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:2.7.10.1 (ERK)
95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic linkage has been analyzed between cystic fibrosis (CF) and a number of markers on the long arm of chromosome 7, including D7S15, COL1A2, PON, MET, D7S8, and TCRB, using a cohort of 47 Canadian and 13 Danish CF families. The analysis confirms the previous observations that both MET and D7S8 are closely linked to CF. Based on the result from one family, MET appears to be more proximal to the centromere than CF. Our analysis also suggests that genetic heterogeneity may account for the high recombination fraction between CF and D7S8 observed in another family. In addition, a strong linkage disequilibrium has been observed between CF and the two closely flanking markers.
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PMID:Genetic analysis of cystic fibrosis using linked DNA markers. 346 87

We have used a panel of eight human/mouse somatic-cell hybrids, each containing various portions of human chromosome 7, and three patient cell lines with interstitial deletions on chromosome 7 for localization of six DNA markers linked to the cystic fibrosis locus. Our data suggest that D7S15 is located in the region 7 cen----q22, that MET is located in 7q22----31, and that D7S8 and 7C22 are located in q22----q32. The hybridization results for COL1A2 and TCRB are consistent with their previous assignment to 7q21----q22 and 7q32, respectively. Given the location of these six markers and their linkage relationships, it is probable that the cystic fibrosis locus is in either the distal region of band q22 or the proximal region of q31. Using the same set of cell lines, we have also examined the location of another chromosome 7 marker PGY1. The data show that PGY1 is located in the region 7cen----q22, a position very different from its previous assignment.
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PMID:Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. 347 64

Several multigenerational S-leut Hutterite families with cystic fibrosis (CF) were ascertained. Linkage studies with DNA marker loci MET and pJ3.11 (D7S8) were performed to determine whether (1) the CF gene in this inbred population is linked to DNA markers on chromosome 7, as it is in outbred populations of European origins, and (2) ancestral origin(s) of the CF gene could be determined. Our results indicate that the CF gene in Hutterite families segregates with chromosome 7 markers, identified by probes metH and pJ3.11. Thus, the CF mutation in Hutterites is likely to be either at the same locus as or at one closely linked to that reported in outbred populations. Heterozygous carriers could be distinguished from normal homozygous sibs of affected individuals. In the families studied, three different chromosome 7 haplotypes carried the CF mutation, raising the possibility that the CF gene may have been introduced into this population by as many as three different ancestors.
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PMID:Studies of cystic fibrosis in Hutterite families by using linked DNA probes. 347 2

All cases of nasal polyposis seen in a district hospital in Nigeria over a 5 year period were analysed in a prospective study to determine the aetiological pattern, the prevalence, occurrence and pathological types as well as predisposing factors. Out of the 172 patients treated, 144 had common nasal polyps while 28 patients had nasal polyps resulting from tumors. Out of the 144 patients, 103 had inflammatory polyps, 39 were of allergic origin and 2 due to cystic fibrosis. Peak presentation was between 31-40 years with a total of 58 patients (33.72%). All the patients with nasal polyposis represented 0.74% of all attendances to the ENT clinic over the period. There was no sex difference. Nasal polypectomy was carried out in all the patients while Caldwell-Luc's operation and Antrum Washout were carried out on selected cases. There were recurrences in 18 patients over the period. Delay in reporting to the NET clinic was attributed to ignorance on the part of both the patients and the general practitioners who often treated their presenting symptoms as common cold and catarrh.
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PMID:Nasal polyposis in a Nigerian district hospital. 775 90

The allelic polymorphism of MET and D7S23 loci closely linked to the cystic fibrosis gene was studied in two Bashkir ethnic groups and the Komi population using the polymerase chain reaction. The distribution of the allelic frequencies of the MET locus in Bashkir and Komi populations does not differ significantly from that in populations from Leningrad, Kiev northwest Europe and North America. With the D7S23 locus, a similar distribution of allelic frequencies was found among Bashkir, Komi, Lithuanian and Buryat populations, but a significant difference was observed from the allelic frequencies at this locus in populations from Leningrad and Azerbaijan. Genetic distances between the investigated Bashkir and Komi populations were specified according to the data on the allelic frequencies of the MET and D7S23 loci, and a comparative analysis with the genetic distances obtained on the basis of the allele frequencies of the biochemically polymorphic systems of ABO. Rhesus, haptoglobin protein and acidic erythrocytic phosphatase was carried out.
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PMID:Polymorphism of MET and D7S23 loci linked to the cystic fibrosis gene in Bashkir and Komi populations. 791 9

The allelic polymorphism of MET and D7S23 loci closely linked to the cystic fibrosis gene was studied using polymerase chain reaction of DNA synthesis. Our studies failed to reveal any significant differences in the distribution of the allelic frequencies of these loci in the populations regarded. The distribution of the allelic frequencies of MET locus in Bashkir and Komi populations did not virtually differ from that in the populations of St. Petersburg and Kiev and those of North-West Europe and North America. Similarity in the distribution of allele frequencies between Bashkir, Komi, Lithuanian and Buryatian populations was observed for the D7S23 locus. At the same time, significant difference from the allelic frequencies for this locus was noted in populations of St. Petersburg and Azerbaijan. Genetic distances between the Bashkir and Komi populations under study were specified according to the data on the allelic frequencies of MET and D7S23 loci. Comparative analysis of these distances and those obtained on the basis of the allelic frequencies of biochemically polymorphic systems of AB0, Rh-Hr blood groups, haptoglobin protein (Hp) and the enzyme of acid erythrocyte phosphatase (AcP) was carried out as well.
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PMID:[RFLP analysis of Met and D7S23 loci, linked with the cystic fibrosis gene, in the populations of Bashkir and Komi]. 809 3

