共查询到20条相似文献,搜索用时 22 毫秒
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MYB,MYBL1, MYBL2 and NFIB gene alterations and MYC overexpression in salivary gland adenoid cystic carcinoma 下载免费PDF全文
Kana Fujii Takayuki Murase Shintaro Beppu Kosuke Saida Hisashi Takino Ayako Masaki Kei Ijichi Kimihide Kusafuka Yoshiyuki Iida Tetsuro Onitsuka Yasushi Yatabe Nobuhiro Hanai Yasuhisa Hasegawa Hiroshi Inagaki 《Histopathology》2017,71(5):823-834
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Wai Kien Yip Chee Wei Choo Vincent Ching‐Shian Leong Pooi Pooi Leong Mohd Faisal Jabar Heng Fong Seow 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2013,121(10):954-966
Molecular alterations in KRAS, BRAF, PIK3CA, and PTEN have been implicated in designing targeted therapy for colorectal cancer (CRC). The present study aimed to determine the status of these molecular alterations in Malaysian CRCs as such data are not available in the literature. We investigated the mutations of KRAS, BRAF, and PTEN, the gene amplification of PIK3CA, and the protein expression of PTEN and phosphatidylinositol 3‐kinase (PI3K) catalytic subunit (p110α) by direct DNA sequencing, quantitative real‐time PCR, and immunohistochemistry, respectively, in 49 CRC samples. The frequency of KRAS (codons 12, 13, and 61), BRAF (V600E), and PTEN mutations, and PIK3CA amplification was 25.0% (11/44), 2.3% (1/43), 0.0% (0/43), and 76.7% (33/43), respectively. Immunohistochemical staining demonstrated loss of PTEN protein in 54.5% (24/44) of CRCs and no significant difference in PI3K p110α expression between CRCs and the adjacent normal colonic mucosa (p = 0.380). PIK3CA amplification was not associated with PI3K p110α expression level, but associated with male cases (100% of male cases vs 56% of female cases harbored amplified PIK3CA, p = 0.002). PI3K p110α expression was significantly higher (p = 0.041) in poorly/moderately differentiated carcinoma compared with well‐differentiated carcinoma. KRAS mutation, PIK3CA amplification, PTEN loss, and PI3K p110α expression did not correlate with Akt phosphorylation or Ki‐67 expression. KRAS mutation, PIK3CA amplification, and PTEN loss were not mutually exclusive. This is the first report on CRC in Malaysia showing comparable frequency of KRAS mutation and PTEN loss, lower BRAF mutation rate, higher PIK3CA amplification frequency, and rare PTEN mutation, as compared with published reports. 相似文献
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Colette Kananura Thomas Sander Sindhu Rajan Regina Preisig‐Müller Karl‐Heinz Grzeschik Jürgen Daut Christian Derst Ortrud K. Steinlein 《American journal of medical genetics. Part A》2002,114(2):227-229
Recently, the gene coding for the tandem pore domain K+‐channel TASK‐3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK‐3 gene in 65 patients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK‐3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK‐3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. © 2002 Wiley‐Liss, Inc. 相似文献
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Daniel Wetterskog Paul M Wilkerson Daniel N Rodrigues Maryou B Lambros Karen Fritchie Mattias K Andersson Rachael Natrajan Arnaud Gauthier Silvana Di Palma Sami Shousha Zoran Gatalica Chantal Töpfer Vesna Vukovic Roger A'Hern Britta Weigelt Anne Vincent‐Salomon Göran Stenman Brian P Rubin Jorge S Reis‐Filho 《Histopathology》2013,62(4):543-550
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Incidence,clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas 下载免费PDF全文
Marion Classe Gabriel G Malouf Xiaoping Su Hui Yao Erika J Thompson Denaha J Doss Valérie Grégoire Julien Lenobin Jean‐Christophe Fantoni Hélène Sudour‐Bonnange David Khayat Sébastien Aubert Nizar M Tannir Xavier Leroy 《Histopathology》2017,70(7):1089-1097
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Sophie Edouard Hervé Tissot‐Dupont Grégory Dubourg Annick Bernard Pierre‐Edouard Fournier Isabelle Ravaux Andreas Stein Didier Raoult 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2017,125(10):916-920
