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Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Cellular and molecular gastroenterology and hepatology

Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM.
PMID: 26207260
Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. doi: 10.1016/j.jcmgh.2015.05.001.

BACKGROUND & AIMS METHODS: Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole exome sequencing (WES) to examine the genetic cause in a patient with a distinct severe form of...

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Elkadri A, Thoeni C, Deharvengt SJ, et al. Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cell Mol Gastroenterol Hepatol. 2015;1(4):381-394.e7doi: 10.1016/j.jcmgh.2015.05.001.
Elkadri, A., Thoeni, C., Deharvengt, S. J., Murchie, R., Guo, C., Stavropoulos, J. D., Marshall, C. R., Wales, P., Bandsma, R., Cutz, E., Roifman, C. M., Chitayat, D., Avitzur, Y., Stan, R. V., & Muise, A. M. (2015). Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cellular and molecular gastroenterology and hepatology, 1(4), 381-394.e7. https://doi.org/10.1016/j.jcmgh.2015.05.001
Elkadri, Abdul, et al. "Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia." Cellular and molecular gastroenterology and hepatology vol. 1,4 (2015): 381-394.e7. doi: https://doi.org/10.1016/j.jcmgh.2015.05.001
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM. Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. doi: 10.1016/j.jcmgh.2015.05.001. PMID: 26207260; PMCID: PMC4507283.
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Cross-platform normalization of microarray and RNA-seq data for machine learning applications.

PeerJ

Thompson JA, Tan J, Greene CS.
PMID: 26844019
PeerJ. 2016 Jan 21;4:e1621. doi: 10.7717/peerj.1621. eCollection 2016.

Large, publicly available gene expression datasets are often analyzed with the aid of machine learning algorithms. Although RNA-seq is increasingly the technology of choice, a wealth of expression data already exist in the form of microarray data. If machine...

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Thompson JA, Tan J, Greene CS. Cross-platform normalization of microarray and RNA-seq data for machine learning applications. PeerJ. 2016;4:e1621doi: 10.7717/peerj.1621.
Thompson, J. A., Tan, J., & Greene, C. S. (2016). Cross-platform normalization of microarray and RNA-seq data for machine learning applications. PeerJ, 4e1621. https://doi.org/10.7717/peerj.1621
Thompson, Jeffrey A, et al. "Cross-platform normalization of microarray and RNA-seq data for machine learning applications." PeerJ vol. 4 (2016): e1621. doi: https://doi.org/10.7717/peerj.1621
Thompson JA, Tan J, Greene CS. Cross-platform normalization of microarray and RNA-seq data for machine learning applications. PeerJ. 2016 Jan 21;4:e1621. doi: 10.7717/peerj.1621. eCollection 2016. PMID: 26844019; PMCID: PMC4736986.
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The .

The American statistician

Demidenko E.
PMID: 27226647
Am Stat. 2016 Jan 02;70(1):33-38. doi: 10.1080/00031305.2015.1069760. Epub 2016 Mar 31.

There is growing frustration with the concept of the

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Demidenko E. The . Am Stat. 2016;70(1):33-38doi: 10.1080/00031305.2015.1069760.
Demidenko, E. (2016). The . The American statistician, 70(1), 33-38. https://doi.org/10.1080/00031305.2015.1069760
Demidenko, Eugene. "The ." The American statistician vol. 70,1 (2016): 33-38. doi: https://doi.org/10.1080/00031305.2015.1069760
Demidenko E. The . Am Stat. 2016 Jan 02;70(1):33-38. doi: 10.1080/00031305.2015.1069760. Epub 2016 Mar 31. PMID: 27226647; PMCID: PMC4867863.
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Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity.

Frontiers in behavioral neuroscience

Conradt E, Fei M, LaGasse L, Tronick E, Guerin D, Gorman D, Marsit CJ, Lester BM.
PMID: 26074794
Front Behav Neurosci. 2015 May 29;9:130. doi: 10.3389/fnbeh.2015.00130. eCollection 2015.

We examined whether placental DNA methylation of the glucocorticoid receptor gene, NR3C1 was associated with self-regulation and neuroendocrine responses to a social stressor in infancy. Placenta samples were obtained at birth and mothers and their infants (n = 128)...

