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2. A torpor-like state (TLS) in mice slows blood epigenetic aging and prolongs healthspan

Author

Jayne, Lorna, primary, Lavin-Peter, Aurora, additional, Roessler, Julian, additional, Tyshkovskiy, Alexander, additional, Antoszewski, Mateusz, additional, Ren, Erika, additional, Markovski, Aleksandar, additional, Sun, Senmiao, additional, Yao, Hanqi, additional, Sankaran, Vijay G., additional, Gladyshev, Vadim N., additional, Brooke, Robert T., additional, Horvath, Steve, additional, Griffith, Eric C., additional, and Hrvatin, Sinisa, additional

Published
2024
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4. Neurons that regulate mouse torpor

Author

Hrvatin, Sinisa, Sun, Senmiao, Wilcox, Oren F., Yao, Hanqi, Lavin-Peter, Aurora J., Cicconet, Marcelo, Assad, Elena G., Palmer, Michaela E., Aronson, Sage, Banks, Alexander S., Griffith, Eric C., and Greenberg, Michael E.

Published
2020
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6. Ireland?s Authoritative Geospatial Linked Data

Author

Debruyne, Christophe, Meehan, Alan, Clinton, Éamonn, McNerney, Lorraine, Nautiyal, Atul, Lavin, Peter, O’Sullivan, Declan, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, d'Amato, Claudia, editor, Fernandez, Miriam, editor, Tamma, Valentina, editor, Lecue, Freddy, editor, Cudré-Mauroux, Philippe, editor, Sequeda, Juan, editor, Lange, Christoph, editor, and Heflin, Jeff, editor

Published
2017
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7. Towards Evaluating the Impact of Anaphora Resolution on Text Summarisation from a Human Perspective

Author

Bayomi, Mostafa, Levacher, Killian, Ghorab, M. Rami, Lavin, Peter, O’Connor, Alexander, Lawless, Séamus, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, Métais, Elisabeth, editor, Meziane, Farid, editor, Saraee, Mohamad, editor, Sugumaran, Vijayan, editor, and Vadera, Sunil, editor

Published
2016
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8. Text Summarization and Speech Synthesis for the Automated Generation of Personalized Audio Presentations

Author

Lawless, Séamus, Lavin, Peter, Bayomi, Mostafa, Cabral, João P., Ghorab, M. Rami, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, Biemann, Chris, editor, Handschuh, Siegfried, editor, Freitas, André, editor, Meziane, Farid, editor, and Métais, Elisabeth, editor

Published
2015
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9. The association between ambient UVB dose and ANCA-associated vasculitis relapse and onset

Author

Scott, Jennifer, Havyarimana, Enock, Navarro-Gallinad, Albert, White, Arthur, Wyse, Jason, van Geffen, Jos, van Weele, Michiel, Buettner, Antonia, Wanigasekera, Tamara, Walsh, Cathal, Aslett, Louis, Kelleher, John D., Power, Julie, Ng, James, O’Sullivan, Declan, Hederman, Lucy, Basu, Neil, Little, Mark A., Zgaga, Lina, Little, Mark, Lavin, Peter, Wall, Catherine, Mellotte, George, Fitzgerald, Ted, O’Keefe, Hannah, Dilworth, Rachel, O’Neill, Pamela, Carr, Vicki, Conlon, Niall, Griffin, Brenda, Sexton, Donal, Kosgei, Caroline, O’Meara, Yvonne, White, Eoghan, Mahony, Stephen, Molloy, Eamonn, Holian, John, Griffin, Matt, Lappin, David, Judge, Conor, Cormican, Sarah, O’Connell, Blathnaid, Clince, Michelle, Casserly, Liam, Clarkson, Michael, O’Shaughnessy, Michelle, Verrelli, Alyssa, Stoeman, Sinead, Daly, Fergus, Slattery, Laura, Murphy, Aisling, De Freitas, Declan, Conlon, Peter, Denton, Mark, Treanor, Carol, Magee, Colm, Seaghdha, Conall O., O’Hara, Paul, McGrath, Susan, Moloney, Brona, Moore, Dean, Kelly, Dearbhla, McCarthy, Mary, Obilana, Ayanfeoluwa, Kennedy, Claire, Connaughton, Dervla, Canney, Mark, Wong, Limy, Moran, Sarah, and Dr. Jennifer Scott is a Wellcome-HRB Irish Clinical Academic Training (ICAT) Fellow, and this work was performed within the Irish Clinical Academic Training (ICAT) Programme, supported by the Wellcome Trust and the Health Research Board (Grant Number 203930/B/16/Z), the Health Service Executive, National Doctors Training and Planning and the Health and Social Care, Research and Development Division, Northern Ireland. MAL received funding from Health Research Board/Irish Nephrology Society (MRCG-2016-12) and Science Foundation Ireland (13/RC/2106_P2 and 11/YI/B2093). ANG and EH received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No. 813545. The funders were not involved in any part of the study design, analysis or writing of the manuscript.