Data on allelic polymorphism of MET and D7S23 DNA loci linked to the human cystic fibrosis gene studied in three Bashkir ethnic groups and some Volga-Ural populations (Tartars, Maris, Mordovians, Udmurts, Chuvashs, and Komis) are presented. Udmurts were found to be substantially different from Bashkirs, Tartars, Mordovians, and Chuvashs by the allele frequency distribution observed for MET, while Komis and Bashkirs differed by this parameter from Mordovians and Maris. Comparative analysis of restriction fragment length polymorphism (RFLP) at the D7S23 locus revealed statistically significant differences in genotype frequencies between Bashkirs of the Arkhangel' skii region and populations of Mordva and Udmurtia. In this respect, the Mordovian population appeared to be notably different from the populations of Bashkortostan, Tatarstan, Marii-El, Udmurtiya, Chuvashiya, and Komis. Genetic distances were calculated and corresponding dendrograms were constructed on the basis of data on Met-H, CS.7, and the ApoB locus hypervariable region allelic frequencies. Three ethnogeographic Bashkir groups belonging to one tree branch were found to be closely related to the populations of Tartars, Maris, Udmurts, and Chuvashs and substantially different from Komis and Mordovians. Thus, the position of Volga-Ural populations on the dendrogram corresponds to the degree of relationship between the Finno-Ugric and Turkic populations, confirming the usefulness of DNA polymorphism analysis for the study of the genetic structure of populations.
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PMID:[Allelic polymorphism of the DNA-loci met and D7S23, linked to the mucoviscidosis gene in human populations of the Volga-Ural region]. 944 22

Estrogen-induced growth stimulation has not previously been demonstrated in estrogen receptor (ER) cDNA transfected human cell lines in contrast to breast cancer cell lines expressing endogenous ER. On the contrary, estrogen usually inhibits cell growth of ER transfected cell lines. Growth inhibition by estrogen has also been demonstrated in our cell line, F9, which is an ER transfected subline of HMT-3522 breast epithelial cells derived from fibrocystic disease and propagated in chemically defined medium. By omitting EGF in the medium, we have demonstrated not only an increased transcriptional activity of the ER but also--after an adaptation period--estrogen-dependent growth of the cells, and we have succeeded in establishing a new subline, S3B, that requires 17beta-estradiol (E2) for growth. This is the first example of a nonmalignant, human breast epithelial cell line which is dependent on estrogen for continued growth. The S3B cells express functional ER as measured by transcriptional activity. ER-E2 induced transcription was not inhibited by EGF as in F9 cells. We propose that a growth-stimulatory response of breast epithelial cells in vitro to E2 is dependent on an inactive or down-regulated EGF receptor signaling pathway and it is possible that the effect of estrogen on normal breast epithelium in vivo also is modulated by the EGFR.
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PMID:Growth response of breast epithelial cells to estrogen is influenced by EGF. 1045 48

DNA polymorphism was studied in the human diallelic loci MET and D7S23 linked to the cystic fibrosis gene, diallelic locus PAH (the phenylketonuria gene), polyallelic locus ApoB, and hypervariable DNA sequences identified by means of DNA fingerprinting with phage M13 DNA as a probe. The obtained data were used to calculate genetic distances and perform taxonomic analysis of populations of the Volga-Ural region (Turkic and Finno-Ugric ethnic groups). The DNA polymorphic systems studied were demonstrated to be highly informative; their advantages and disadvantages were revealed. According to the data obtained, the genetic distances that were calculated from DNA fingerprints more adequately reflected the genetic relationships between the populations studied than the distances calculated from the allelic frequencies of four DNA loci. It was also found that, in population studies, it would suffice to analyze only the 3.5-6 kb fingerprint fragment that is most suitable for reading, rather than the entire fingerprint obtained.
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PMID:[Genetic distances and taxonomic analysis of human populations of the Volga-Ural region based on data on DNA polymorphism]. 1051 75

Ligation of the asialoGM1 Pseudomonas aeruginosa pilin receptor has been demonstrated to induce IL-8 expression in airway epithelial cells via an NF-kappaB-dependent pathway. We examined the signaling pathways required for asialoGM1-mediated NF-kappaB activation in IB3 cells, a human bronchial epithelial cell line derived from a cystic fibrosis (CF) patient, and C-38 cells, the rescued cell line that expresses a functional CF transmembrane regulator. Ligation of the asialoGM1 receptor with specific antibody induced greater IL-8 expression in IB3 cells than C-38 cells, consistent with the greater density of asialoGM1 receptors in CF phenotype cells. AsialoGM1-mediated activation of NF-kappaB, IkappaB kinase (IKK), and ERK was also greater in IB3 cells. With the use of genetic inhibitors, we found that IKK-beta and NF-kappaB-inducing kinase are required for maximal NF-kappaB transactivation and transcription from the IL-8 promoter. Finally, although ERK activation was required for maximal asialoGM1-mediated IL-8 expression, inhibition of ERK signaling had no effect on IKK or NF-kappaB activation, suggesting that ERK regulates IL-8 expression in an NF-kappaB-independent manner.
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PMID:Signaling intermediates required for NF-kappa B activation and IL-8 expression in CF bronchial epithelial cells. 1238 60


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