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Conradt E, Fei M, LaGasse L, et al. Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity. Front Behav Neurosci. 2015;9:130doi: 10.3389/fnbeh.2015.00130.
Conradt, E., Fei, M., LaGasse, L., Tronick, E., Guerin, D., Gorman, D., Marsit, C. J., & Lester, B. M. (2015). Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity. Frontiers in behavioral neuroscience, 9130. https://doi.org/10.3389/fnbeh.2015.00130
Conradt, Elisabeth, et al. "Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity." Frontiers in behavioral neuroscience vol. 9 (2015): 130. doi: https://doi.org/10.3389/fnbeh.2015.00130
Conradt E, Fei M, LaGasse L, Tronick E, Guerin D, Gorman D, Marsit CJ, Lester BM. Prenatal predictors of infant self-regulation: the contributions of placental DNA methylation of NR3C1 and neuroendocrine activity. Front Behav Neurosci. 2015 May 29;9:130. doi: 10.3389/fnbeh.2015.00130. eCollection 2015. PMID: 26074794; PMCID: PMC4448036.
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An Immunofluorescence-Assisted Microfluidic Single Cell Quantitative Reverse Transcription Polymerase Chain Reaction Analysis of Tumour Cells Separated from Blood.

Journal of circulating biomarkers

Hoshino K, Chung H, Wu CH, Rajendran K, Huang YY, Chen P, Sokolov KV, Kim J, Zhang JXJ.
PMID: 28936247
J Circ Biomark. 2015 Nov 02;4:11. doi: 10.5772/61822. eCollection 2015.

Circulating tumour cells (CTCs) are important indicators of metastatic cancer and may provide critical information for individualized treatment. As CTCs are usually very rare, the techniques to obtain information from very small numbers of cells are crucial. Here, we...

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Hoshino K, Chung H, Wu CH, et al. An Immunofluorescence-Assisted Microfluidic Single Cell Quantitative Reverse Transcription Polymerase Chain Reaction Analysis of Tumour Cells Separated from Blood. J Circ Biomark. 2015;4:11doi: 10.5772/61822.
Hoshino, K., Chung, H., Wu, C. H., Rajendran, K., Huang, Y. Y., Chen, P., Sokolov, K. V., Kim, J., & Zhang, J. X. J. (2015). An Immunofluorescence-Assisted Microfluidic Single Cell Quantitative Reverse Transcription Polymerase Chain Reaction Analysis of Tumour Cells Separated from Blood. Journal of circulating biomarkers, 411. https://doi.org/10.5772/61822
Hoshino, Kazunori, et al. "An Immunofluorescence-Assisted Microfluidic Single Cell Quantitative Reverse Transcription Polymerase Chain Reaction Analysis of Tumour Cells Separated from Blood." Journal of circulating biomarkers vol. 4 (2015): 11. doi: https://doi.org/10.5772/61822
Hoshino K, Chung H, Wu CH, Rajendran K, Huang YY, Chen P, Sokolov KV, Kim J, Zhang JXJ. An Immunofluorescence-Assisted Microfluidic Single Cell Quantitative Reverse Transcription Polymerase Chain Reaction Analysis of Tumour Cells Separated from Blood. J Circ Biomark. 2015 Nov 02;4:11. doi: 10.5772/61822. eCollection 2015. PMID: 28936247; PMCID: PMC5572989.
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In vivo Cigarette Smoke Exposure Decreases CCL20, SLPI, and BD-1 Secretion by Human Primary Nasal Epithelial Cells.

Frontiers in psychiatry

Jukosky J, Gosselin BJ, Foley L, Dechen T, Fiering S, Crane-Godreau MA.
PMID: 26793127
Front Psychiatry. 2016 Jan 13;6:185. doi: 10.3389/fpsyt.2015.00185. eCollection 2015.

Smokers and individuals exposed to second-hand cigarette smoke have a higher risk of developing chronic sinus and bronchial infections. This suggests that cigarette smoke (CS) has adverse effects on immune defenses against pathogens. Epithelial cells are important in airway...

