Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There have been a number of indications that sex hormones can affect the rate of growth of meningiomas during pregnancy. The presence of oestrogen or progesterone receptors in meningiomas and the influence of sex hormones upon cell cultures derived from human meningiomas have been extensively investigated. The results have been controversial, with most of the discussion centring upon the presence and possible role of oestrogen receptors. The aim of the present study was to assess oestrogen receptors in human meningiomas with 16alpha[l8F]fluoro-17beta-oestradiol ([18F]FES) and positron emission tomography (PET). With this purpose in mind, we measured the regional brain uptake of [18F]FES in six patients with a neuroradiological and histological diagnosis of meningioma, comparing the in vivo PET data with the immunohistological analysis of oestrogen receptors performed on formalin-fixed, paraffin-embedded tissue obtained at surgery. Two analyses were used for the in vivo measurement of [18F]FES binding to oestrogen receptors: the ratio of tumour activity to that of normal tissue (T/NT), calculated 90 min after tracer injection, and the ratio between the equilibrium distribution volume (DV) in normal and pathological tissues, calculated by means of a graphical kinetic analysis. PET studies demonstrated a marked uptake of [18F]FES by the tumour in four of the six patients. Immunohistochemical assay using a manual staining method capable of detecting oestrogen receptors at a level of > 10 pmol mg(-1) of protein detected only sparse immunostaining in one of the six meningiomas. Distinct albeit weak immunostaining was demonstrated in five of the six meningiomas when the sensitivity of the immunohistochemical assay was increased to < 10 pmol mg(-1) of protein by use of an automated staining method (Bioteck 1000). Comparison of the in vivo and immunohistochemical results showed a correlation in five of the six patients, thus indicating the high sensitivity of [18F]FES for the in vivo evaluation of oestrogen receptor expression.
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PMID:Oestrogen receptors in meningiomas: a correlative PET and immunohistochemical study. 934 97

The association between genetic instability in repetitive DNA domains and cancer has been reported in different types of malignancies. In this work we perform a comparative study of 29 gastric tumors with paired normal tissue using seven tetra-(FES/FPS, VWA31/A, HTPO, TH01, MBPB) and pentanucleotide (CD4, TP53) STR polymorphic markers regarding loss of heterozygosity and replication error status. Furthermore, we compare the gene frequencies obtained in normal tissue from patients with those of a normal control population from the same area, looking for allele associations between any of these polymorphic loci and gastric cancer risk. The results have shown that FES/FPS and TP53 present the higher rates of somatic instability. The observed results for TP53 are in accordance with those previously reported in gastric carcinogenesis, while instability of FES/FPS is for the first time reported in this tumor type. Our data suggest that different loci show different rates of instability and/or loss of heterozygosity and do not seem to consist of a result of an RER+ phenotype affecting several genomic repetitive domains. Furthermore, the instability in markers TH01, MBPB, TP53, and FES was generally detected in genotypes involving alleles with a high number of repeats. Comparing gene frequencies in patients and normal controls, no significant differences were found, although longer alleles are consistently more frequent in patients for the markers MBPB, TH01, and CD4.
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PMID:Tetra- and pentanucleotide short tandem repeat instability in gastric cancer. 937 35

Allele frequencies for the STR systems FES/FPS and F13B were determined from 203 unrelated individuals from north-eastern Poland. After denaturing PAGE, 7 and 6 alleles were detected for FES/FPS and F13B, respectively. No deviations from Hardy-Weinberg equilibrium were observed.
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PMID:The STR systems FES/FPS and F13B in a Polish population. 938 17

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi-generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease-causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.
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PMID:Localization of a gene for otosclerosis to chromosome 15q25-q26. 942 36

The present study describes two novel cell lines, DUNATIS and SILVANUS, established from B lineage acute lymphoblastic leukemia patients. Respectively, DUNATIS and SILVANUS display an early pre-B cell and a pre-B cell phenotype. Spontaneous DNA replication of both cell lines was strongly inhibited by IL-4. This effect was directly mediated by IL-4 and exerted through the CD124 IL-4 receptor chain. Notably, IL-4 was associated with rapid cell death and reduction of cellularity in DUNATIS, whereas these parameters were considerably less pronounced and only observed after longer-term exposure of the SILVANUS cells to IL-4. In addition to these differences, although both cell lines expressed FES oncoprotein, a 100 kDa protein associated with FES was strikingly found to be tyrosine-phosphorylated in response to IL-4 exclusively in DUNATIS cells. These data demonstrate that IL-4 displays heterogenous effects on leukemic B cell precursors responsive to inhibition of DNA synthesis via IL-4 mediated engagement of the CD124 receptor chain. The present findings may be of use for appreciation of the effects of IL-4 in B lineage ALL, and the novel cell lines could represent a model for further identification of target molecules in IL-4 signalling.
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PMID:Heterogeneity of the inhibitory effects of IL-4 in two novel B lineage acute lymphoblastic leukemia cell lines. 944 37

Nine populations (Germans, Turks, Moroccans, Ovambos, Ugandans, Chinese, Japanese, Papuans, and Australian Aborigines) were investigated using six microsatellite systems (HumCD4, Hum F13B, HumFES/FPS, HumTH01, HumVWA, and D21S11), so-called STRs (short tandem repeats). Allele frequency data and sequencing results were used to compare the population genetic diversity among these populations. The genetic differences varied depending on the STR applied. According to the systems investigated, we defined three categories of STR microvariation: LOMs (low microvariation systems), INMs (intermediate microvariation systems), and HIMs (high microvariation systems). LOMs (STRs: CD4, FES, F13B, TH01) are characterised by a number of repeats between 5-15 and a stable repeat sequence. INMs and HIMs each showed an increasing number of repeats and additional sequence variation in the repeat motifs. The rate of new mutations was associated with the extent of microvariation. The reconstruction of phylogenetic trees led to a clustering in an early split of the African populations followed by further branching of the Asian/Melanesian and the Caucasian groups.
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PMID:Population genetic diversity in relation to microsatellite heterogeneity. 948 77

