1359. 972 77

A physiologically based mathematical model for skeletal muscle activated by neural impulses is presented. This model is developed specifically to capture the behavior for mammalian skeletal muscle activated by N-lets (sets of N high-frequency pulses with variable interpulse intervals). N-let pulse trains have been demonstrated as a possible means of producing contractions with reduced fatigue and fiber-type transformation, while maximizing the force-time integral per pulse (FTIpP) of electrically stimulated muscle. This model is developed by modeling the underlying biophysical processes responsible for the initiation and maintenance of force generation in muscle. The release and reaccumulation dynamics of calcium ions from the sarcoplasmic reticulum are modeled and proposed as the governing mechanism for the observed N-let effects. It is found that the new model is robust, numerically stable and easily implemented. Simulation results are presented that demonstrate the model's ability to capture a variety of the nonlinear summation, force and stiffness variation effects seen experimentally when activating skeletal muscle with N-lets. General properties of FES muscle are also predicted by the model. The significant insight provided by this model into the internal dynamics of skeletal muscle is used to assess a variety of mechanisms proposed for N-let behavior. It is postulated that the calcium release and reaccumulation dynamics, as incorporated in this model, are responsible for the N-let effects found in experiment.
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PMID:A mathematical model for skeletal muscle activated by N-let pulse trains. 974 6

Eight STR systems (THO1, FABP, VWA, FES/FPS, HPRTB, F13A1, CSF1PO, and D6S366) were investigated in different ethnic groups of Argentina. Allele and genotype frequencies, power of exclusion, and discriminative power were investigated. Hardy-Weinberg expectations were calculated from heterozygosity levels. FST and G tests demonstrated that significant differences exist among the investigated populations for some of the eight STRs markers. The Wichi Indians are clearly separated from the Mapuche and Tehuelche, who in turn are closer to the European population, suggesting non-Amerindian admixture.
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PMID:Comparison of allele frequencies of eight STR loci from Argentinian Amerindian and European populations. 978 May 20

Extraction of a tooth necessitated by factors such as developmental problems, trauma, severe periodontal disease and endodontic problems often causes deformities of the residual alveolar ridge in the maxillary anterior region. These cases are usually difficult to restore prosthetically and they result in poor esthetics and insufficient occlusal function. This study investigated the efficacy of root form bioactive glass cones implanted into (a) artificial sockets produced by bone splitting of previous extraction sites (group BS) and (b) fresh extraction sockets (group FES). We included conventional extraction sockets sutured without implanting the root form bioactive glass cones as a control (group C). A total of 16 patients were treated for whom extractions had been indicated due to severe periodontitis. 6 patients with 7 implant sites having Class II or III alveolar ridge deformities comprised the BS group. 5 patients with 10 implant sites comprised the FES group. Group C, comprised 5 patients with 10 extraction sites. Alveolar ridge width and height measurements were obtained using study casts preoperatively, immediately postoperatively, and at 3 and 12 months after operation. In the BS group, while the width of the alveolar ridge increased by 2.8+/-1.18 mm immediately after ridge augmentation procedure and by 2.4+/-0.93 mm at 1 year after operation (p<0.01), the height of the alveolar ridge increased by 1.8+/-1.99 mm and 1.4+/-1.74 mm respectively (p<0.05). In the FES group, the differences between preoperative original ridge height and width and postoperative measurements were not statistically significant, which demonstrated the efficiency of this method in preserving the alveolar ridge. In group C, while alveolar ridge width after 12 months had not significantly changed, alveolar ridge height decreased significantly (1.35+/-1.05 mm, p<0.01). After 12 months, no dehiscences were detected and the differences in height between the groups remained significant. The results of this study indicate that this procedure is efficient in reconstructing alveolar ridges deformed as a result of extraction, particularly relevant in relation to preparation for subsequent restorative treatment.
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PMID:Alveolar ridge reconstruction and/or preservation using root form bioglass cones. 979 57

The purpose of this pilot study was to compare the contribution of upper body musculature to VO2 with and without concurrent leg FES (LFES). Eight subjects with spinal cord injury, lesion levels range C6-T12, performed upper body exercise (UBE) during no LFES (NOS), LFES at 40 mA (LOS), and 80 mA (HIS), at rest, 60% and 80% of VO2peak. Resting VO2 values were obtained during NOS, LOS and HIS conditions and were then subtracted from their respective whole body VO2 values to give an estimate of upper body VO2. Small and non significant increases were found in the HIS vs NOS condition at 60% VO2peak. Larger differences of 7.8% were found in the HIS vs NOS condition at 80% VO2peak (11.35+/-3.8 ml kg(-1) min(-1) to 12.24+/-4.0 ml kg(-1) min(-1)), although this too was not significant, perhaps due to the small number of subjects in this study and the consequently low statistical power to detect a significant difference. We discuss the implications for these preliminary results in the context of the existing literature on this topic.
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PMID:Augmented upper body contribution to oxygen uptake during upper body exercise with concurrent leg functional electrical stimulation in persons with spinal cord injury. 984 81

Chronic myelogenous leukemia (CML) originates in a pluripotent hematopoietic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and other hematopoietic cell lineages are involved in the process of clonal proliferation and differentiation. After a period of 4-6 years the disease progresses to acute-stage leukemia. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. Most of ABL is linked with a truncated BCR. The BCR/ABL fusion gene codes for an 8-kb mRNA and a novel 210-kDa protein which has higher and aberrant tyrosine kinase activity than the normal c-ABL-coded counterpart. Phosphorylation of a number of substrates such as GAP, GRB-2, SHC, FES, CRKL, and paxillin is considered a decisive step in transformation. An etiological connection between BCR/ABL and leukemia is indicated by the observation that transgenic mice bearing a BCR/ABL DNA construct develop leukemia of B, T, and myeloid cell origin. CML cells proliferate and expand in an almost unlimited manner. Adhesion defects in bone marrow stromal cells have been proposed to explain the increased number of leukemic cells in the peripheral blood. However, findings of our laboratory have shown that the BCR/ABL chimeric protein that is expressed in transfected cells may, under certain conditions, also increase the adhesion to fibronectin via enhanced expression of integrin. Our previous immunocytological studies on the expression of beta1 and beta2 integrins have found no qualitative differences between normal and CML hematopoietic cells in vitro. Even long-term-cultured CML bone marrow or blood cells continuously express those adhesion molecules that are characteristic of the cytological type. Recent experiments indicate that certain early CML progenitors may adhere to the stromal layer in vitro similarly to their normal counterparts. They cannot be completely removed by long-term culture on allogeneic stromal cells. At present, the only curative therapy is transplantation of allogeneic hematopoietic stem cells. Based on the molecular and cellular state of knowledge of CML, new therapies are being developed. BCR/ABL antisense oligonucleotides, inhibitors of tyrosine kinase, peptide-specific adoptive immunotherapy or peptide vaccination, and restoration of hematopoiesis by autologous stem cell transplantation following CML cell purging are examples of important approaches to improving CML treatment.
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PMID:Chronic myelogenous leukemia: molecular and cellular aspects. 987 25


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