Subjects
Geoepidemiology, integumentary system, Ultraviolet Rays, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Environment, Vitamin D Deficiency, Recurrence, Chronic Disease, Medicine and Health Sciences, Humans, Ultraviolet B (UVB) radiation, Computer Engineering, Vitamin D, ANCA-associated vasculitis
Abstract

Background The aetiology of ANCA-associated vasculitis (AAV) and triggers of relapse are poorly understood. Vitamin D (vitD) is an important immunomodulator, potentially responsible for the observed latitudinal differences between granulomatous and non-granulomatous AAV phenotypes. A narrow ultraviolet B spectrum induces vitD synthesis (vitD-UVB) via the skin. We hypothesised that prolonged periods of low ambient UVB (and by extension vitD deficiency) are associated with the granulomatous form of the disease and an increased risk of AAV relapse. Methods Patients with AAV recruited to the Irish Rare Kidney Disease (RKD) (n = 439) and UKIVAS (n = 1961) registries were studied. Exposure variables comprised latitude and measures of ambient vitD-UVB, including cumulative weighted UVB dose (CW-D-UVB), a well-validated vitD proxy. An n-of-1 study design was used to examine the relapse risk using only the RKD dataset. Multi-level models and logistic regression were used to examine the effect of predictors on AAV relapse risk, phenotype and serotype. Results Residential latitude was positively correlated (OR 1.41, 95% CI 1.14–1.74, p = 0.002) and average vitD-UVB negatively correlated (0.82, 0.70–0.99, p = 0.04) with relapse risk, with a stronger effect when restricting to winter measurements (0.71, 0.57–0.89, p = 0.002). However, these associations were not restricted to granulomatous phenotypes. We observed no clear relationship between latitude, vitD-UVB or CW-D-UVB and AAV phenotype or serotype. Conclusion Our findings suggest that low winter ambient UVB and prolonged vitD status contribute to AAV relapse risk across all phenotypes. However, the development of a granulomatous phenotype does not appear to be directly vitD-mediated. Further research is needed to determine whether sufficient vitD status would reduce relapse propensity in AAV.

Published
2022

14. Additional file 1 of Exploring population pharmacokinetic models in patients treated with vancomycin during continuous venovenous haemodiafiltration (CVVHDF)

Author

Kirwan, Marcus, Munshi, Reema, O���Keeffe, Hannah, Judge, Conor, Coyle, Mary, Deasy, Evelyn, Kelly, Yvelynne P., Lavin, Peter J., Donnelly, Maria, and D���Arcy, Deirdre M.

Abstract

Additional file 1: Supplemental Table S1: Format of covariate analyses. Supplemental Table S2: Model comparison metrics from the base model, examples of ���best��� models (Qeff and flux as clearance covariates) and from model inclusion of Qb as covariate for clearance. Supplemental Figure S1: PTA plot for AUC of vancomycin at 24-48 hours of treatment. Supplemental Figure S2: PTA plots for peak vancomycin levels relating to the 36h dose, at A) 38h for the regimens with 500 mg and 750 mg 36h dose and B) at 39h for the regimen with 1500 mg given at 36h. ���Success��� reflects attainment of the relevant peak concentration at 38h, in this case considered to be a metric of toxicity if > 40 mg/L.