Polymerase chain reaction (PCR) amplified alleles need to be isolated and purified before carrying out additional analysis to confirm sequence, number of repeats and microvariants within a short tandem repeat (STR) locus. Also, PCR amplification of tetranucleotide repeat loci, used in DNA typing assays, often result in heteroduplex formation, adding to the complexity of analysis. Sequencing reactions require single specific target DNA for reliable sequencing analysis. Alkylated poly(styrene-divinylbenzene) columns at elevated temperature and gradient elution conditions increase the efficiency of separation to allow for the purification of PCR products. Using the separation technique of ion-pairing reverse-phase (IPRP) high performance liquid chromatography (HPLC), molecular biologists can separate and purify DNA fragments without alteration to the double-stranded DNA sequencing properties. In this study, the IP-RP chromatography technique has been demonstrated by separation of alleles of the short tandem repeat loci of TH01, vWA31, F13A01 and FES/ FPS. Alleles differing in size range of 12 to 4 base pairs were separated by IPRP/HPLC and individual alleles were peak-captured, then cycle-sequenced. These HPLC fractions required no additional steps prior to cycle sequencing. Capillary electrophoresis (CE) was used to sequence the alleles. Furthermore, CE offers advantages over traditional slab methods via automation and higher applied voltages. Interestingly, unlike traditional gel electrophoresis, samples were introduced into the sieving matrix by electrokinetic injection, which allows for multiple injections from a single sample, a key feature for method development. Applied voltage was 320 V per centimeter using a nonderivatized fused silica capillary with an interior diameter of 50 microm and a total length of 47 centimeters. The total analysis time including capillary filling and pre-electrophoresis was less than 30 min for a 220-bp fragment. A sequencing rate of 530 bp/h was achieved using these conditions. By combining the techniques of HPLC separation and CE sequencing, the results confirmed the sequence and number of nucleotide repeats for each STR loci. An average sequencing efficiency of 97% was achieved. Additionally, this method defined the absence of a 9.3 microvariant for a TH01 heterozygous individual previously typed as a 9, 9.3/10 using slab gel electrophoresis. The techniques described can be applied to other DNA purification and isolation problems.
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PMID:Sequencing using capillary electrophoresis of short tandem repeat alleles separated and purified by high performance liquid chromatography. 951 71

Regional assignment of five markers to chromosome 2 of Ateles paniscus chamek (APC) confirmed a syntenic association similar to human (HSA) 12q + 14q + 15q. TCF1 was allocated to a shortest region of overlap (SRO) in APC 2p and found to be syntenic to PEPB, while TGM1, CALM1, THBS1, and B2M were assigned to APC 2q, being syntenic to NP, HEXA, and MPI. Conversely, markers close to HSA 14qter (CKB) and HSA 15qter (FES-IDH2) were relocated to other Ateles syntenic groups. Karyotypic comparisons showed an evident homoeology between APC 2p and HSA 12q, whereas APC 2q was similar to an HSA 14qter::HSA 15qter fusion product.
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PMID:Assignment of TCF1, TGM1, CALM1, CKB, THBS1, B2M, and FES in Ateles paniscus chamek (Platyrrhini, Primates). 953 20

This study of 113 adolescent females with IDDM and their mothers investigated whether: (1) interaction patterns are more dysfunctional in families of girls with eating disturbances than in those without; and (2) the relationship between family functioning and metabolic control is mediated by an eating disturbance. Based on self-reported eating attitudes and behaviors, subjects were categorized as Nondisturbed (N = 56), Mildly Disturbed (N = 37), and Highly Disturbed (N = 20). Mothers and daughters rated overall family functioning (FES), and daughters rated parental relationships (IPPA, MFP). Metabolic control was assessed using HbA1c levels. MANCOVA illustrated that eating disturbances are associated with the perception of poor communication with mothers and fathers, a lack of trust in their accessibility and responsiveness, and overall family environments perceived to be conflictual and inadequate in support and structure. Regression analyses revealed that the presence and severity of an eating disturbance mediates the influence of family functioning on metabolic control.
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PMID:Eating disturbances, diabetes and the family: an empirical study. 958 90

The lack of measures that systematically evaluate the characteristics and functioning of Chinese families is hindering the development of appropriate family interventions for schizophrenia in China. We assessed the reliability and validity of revised and adapted Chinese versions (CV) of the Family Adaptability and Cohesion Evaluation Scales (FACES-II-CV) and the Family Environment Scales (FES-CV) and administered these instruments to 120 respondents from families with a schizophrenic member and 126 respondents from control families. The psychometric properties of the FACES-II-CV and of the FES-CV Cohesion, Conflict, Intellectual-Cultural Orientation, and Active-Recreational Orientation scales are satisfactory, so they are appropriate for use in China; the remaining six FES-CV scales require further culturally appropriate revision. Compared to control families, families with schizophrenic patients in China have higher conflict, lower cohesion, poor adaptability, and are less likely to be involved in intellectual and recreational activities. These differences remained significant after adjusting for family and respondent characteristics.
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PMID:Comparison of schizophrenic patients' families and normal families in China, using Chinese versions of FACES-II and the Family Environment Scales. 958 84


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