Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the Smart Amplification Process (SmartAmp) method

Inoue, Yoshinobu; Mori, Terumi; Toyoda, Yu; Sakurai, Aki; Ishikawa, Toshihisa; Mitani, Yuichiro; Hayashizaki, Yoshihide; Yoshimura, Yasushi; Kurahashi, Hiroki; Sakai, Yasuo

doi:10.1016/j.bjps.2009.06.029

Cited by 29 publications

(40 citation statements)

References 27 publications

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“…The WT of ABCC11 has been found to be genetically linked with axillary osmidrosis, which is recognized as a disease covered by the national health insurance system in Japan. [50][51][52] Hitherto a total of 10 nonsynonymous polymorphisms have been identified in the ABCC11 gene ( Fig. 2).…”

Section: Abcc11 (Multidrug Resistance-associated Protein 8)mentioning

confidence: 99%

Ubiquitin-Mediated Proteasomal Degradation of ABC Transporters: a New Aspect of Genetic Polymorphisms and Clinical Impacts

Nakagawa

Toyoda

Wakabayashi‐Nakao

et al. 2011

Journal of Pharmaceutical Sciences

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Section: Abcc11 (Multidrug Resistance-associated Protein 8)mentioning

confidence: 99%

Ubiquitin-Mediated Proteasomal Degradation of ABC Transporters: a New Aspect of Genetic Polymorphisms and Clinical Impacts

Nakagawa

Toyoda

Wakabayashi‐Nakao

et al. 2011

Journal of Pharmaceutical Sciences

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“…Similarly, ABCC11 genotype is responsible for the secretion in the axillary apocrine gland [29], and axillary osmidrosis [11, 20, 30]. In addition, ABCC11 genotype is also responsible for secretion of colostrum [20].…”

Section: Discussionmentioning

confidence: 99%

“…In summary, a SNP (538G>A, Gly180Arg) in the ABCC11 gene determines the type of earwax, and the GG homozygous and GA heterozygous genotypes correspond to wet earwax [35]. Similarly, ABCC11 wild type is responsible for the secretion of pre-odoriferous compounds from the axillary apocrine gland [27], and associated with axillary osmidrosis [11, 21, 30]. In addition, ABCC11/MRP8 plays a role in colostrum secretion by acting as an efflux pump and is a peripheral factor independent of endocrine control [20].…”

Section: Introductionmentioning

confidence: 99%

ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion

Matsumoto

Tsuchiya

Yoshiura

et al. 2014

Acta Histochem. Cytochem

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ATP-binding cassette (ABC) transporters are involved in chemotherapy resistance. Multidrug-resistance protein 8 (ABCC11/MRP8) is also involved in 5-fluorouracil (5-FU) metabolism. 5-FU and its derivatives are widely used in the treatment of gastrointestinal tract cancers, but little is known about the contribution of ABCC11/MRP8 to gastrointestinal tract and related cancers. Here, we report our investigation of ABCC11/MRP8 expression in normal and cancerous gastrointestinal tract tissues and reveal its novel role in the gastric mucosa. In tissue microarray and surgically resected cancer specimens, immunohistochemical (IHC) staining revealed significantly reduced expression of ABCC11/MRP8 in gastrointestinal tract cancers compared with other cancers. In contrast, strong ABCC11/MRP8 expression was observed in normal gastric mucosa. Additional immunofluorescence assays revealed co-localization of ABCC11/MRP8 and pepsinogen I in normal gastric chief cells. Quantitative PCR and Western blot analysis also revealed significant expression of ABCC11/MRP8 in fundic mucosa where the chief cells are mainly located. Furthermore, the ABCC11 mRNA-suppressed NCI-N87 gastric cancer cell line failed to secret pepsinogen I extracellularly. Thus, low expression of ABCC11/MRP8 is consistent with chemotherapeutic regimens using 5-FU and its derivatives in gastrointestinal tract cancers. Our results indicated a novel function of ABCC11/MRP8 in the regulation of pepsinogen I secretion in the normal gastric chief cells.

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“…product development. A variety of different SNP detection methods have lately been described [169][170][171]. Kawai et al report about a first Influenza A (H1N1) assay, combining both a reverse transcriptase and a SmartAmp amplification in one-step setup.…”

Section: Various Other Methodsmentioning

confidence: 99%

Isothermal Amplification and Quantification of Nucleic Acids and its Use in Microsystems

Tröger¹,

Niemann²,

Gärtig³

et al. 2015

J Nanomed Nanotechnol

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Nucleic acid amplification technologies (NAATs) offer the most sensitive tests in the clinical laboratory. These techniques are used as a powerful tool for screening and diagnosis of infectious diseases. Isothermal methods, as an alternative to polymerase chain reaction (PCR), require no thermocycling machine and can mostly be performed with reduced time, high throughput, and accurate and reliable results.However, current molecular diagnostic approaches generally need manual analysis by qualified and experienced personal which is a highly complex, time-consuming and labor-intensive task. Thus, the demand for simpler, miniaturized systems and assays for pathogen detection is steadily increasing. Microfluidic platforms and lab-on-a-chip devices have many advantages such as small sample volume, portability and rapid detection time and enable point-of-care diagnosis.In this article, we review several isothermal amplification methods and their implementation in microsystems in relation to quantification of nucleic acids. miniaturized systems can be diverse. The majority of publications are focussed on clinical diagnostics including foodborne organisms for environmental monitoring [10][11][12]. In case of an infectious disease, cultivation and phenotypic characterization are still the standard methods of microbiologists which need days up to weeks to obtain a diagnostic result. Hence, scientists started to make use of nucleic acid amplification methods to accelerate the analysis. The most widespread and well known technique for this purpose is the polymerase chain reaction (PCR) [10,13], which exploits the activity of the DNA polymerase. The method is based on a thermal cycling process consisting of repeated cycles of heating and cooling steps allowing for DNA melting, sequence specific primer binding and enzymatic amplification of the target nucleic acid. The quantitative assessment of target copies is possible by using a real-time PCR approach, where a concentration dependent signal (e.g. fluorescence) increases over time [14]. The latter enables the user to easily assess the pathogen load of patient samples [15][16][17][18]. Since the first example of a PCR on a miniaturized system in 1994 [19,20], numerous devices were presented, which integrate not just the amplification, but also sample preparation and detection steps [9,[21][22][23][24][25][26][27][28]. Just a few of those microsystems have reached the market so far, but some have shown a fascinating potential to replace the classical laboratory-oriented state-of-the art [29][30][31][32][33]. setups has been shown to obtain a similar result [34]. A smaller heat capacity allows for rapid changes in temperature beneficial for the PCR time as well as a higher parallelism of multiple genetic samples [34].However, a major drawback of the integration of PCR to microsystems is the necessity of sophisticated instrumentation. The reaction requires a thermal cycling instrumentation, space and considerable expertise [35]. Therefore, isothermal reactions for the ta...

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Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the Smart Amplification Process (SmartAmp) method

Cited by 29 publications

References 27 publications

Ubiquitin-Mediated Proteasomal Degradation of ABC Transporters: a New Aspect of Genetic Polymorphisms and Clinical Impacts

Ubiquitin-Mediated Proteasomal Degradation of ABC Transporters: a New Aspect of Genetic Polymorphisms and Clinical Impacts

ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion

Isothermal Amplification and Quantification of Nucleic Acids and its Use in Microsystems

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