Published
2021
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16. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomeruosclerosis

Author

Akilesh, Shreeram, Suleiman, Hani, Yu, Haiyang, Stander, M. Christine, Lavin, Peter, Gbadegesin, Rasheed, Antignac, Corinne, Pollak, Martin, Kopp, Jeffrey B., Winn, Michelle P., and Shaw, Andrey S.

Subjects
Gene mutations -- Health aspects -- Research, Epithelial cells -- Physiological aspects -- Research, Kidney diseases -- Genetic aspects -- Research -- Risk factors, Health care industry
Abstract

The specialized epithelial cell of the kidney, the podocyte, has a complex actinbased cytoskeleton. Dynamic regulation of this cytoskeleton is required for efficient barrier function of the kidney. Podocytes are a useful cell type to study the control of the actin cytoskeleton in vivo, because disruption of components of the cytoskeleton results in podocyte damage, cell loss, and a prototypic injury response called focal segmental glomerulosclerosis (FSGS). Searching for actin regulatory proteins that are expressed in podocytes, we identified a RhoA-activated Rac1 GTPase-activating protein (Rac1-GAP), Arhgap24, that was upregulated in podocytes as they differentiated, both in vitro and in vivo. Increased levels of active Rac1 and Cdc42 were measured in Arhgap24 knockdown experiments, which influenced podocyte cell shape and membrane dynamics. Consistent with a role for Arhgap24 in normal podocyte functioning in vivo, sequencing of the ARHGAP24 gene in patients with FSGS identified a mutation that impaired its Rac1-GAP activity and was associated with disease in a family with FSGS. Thus, Arhgap24 contributes to the careful balancing of RhoA and Rac1 signaling in podocytes, the disruption of which may lead to kidney disease., Introduction The kidneys filter plasma and reabsorb solutes and nutrients to maintain the appropriate extracellular environment. The proximal component of the nephron, the glomerulus, is the primary filtration barrier that [...]

Published
2011
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18. Madonna Expiratory Respiratory Trainer (MERT): a self-practice device for improving the control of alveolar pressure (technical note)

Author

Hakel, Mark, Beukelman, David, Perez, Lance C., Lavin, Peter, and Kavan, Paul

Subjects
Speech disorders -- Care and treatment, Respiratory therapy -- Equipment and supplies, Health, Care and treatment, Product introduction
Abstract

Reduced respiratory drive for speech occurs in conjunction with a range of neurological conditions. Traditional interventions to increase respiratory drive may include laryngeal aerodynamic instrumentation, manometers, or use of a [...]

Published
2008

19. Neurons that regulate mouse torpor

Author

Hanqi Yao, Sage Aronson, Elena G. Assad, Oren F Wilcox, Michaela E. Palmer, Alexander S. Banks, Senmiao Sun, Sinisa Hrvatin, Marcelo Cicconet, Eric C. Griffith, Michael E. Greenberg, and Aurora J. Lavin-Peter

Subjects
0301 basic medicine, Male, Glutamine, Torpor, Population, Regulator, Hypothalamus, Biology, Article, Arousal, 03 medical and health sciences, Glutamatergic, Mice, 0302 clinical medicine, Neural Pathways, Homeothermy, Animals, education, Neurons, education.field_of_study, Multidisciplinary, Fasting, 030104 developmental biology, Pituitary Adenylate Cyclase-Activating Polypeptide, Female, Energy Metabolism, Food Deprivation, Neuroscience, 030217 neurology & neurosurgery, Homeostasis
Abstract