M. genitalium is a reemerging microorganism, responsible for sexually transmissible infections (STIs), with prevalence which varies depending on the country and population group studied. We report here M. genitalium prevalence among the specimens received for STI diagnosis in our routine microbiological laboratory in the university hospital in Marseille, France. We tested 4 624 samples from 3 793 patients using qPCR for M. genitalium, C. trachomatis, N. gonorrheae, T. pallidum. Of these samples, 528 (13.6%) patients were tested positive for at least one pathogen and 126 (3.3%) were positive for M. genitalium. M. genitalium is the second most prevalent micro‐organism detected in women after C. trachomatis (10.4%) and the third most prevalent in men after C. trachomatis (5.1%) and N. gonorrhoeae (4.4%). We observed no significant differences between the prevalence of M. genitalium in vaginal, urethral and urine specimens (p = 0.9). Prevalence of M. genitalium is significantly higher in patients aged between 10–30 years (4.1%) compared to those aged between 30 and 50 years (2.7%) (p = 0.02, RR = 1.54 [1.06–2.24]) and patients over 50 years of age (1.1%) (p = 0.003, RR= 3.98 [1.47–10.8]). M. genitalium is a common agent of STI, therefore we suggest that this micro‐organism should be systematically tested during chronic, recurrent, or antibiotic resistant genital infections and in populations at high‐risk of STIs. 相似文献
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Multiple and bilateral kidney tumors with clear cells of three different histotypes: A case report with clinicopathologic and molecular study 下载免费PDF全文
Maria Rosaria Raspollini Francesca Castiglione Guido Martignoni Alberto Lapini Liang Cheng Rodolfo Montironi Antonio Lopez‐Beltran 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(7):619-623
We describe a rare multicentric neoplastic disease arising bilteraly in the kidney. The patient was a 70‐year‐old man, who, during a period of 3 years, was treated for five independent tumors of three histotypes (three multilocular cystic clear cell renal cell neoplasms of low malignant potential, one clear cell renal cell carcinoma, and one clear cell papillary renal cell carcinoma, respectively). Pathologic diagnosis of the reported tumors was confirmed by immunohistochemical analyses, including CD10, CA IX, CK7, AMACR/RACEMASE, and 34 beta E12. Molecular detection of KRAS, BRAF, NRAS, PIK3CA, ALK, ERBB2, DDR2, MAP2K1, RET, and EGFR gene mutational analysis was also performed in all tumors. 相似文献
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Relevance of spontaneous fabT mutations to a streptococcal toxic shock syndrome to non‐streptococcal toxic shock syndrome transition in the novel‐type Streptococcus pyogenes isolates that lost a salRK 下载免费PDF全文
Ichiro Tatsuno Ryo Okada Masakado Matsumoto Nanako Hata Hideyuki Matsui Yan Zhang Masanori Isaka Tadao Hasegawa 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(5):414-424
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Identification and characterization of genes,encoding the 3‐hydroxybutyrate dehydrogenase and a putative lipase,in an avirulent spontaneous Legionella pneumophila serogroup 6 mutant 下载免费PDF全文
Maria Scaturro Cristina Barello Melania De Giusti Stefano Fontana Federica Pinci Maria Gabriella Giuffrida Maria Luisa Ricci 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2015,123(4):330-341
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Tyler F. Beck Philippe M. Campeau Shalini N. Jhangiani Tomasz Gambin Alexander H. Li Reem Abo‐Zahrah Valerie K. Jordan Andres Hernandez‐Garcia Wojciech K. Wiszniewski Donna Muzny Richard A. Gibbs Eric Boerwinkle James R. Lupski Brendan Lee Willie Reardon Daryl A. Scott 《American journal of medical genetics. Part A》2015,167(4):831-836
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Detection and characterization of a bacteriocin,putadicin T01, produced by Pseudomonas putida isolated from hot spring water 下载免费PDF全文
Taoufik Ghrairi Olfa Ben Braiek Khaled Hani 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2015,123(3):260-268
Pseudomonas strains isolated from hot spring water were tested for bacteriocin‐like substance (BLS) production using a target panel of closely related microorganisms and other Gram‐positive and Gram‐negative bacteria. Molecular identification was carried out through specific PCR and 16S RNA sequence analysis. Isolates were identified as Brevundimonas diminuta and Pseudomonas putida, the latter exhibited antimicrobial activity. Pseudomonas putida strains produce an inhibitory substance against other Pseudomonas strains and other species including food‐borne pathogens. The BLS was sensitive to the proteolytic action of proteinase K, pronase E and trypsin but resistant to α‐amylase, RNase and lipase C, reflecting its proteinaceous nature. The BLS was stable at 100 °C and also after thermal treatment at 121 °C for 15 min. Additionally, it was stable within a wide range of pH (2–10). The substance from P. putida T01 strain was bactericidal to Escherichia coli. SDS‐PAGE analysis of the partial purified supernatant of strain T01 revealed a BLS with an approximate molecular mass of 8 kDa. Therefore, the results of this study show that P. putida strain T01 produces a BLS with a higher activity spectrum, which may find application in human medicine and in minimally processed food preservation. 相似文献
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