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Jukosky J, Gosselin BJ, Foley L, et al. In vivo Cigarette Smoke Exposure Decreases CCL20, SLPI, and BD-1 Secretion by Human Primary Nasal Epithelial Cells. Front Psychiatry. 2016;6:185doi: 10.3389/fpsyt.2015.00185.
Jukosky, J., Gosselin, B. J., Foley, L., Dechen, T., Fiering, S., & Crane-Godreau, M. A. (2015). In vivo Cigarette Smoke Exposure Decreases CCL20, SLPI, and BD-1 Secretion by Human Primary Nasal Epithelial Cells. Frontiers in psychiatry, 6185. https://doi.org/10.3389/fpsyt.2015.00185
Jukosky, James, et al. "In vivo Cigarette Smoke Exposure Decreases CCL20, SLPI, and BD-1 Secretion by Human Primary Nasal Epithelial Cells." Frontiers in psychiatry vol. 6 (2015): 185. doi: https://doi.org/10.3389/fpsyt.2015.00185
Jukosky J, Gosselin BJ, Foley L, Dechen T, Fiering S, Crane-Godreau MA. In vivo Cigarette Smoke Exposure Decreases CCL20, SLPI, and BD-1 Secretion by Human Primary Nasal Epithelial Cells. Front Psychiatry. 2016 Jan 13;6:185. doi: 10.3389/fpsyt.2015.00185. eCollection 2015. PMID: 26793127; PMCID: PMC4710704.
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Fatty acids increase neuronal hypertrophy of Pten knockdown neurons.

Frontiers in molecular neuroscience

Fricano CJ, Despenza T, Frazel PW, Li M, O'Malley AJ, Westbrook GL, Luikart BW.
PMID: 24795563
Front Mol Neurosci. 2014 Apr 23;7:30. doi: 10.3389/fnmol.2014.00030. eCollection 2014.

Phosphatase and tensin homolog (Pten) catalyzes the reverse reaction of PI3K by dephosphorylating PIP3 to PIP2. This negatively regulates downstream Akt/mTOR/S6 signaling resulting in decreased cellular growth and proliferation. Co-injection of a lentivirus knocking Pten down with a control...

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Fricano CJ, Despenza T, Frazel PW, et al. Fatty acids increase neuronal hypertrophy of Pten knockdown neurons. Front Mol Neurosci. 2014;7:30doi: 10.3389/fnmol.2014.00030.
Fricano, C. J., Despenza, T., Frazel, P. W., Li, M., O'Malley, A. J., Westbrook, G. L., & Luikart, B. W. (2014). Fatty acids increase neuronal hypertrophy of Pten knockdown neurons. Frontiers in molecular neuroscience, 730. https://doi.org/10.3389/fnmol.2014.00030
Fricano, Catherine J, et al. "Fatty acids increase neuronal hypertrophy of Pten knockdown neurons." Frontiers in molecular neuroscience vol. 7 (2014): 30. doi: https://doi.org/10.3389/fnmol.2014.00030
Fricano CJ, Despenza T, Frazel PW, Li M, O'Malley AJ, Westbrook GL, Luikart BW. Fatty acids increase neuronal hypertrophy of Pten knockdown neurons. Front Mol Neurosci. 2014 Apr 23;7:30. doi: 10.3389/fnmol.2014.00030. eCollection 2014. PMID: 24795563; PMCID: PMC4006057.
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An updated h-index measures both the primary and total scientific output of a researcher.

Discoveries (Craiova, Romania)

Bucur O, Almasan A, Zubarev R, Friedman M, Nicolson GL, Sumazin P, Leabu M, Nikolajczyk BS, Avram D, Kunej T, Calin GA, Godwin AK, Adami HO, Zaphiropoulos PG, Richardson DR, Schmitt-Ulms G, Westerblad H, Keniry M, Grau GE, Carbonetto S, Stan RV, Popa-Wagner A, Takhar K, Baron BW, Galardy PJ, Yang F, Data D, Fadare O, Yeo KJ, Gabreanu GR, Andrei S, Soare GR, Nelson MA, Liehn EA.
PMID: 26504901
Discoveries (Craiova). 2015 Jul-Sep;3(3). doi: 10.15190/d.2015.42. Epub 2015 Sep 30.

The growing interest in scientometry stems from ethical concerns related to the proper evaluation of scientific contributions of an author working in a hard science. In the absence of a consensus, institutions may use arbitrary methods for evaluating scientists...