The advent of endothermy, which is achieved through the continuous homeostatic regulation of body temperature and metabolism1,2, is a defining feature of mammalian and avian evolution. However, when challenged by food deprivation or harsh environmental conditions, many mammalian species initiate adaptive energy-conserving survival strategies—including torpor and hibernation—during which their body temperature decreases far below its homeostatic set-point3–5. How homeothermic mammals initiate and regulate these hypothermic states remains largely unknown. Here we show that entry into mouse torpor, a fasting-induced state with a greatly decreased metabolic rate and a body temperature as low as 20 °C6, is regulated by neurons in the medial and lateral preoptic area of the hypothalamus. We show that restimulation of neurons that were activated during a previous bout of torpor is sufficient to initiate the key features of torpor, even in mice that are not calorically restricted. Among these neurons we identify a population of glutamatergic Adcyap1-positive cells, the activity of which accurately determines when mice naturally initiate and exit torpor, and the inhibition of which disrupts the natural process of torpor entry, maintenance and arousal. Taken together, our results reveal a specific neuronal population in the mouse hypothalamus that serves as a core regulator of torpor. This work forms a basis for the future exploration of mechanisms and circuitry that regulate extreme hypothermic and hypometabolic states, and enables genetic access to monitor, initiate, manipulate and study these ancient adaptations of homeotherm biology. A specific neuronal population in the medial and lateral preoptic area of the hypothalamus regulates entry into torpor in mice.

Published
2020

21. TRPC6 Enhances Angiotensin II-induced Albuminuria

Author

Eckel, Jason, Lavin, Peter J., Finch, Elizabeth A., Mukerji, Nirvan, Burch, Jarrett, Gbadegesin, Rasheed, Wu, Guanghong, Bowling, Brandy, Byrd, Alison, Hall, Gentzon, Sparks, Matthew, Zhang, Zhu Shan, Homstad, Alison, Barisoni, Laura, Birbaumer, Lutz, Rosenberg, Paul, and Winn, Michelle P.

Published
2011
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22. Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease

Author

Cormican, Sarah, primary, Kennedy, Claire, additional, Connaughton, Dervla M., additional, O'Kelly, Patrick, additional, Murray, Susan, additional, Živná, Martina, additional, Kmoch, Stanislav, additional, Fennelly, Neil K., additional, Benson, Katherine A., additional, Conlon, Eoin T., additional, Cavalleri, Gianpiero L., additional, Foley, Claire, additional, Doyle, Brendan, additional, Dorman, Anthony, additional, Little, Mark A., additional, Lavin, Peter, additional, Kidd, Kendrah, additional, Bleyer, Anthony J., additional, and Conlon, Peter J., additional

Published
2020
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23. Utility of Genomic Testing after Renal Biopsy

Author

Murray, Susan L., primary, Dorman, Anthony, additional, Benson, Katherine A., additional, Connaughton, Dervla M., additional, Stapleton, Caragh P., additional, Fennelly, Neil K., additional, Kennedy, Claire, additional, McDonnell, Ciara A., additional, Kidd, Kendrah, additional, Cormican, Sarah M., additional, Ryan, Louise A., additional, Lavin, Peter, additional, Little, Mark A., additional, Bleyer, Anthony J., additional, Doyle, Brendan, additional, Cavalleri, Gianpiero L., additional, Hildebrandt, Friedhelm, additional, and Conlon, Peter J., additional

Published
2019
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24. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Author

Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B., Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C., Alper, Seth L., Greka, Anna, Bleyer, Anthony J., Kmoch, Stanislav, Vyleťal, Petr, and Deltas, Constantinos [0000-0001-5549-9169]

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, 030232 urology & nephrology, General Medicine, Biology, medicine.disease, Frameshift mutation, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Nephrology, Gene duplication, medicine, Immunohistochemistry, Gene, Immunostaining, Kidney disease, Genetic testing
Abstract

Visual Overview Download figureOpen in new tabDownload powerpoint Background Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein. Methods We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-MUC1–positive and –negative controls as well as in individuals from 37 ADTKD families that were negative for mutations in known ADTKD genes. We used novel analytic methods to identify MUC1 frameshift mutations. Results After technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel MUC1 frameshift mutations that all predict production of the identical MUC1fs protein. Conclusions We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-MUC1. 29 9 2418 2431

Published
2018

25. Atrasentan and renal events in patients with type 2 diabetes and chronic kidney disease (SONAR): a double-blind, randomised, placebo-controlled trial

