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)

Preliminary studies of RAS mutational activation in human testicular germ cell neoplasms have yielded conflicting results. Whereas two studies of clinical material revealed a significant incidence of N- and KRAS mutations, two studies of a variety of germ cell lines failed to document RAS mutations. To clarify the incidence of RAS mutations in these tumors, we studied archival paraffin-embedded, formalin-fixed orchiectomy specimens from 25 nonseminomas (NSGCT), 18 seminomas (SEM), and one Leydig cell tumor. For 14 of the 44 neoplasms, DNA was also available from nonmalignant testis adjacent to the tumor. Six age-matched patients had testes removed because of nonmalignant disease and were studied as controls. Polymerase chain reaction (PCR) amplified the K-, N-, and HRAS 12, 13, and 61 codons of these specimens, and mutations were detected with mutation-specific oligonucleotide probe hybridization of Southern and slot blots. Four mutations were found in KRAS 12 (4/44;[9.1%]). One seminoma [1/18(5.6%)] contained the mutation GGT(GLY)----CGT(ARG), and three NSGCT [3/25(12%)] were found to have GGT(GLY)----GAT(ASP) mutations. One of the NSGCT mutations was detected in adjacent nonmalignant tissue, but the corresponding tumor did not contain any detectable mutation. No mutations were detected at KRAS 13 or 61, in NRAS or HRAS 12, 13, or 61, or in the control normal testes. PCR, slot blots, and hybridizations were performed twice by two separate investigators for confirmation of results. PCR-generated mutation-specific positive controls were created for all possible RAS mutations, and these along with wild-type DNA controls were integral to interpretation of the oligonucleotide mismatch hybridization assay. By using positive and negative controls, we have detected a relatively low incidence of RAS mutations in archival human testicular germ cell tumors.
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PMID:Detection of RAS mutations in archival testicular germ cell tumors by polymerase chain reaction and oligonucleotide hybridization. 138 46

JAK2 and STAT3 polymorphisms have been implicated to be associated with inflammatory bowel disease, which might share common immunogenesis and genetic factors with AS. Here, we have investigated the possible relationship of JAK2 and STAT3 polymorphisms with AS in a Chinese Han population. We genotyped 200 AS patients and 200 healthy controls for 4 polymorphisms in JAK2 and 6 in STAT3 using the chip-based matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry. There was no difference in the distribution of allele and genotype in either JAK2 or STAT3 between AS groups and controls. Haplotype analysis revealed an association of haplotype rs1536798/rs10119004/rs7857730-CGT in JAK2 locus with AS. In conclusion, we first demonstrated the association of JAK2 polymorphisms with the susceptibility of AS, which indicated that IL-23 pathway also was an important etiological factor in AS in Chinese population.
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PMID:Analysis of JAK2 and STAT3 polymorphisms in patients with ankylosing spondylitis in Chinese Han population. 2062 14

During the 2004 growing season in the Liaoning Province in China, where there was large population of whiteflies, several sweet potato (Ipomoea batatas) breeding lines showed leaf curl symptoms. A survey was conducted to determine the incidence of Sweet potato leaf curl virus (SPLCV) in China. Sixteen plants were collected and stem scions from those plants were graft inoculated to Ipomoea nil. Three weeks later, the indicator developed symptoms of leaf curling, interveinal chlorosis, and stunting. Total nucleic acid was extracted from young leaves of sweet potato and then evaluated using polymerase chain reaction (PCR). Primers, developed by Briddon and Markham (1) and used as universal primers for amplification of the geminivirus DNA fragment, were BM-V (5'-KSG GGT CGA CGT CAT CAA TGA CGT TRT AC-3') and BM-C (5'-AAR GAA TTC ATK GGG GCC CAR ARR GAC TGG C-3'). Amplified fragments with BM primers theoretically should have sizes almost equal to the full length of the DNA A component of the bipartite genome (2). Expected DNA fragments of 2.8 kb that contained the AV1, AV2, AC1, AC2, AC3, and AC4 open reading frames were obtained from symptomatic, but not from symptomless (uninfected) plants. The 2.8-kb fragments obtained by amplification were purified and cloned into the PMD18-T vector. Recombinant plasmids were then transformed into competent cells of Escherichia coli strain DH5(. The fragment was sequenced (GenBank Accession No. DQ512731), and nucleotide sequence of corresponding regions were compared with a published sequence of SPLCV available in GenBank (Accession No. AF104036). The AC4 and AC2 genes showed the highest (92%) and the lowest (83%) identity, respectively. This virus has been reported in the United States, Taiwan, Japan, and Peru. To our knowledge, this is the first report of the natural occurrence of SPLCV in China. References: (1) R. W. Briddon and P. G. Markham. Mol. Biotechnol. 1:202, 1994. (2) M. Onuki and K. Hanada. Ann. Phytopathol. Soc. Jpn. 64:116, 1998.
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PMID:First Report of Sweet potato leaf curl virus in China. 3078 25