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Bucur O, Almasan A, Zubarev R, et al. An updated h-index measures both the primary and total scientific output of a researcher. Discoveries (Craiova). 2015;3(3)doi: 10.15190/d.2015.42.
Bucur, O., Almasan, A., Zubarev, R., Friedman, M., Nicolson, G. L., Sumazin, P., Leabu, M., Nikolajczyk, B. S., Avram, D., Kunej, T., Calin, G. A., Godwin, A. K., Adami, H. O., Zaphiropoulos, P. G., Richardson, D. R., Schmitt-Ulms, G., Westerblad, H., Keniry, M., Grau, G. E., Carbonetto, S., Stan, R. V., Popa-Wagner, A., Takhar, K., Baron, B. W., Galardy, P. J., Yang, F., Data, D., Fadare, O., Yeo, K. J., Gabreanu, G. R., Andrei, S., Soare, G. R., Nelson, M. A., & Liehn, E. A. (2015). An updated h-index measures both the primary and total scientific output of a researcher. Discoveries (Craiova, Romania), 3(3), . https://doi.org/10.15190/d.2015.42
Bucur, Octavian, et al. "An updated h-index measures both the primary and total scientific output of a researcher." Discoveries (Craiova, Romania) vol. 3,3 (2015). doi: https://doi.org/10.15190/d.2015.42
Bucur O, Almasan A, Zubarev R, Friedman M, Nicolson GL, Sumazin P, Leabu M, Nikolajczyk BS, Avram D, Kunej T, Calin GA, Godwin AK, Adami HO, Zaphiropoulos PG, Richardson DR, Schmitt-Ulms G, Westerblad H, Keniry M, Grau GE, Carbonetto S, Stan RV, Popa-Wagner A, Takhar K, Baron BW, Galardy PJ, Yang F, Data D, Fadare O, Yeo KJ, Gabreanu GR, Andrei S, Soare GR, Nelson MA, Liehn EA. An updated h-index measures both the primary and total scientific output of a researcher. Discoveries (Craiova). 2015 Jul-Sep;3(3). doi: 10.15190/d.2015.42. Epub 2015 Sep 30. PMID: 26504901; PMCID: PMC4617786.
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Confidence intervals and bands for the binormal ROC curve revisited.

Journal of applied statistics

Demidenko E.
PMID: 22523442
J Appl Stat. 2012 Jan 01;39(1):67-79. doi: 10.1080/02664763.2011.578616. Epub 2011 Dec 12.

Two types of confidence intervals (CIs) and confidence bands (CBs) for the receiver operating characteristic (ROC) curve are studied: pointwise CIs and simultaneous CBs. An optimized version of the pointwise CI with the shortest width is developed. A new...

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Demidenko E. Confidence intervals and bands for the binormal ROC curve revisited. J Appl Stat. 2011;39(1):67-79doi: 10.1080/02664763.2011.578616.
Demidenko, E. (2012). Confidence intervals and bands for the binormal ROC curve revisited. Journal of applied statistics, 39(1), 67-79. https://doi.org/10.1080/02664763.2011.578616
Demidenko, Eugene. "Confidence intervals and bands for the binormal ROC curve revisited." Journal of applied statistics vol. 39,1 (2012): 67-79. doi: https://doi.org/10.1080/02664763.2011.578616
Demidenko E. Confidence intervals and bands for the binormal ROC curve revisited. J Appl Stat. 2012 Jan 01;39(1):67-79. doi: 10.1080/02664763.2011.578616. Epub 2011 Dec 12. PMID: 22523442; PMCID: PMC3329129.
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Handheld Diffuse Reflectance Spectral Imaging (DRSi) for in-vivo characterization of skin.

Biomedical optics express

Bish SF, Sharma M, Wang Y, Triesault NJ, Reichenberg JS, Zhang JX, Tunnell JW.
PMID: 24575350
Biomed Opt Express. 2014 Jan 24;5(2):573-86. doi: 10.1364/BOE.5.000573. eCollection 2014 Feb 01.

Diffuse reflectance spectroscopy provides a noninvasive means to measure optical and physiological properties of tissues. To expand on these measurements, we have developed a handheld diffuse reflectance spectral imaging (DRSi) system capable of acquiring wide field hyperspectral images of...

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Bish SF, Sharma M, Wang Y, et al. Handheld Diffuse Reflectance Spectral Imaging (DRSi) for in-vivo characterization of skin. Biomed Opt Express. 2014;5(2):573-86doi: 10.1364/BOE.5.000573.
Bish, S. F., Sharma, M., Wang, Y., Triesault, N. J., Reichenberg, J. S., Zhang, J. X., & Tunnell, J. W. (2014). Handheld Diffuse Reflectance Spectral Imaging (DRSi) for in-vivo characterization of skin. Biomedical optics express, 5(2), 573-86. https://doi.org/10.1364/BOE.5.000573
Bish, Sheldon F, et al. "Handheld Diffuse Reflectance Spectral Imaging (DRSi) for in-vivo characterization of skin." Biomedical optics express vol. 5,2 (2014): 573-86. doi: https://doi.org/10.1364/BOE.5.000573
Bish SF, Sharma M, Wang Y, Triesault NJ, Reichenberg JS, Zhang JX, Tunnell JW. Handheld Diffuse Reflectance Spectral Imaging (DRSi) for in-vivo characterization of skin. Biomed Opt Express. 2014 Jan 24;5(2):573-86. doi: 10.1364/BOE.5.000573. eCollection 2014 Feb 01. PMID: 24575350; PMCID: PMC3920886.
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A GAMOS plug-in for GEANT4 based Monte Carlo simulation of radiation-induced light transport in biological media.

Biomedical optics express

Glaser AK, Kanick SC, Zhang R, Arce P, Pogue BW.
PMID: 23667790
Biomed Opt Express. 2013 Apr 17;4(5):741-59. doi: 10.1364/BOE.4.000741. Print 2013 May 01.

We describe a tissue optics plug-in that interfaces with the GEANT4/GAMOS Monte Carlo (MC) architecture, providing a means of simulating radiation-induced light transport in biological media for the first time. Specifically, we focus on the simulation of light transport...

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Glaser AK, Kanick SC, Zhang R, et al. A GAMOS plug-in for GEANT4 based Monte Carlo simulation of radiation-induced light transport in biological media. Biomed Opt Express. 2013;4(5):741-59doi: 10.1364/BOE.4.000741.
Glaser, A. K., Kanick, S. C., Zhang, R., Arce, P., & Pogue, B. W. (2013). A GAMOS plug-in for GEANT4 based Monte Carlo simulation of radiation-induced light transport in biological media. Biomedical optics express, 4(5), 741-59. https://doi.org/10.1364/BOE.4.000741
Glaser, Adam K, et al. "A GAMOS plug-in for GEANT4 based Monte Carlo simulation of radiation-induced light transport in biological media." Biomedical optics express vol. 4,5 (2013): 741-59. doi: https://doi.org/10.1364/BOE.4.000741
Glaser AK, Kanick SC, Zhang R, Arce P, Pogue BW. A GAMOS plug-in for GEANT4 based Monte Carlo simulation of radiation-induced light transport in biological media. Biomed Opt Express. 2013 Apr 17;4(5):741-59. doi: 10.1364/BOE.4.000741. Print 2013 May 01. PMID: 23667790; PMCID: PMC3646601.
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The multiscale backbone of the human phenotype network based on biological pathways.

BioData mining

Darabos C, White MJ, Graham BE, Leung DN, Williams SM, Moore JH.
PMID: 24460644
BioData Min. 2014 Jan 25;7(1):1. doi: 10.1186/1756-0381-7-1.

BACKGROUND: Networks are commonly used to represent and analyze large and complex systems of interacting elements. In systems biology, human disease networks show interactions between disorders sharing common genetic background. We built pathway-based human phenotype network (PHPN) of over...

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Darabos C, White MJ, Graham BE, et al. The multiscale backbone of the human phenotype network based on biological pathways. BioData Min. 2014;7(1):1doi: 10.1186/1756-0381-7-1.
Darabos, C., White, M. J., Graham, B. E., Leung, D. N., Williams, S. M., & Moore, J. H. (2014). The multiscale backbone of the human phenotype network based on biological pathways. BioData mining, 7(1), 1. https://doi.org/10.1186/1756-0381-7-1
Darabos, Christian, et al. "The multiscale backbone of the human phenotype network based on biological pathways." BioData mining vol. 7,1 (2014): 1. doi: https://doi.org/10.1186/1756-0381-7-1
Darabos C, White MJ, Graham BE, Leung DN, Williams SM, Moore JH. The multiscale backbone of the human phenotype network based on biological pathways. BioData Min. 2014 Jan 25;7(1):1. doi: 10.1186/1756-0381-7-1. PMID: 24460644; PMCID: PMC3924922.
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Showing 1 to 12 of 188 entries