Author

Heerspink, Hiddo J L, primary, Parving, Hans-Henrik, additional, Andress, Dennis L, additional, Bakris, George, additional, Correa-Rotter, Ricardo, additional, Hou, Fan-Fan, additional, Kitzman, Dalane W, additional, Kohan, Donald, additional, Makino, Hirofumi, additional, McMurray, John J V, additional, Melnick, Joel Z, additional, Miller, Michael G, additional, Pergola, Pablo E, additional, Perkovic, Vlado, additional, Tobe, Sheldon, additional, Yi, Tingting, additional, Wigderson, Melissa, additional, de Zeeuw, Dick, additional, Elbert, Alicia, additional, Vallejos, Augusto, additional, Alvarisqueta, Andres, additional, Maffei, Laura, additional, Juncos, Luis, additional, de Arteaga, Javier, additional, Greloni, Gustavo, additional, Farias, Eduardo, additional, Zucchini, Alfredo, additional, Vogel, Daniel, additional, Cusumano, Ana, additional, Santos, Juan, additional, Fraenkel, Margaret, additional, Gallagher, Martin, additional, Davis, Tim, additional, Acharya, Shamasunder, additional, Cooke, Duncan, additional, Suranyi, Michael, additional, Roger, Simon, additional, Toussaint, Nigel, additional, Pollock, Carol, additional, Chan, Doris, additional, Stranks, Stephen, additional, MacIsaac, Richard, additional, Endre, Zoltan, additional, Schmidt, Alice, additional, Prager, Rudolf, additional, Mayer, Gert, additional, Warling, Xavier, additional, Jadoul, Michel, additional, Hougardy, Jean, additional, Vercammen, Chris, additional, Van Vlem, Bruno, additional, Gillard, Pieter, additional, Costa e Forti, Adriana, additional, Borges, Joao Lindolfo, additional, Santos Canani, Luis, additional, Eliaschewitz, Freddy, additional, Leite, Silmara, additional, Fraige Filho, Fadlo, additional, Paschoalin, Raphael, additional, Moura Neto, Jose Andrade, additional, Deboni, Luciane, additional, de Lourdes Noronha, Irene, additional, Cercato, Cintia, additional, Prompt, Carlos Alberto, additional, Zanella, Maria, additional, Rassi, Nelson, additional, D'Avila, Domingos, additional, Milagres, Rosangela, additional, Felicio, Joao, additional, Pecoits Filho, Roberto, additional, Riella, Miguel Carlos, additional, Salles, Joao, additional, Keitel, Elizete, additional, Draibe, Sergio, additional, Amodeo, Celso, additional, Youmbissi, Joseph, additional, Roy, Louise, additional, Cournoyer, Serge, additional, Jolly, Shivinder, additional, Pichette, Vincent, additional, Nesrallah, Gihad, additional, Bajaj, Harpreet Singh, additional, Khandwala, Hasnain, additional, Aronson, Ronnie, additional, Goluch, Richard, additional, Tam, Paul, additional, Rabbat, Christian, additional, Bailey, Gordon, additional, Chow, Stephen, additional, Castillo, Alvaro, additional, Danin Vargas, Alfredo, additional, Gonzalez, Fernando, additional, Munoz, Rodrigo, additional, Gutierrez, Vicente, additional, Godoy, Gonzalo, additional, Zhao, Hongwen, additional, Liu, Zhangsuo, additional, Zhao, Minghui, additional, Guo, Xiaohui, additional, Su, Benli, additional, Fu, Shuxia, additional, Xu, Yan, additional, Yang, Jinkui, additional, Shi, Bingyin, additional, Xiao, Guanqing, additional, Shi, Wei, additional, Hao, Chuanming, additional, Xing, Changying, additional, Hou, Fanfan, additional, Luo, Qun, additional, Li, Yuxiu, additional, Ji, Linong, additional, Zuo, Li, additional, Wang, Song, additional, Ni, Zhaohui, additional, Ding, Guohua, additional, Chen, Nan, additional, Zhao, Jiajun, additional, Jia, Weiping, additional, Yu, Shengqiang, additional, Weng, Jian, additional, Xu, Gang, additional, Fu, Ping, additional, Sun, Shiren, additional, Liu, Bicheng, additional, Ding, Xiaoqiang, additional, Rychlik, Ivan, additional, Oplustilova, Alexandra, additional, Bartaskova, Dagmar, additional, Honova, Vaclava, additional, Chmelickova, Hana, additional, Petr, Martin, additional, Bucek, Petr, additional, Tesar, Vladimir, additional, Zahumensky, Emil, additional, Povlsen, Johan, additional, Egstrup, Kenneth, additional, Oczachowska-Kulik, Anna, additional, Rossing, Peter, additional, Lahtela, Jorma, additional, Strand, Jorma, additional, Kantola, Ilkka, additional, Petit, Catherine, additional, Combe, Christian, additional, Zaoui, Philippe, additional, Esnault, Vincent, additional, Urena Torres, Pablo, additional, Halimi, Jean-Michel, additional, Dussol, Bertrand, additional, Bieler, Tasso, additional, Budde, Klemens, additional, Dellanna, Frank, additional, Segiet, Thomas, additional, Kosch, Christine, additional, Schmidt-Guertler, Hans, additional, Schenkenberger, Isabelle, additional, Vielhauer, Volker, additional, Pistrosch, Frank, additional, Alscher, Mark, additional, Hasslacher, Christoph, additional, Hugo, Christian, additional, Muehlfeld, Anja, additional, Wanner, Christoph, additional, Passadakis, Ploumis, additional, Apostolou, Theofanis, additional, Tentolouris, Nikolaos, additional, Stefanidis, Ioannis, additional, Mavromatidis, Konstantinos, additional, Liakopoulos, Vasilios, additional, Goumenos, Dimitrios, additional, Siamopoulos, Konstantinos, additional, Yeung, Vincent, additional, Ozaki, Risa, additional, Fung, Samuel, additional, Tan, Kathryn, additional, Tang, Sydney, additional, Lui, Sing Leung, additional, Cheung, Siu Fai, additional, Sreenan, Seamus, additional, Eustace, Joseph, additional, O'Shea, Donal, additional, Lavin, Peter, additional, Stack, Austin, additional, Yagil, Yoram, additional, Wainstein, Julio, additional, Knobler, Hilla, additional, Cohen, Josef, additional, Kenis, Irina, additional, Daoud, Deeb, additional, Bar-Dayan, Yosefa, additional, Frajewicki, Victor, additional, Adawi, Faiad, additional, Gesualdo, Loreto, additional, Santoro, Domenico, additional, Marino, Francesco, additional, Galfre, Andrea, additional, Brunati, Chiara, additional, Ruggenenti, Piero, additional, Rombola, Giuseppe, additional, Pugliese, Giuseppe, additional, Ravera, Maura, additional, Malberti, Fabio, additional, Pontoriero, Giuseppe, additional, Rampino, Teresa, additional, De Cosmo, Salvatore, additional, Esposito, Ciro, additional, Nappi, Felice, additional, Abaterusso, Cataldo, additional, Conte, Giuseppe, additional, Panichi, Vincenzo, additional, Lauro, Davide, additional, Capasso, Giovambattista, additional, Russo, Domenico, additional, Anzai, Jiichi, additional, Naka, Motoji, additional, Ato, Keita, additional, Tsujimoto, Tetsuro, additional, Nimura, Toshinori, additional, Nakashima, Eitaro, additional, Takeda, Tetsuro, additional, Fujii, Shinya, additional, Kobayashi, Kunihisa, additional, Iwaoka, Hideaki, additional, Nagayama, Koji, additional, Harada, Hiroyuki, additional, Maeda, Hajime, additional, Kishimoto, Rui, additional, Iitsuka, Tadashi, additional, Itabashi, Naoki, additional, Furuya, Ryuichi, additional, Maeda, Yoshitaka, additional, Yamada, Daishiro, additional, Sasaki, Nobuhiro, additional, Sasaki, Hiromitsu, additional, Ueda, Shinichiro, additional, Kashihara, Naoki, additional, Watanabe, Shuichi, additional, Nakamura, Takehiro, additional, Kanai, Hidetoshi, additional, Makita, Yuichiro, additional, Ono, Keiko, additional, Iehara, Noriyuki, additional, Goto, Daisuke, additional, Kosuge, Keiichiro, additional, Tsuchida, Kenichi, additional, Sato, Toshiaki, additional, Sekikawa, Takashi, additional, Okamoto, Hideki, additional, Tanaka, Tsuyoshi, additional, Ikeda, Naoko, additional, Tadika, Takenobu, additional, Mukasa, Koji, additional, Osonoi, Takeshi, additional, Hirano, Fuminori, additional, Nishimura, Motonobu, additional, Yambe, Yuko, additional, Tanaka, Yukio, additional, Ujihara, Makoto, additional, Sakai, Takashi, additional, Imura, Mitsuo, additional, Umayahara, Yutaka, additional, Makino, Shinya, additional, Nakazawa, Jun, additional, Yamaguchi, Yukinari, additional, Kashine, Susumu, additional, Miyaoka, Hiroaki, additional, Suzuki, Katsunori, additional, Inoue, Toshihiko, additional, Nagai, Sou, additional, Sato, Nobuyuki, additional, Yamamoto, Masahiro, additional, Taya, Noriyasu, additional, Fujita, Akira, additional, Matsutani, Akira, additional, Shibagaki, Yugo, additional, Sato, Yuichi, additional, Yamauchi, Akira, additional, Tsutsui, Masahiro, additional, Ishiko, Tamayo, additional, Kaneko, Shizuka, additional, Azuma, Nobuyuki, additional, Matsuda, Hirofumi, additional, Hashiguchi, Yasuhiro, additional, Onishi, Yukiko, additional, Tokui, Mikiya, additional, Matsuhisa, Munehide, additional, Kiyosue, Arihiro, additional, Shinoda, Junji, additional, Ishikawa, Kazuo, additional, Ahmad, Ghazali, additional, Vijayasingham, Shalini, additional, Aziz, Nor Azizah, additional, Hussein, Zanariah, additional, Fung, Yin Khet, additional, Hassan, Wan Hasnul Halimi Wan, additional, Wong, Hin Seng, additional, Goh, Bak Leong, additional, Ali, Norhaliza Mohd, additional, Merican, Nor Shaffinaz Yusuf Azmi, additional, Vaithilingam, Indralingam, additional, Nik Ahmad, Nik Nur Fatnoon, additional, Adam, Noor, additional, Sukor, Norlela, additional, Vengadasalam, V Paranthaman P, additional, Abdul Kadir, Khalid, additional, Mohamed, Mafauzy, additional, Renoirte Lopez, Karina, additional, Leguizamo-Dimas, Aniceto, additional, Chew Wong, Alfredo, additional, Chevaile-Ramos, Jose, additional, Gonzalez Gonzalez, Jose, additional, Rico Hernandez, Raul, additional, Nino-Cruz, Jose, additional, Sauque Reyna, Leobardo, additional, Gonzalez-Galvez, Guillermo, additional, Madero Rovalo, Magdalena, additional, Bochicchio-Ricardelli, Tomasso, additional, Aldrete, Jorge, additional, Carranza-Madrigal, Jaime, additional, Vogt, Liffert, additional, Smak Gregoor, Peter, additional, Barendregt, JNM, additional, Luik, Peter, additional, Gansevoort, Ronald, additional, Laverman, Gozewijn, additional, Pilmore, Helen, additional, Lunt, Helen, additional, Baker, John, additional, Miller, Steven, additional, Rabindranath, Kannaiyan, additional, Zapata-Rincon, Luis, additional, Vargas-Gonzales, Rolando, additional, Calderon Ticona, Jorge, additional, Dextre Espinoza, Augusto, additional, Burga Nunez, Jose, additional, Zea-Nunez, Carlos Antonio, additional, Herrada Orue, Benjamin, additional, Medina-Santander, Boris, additional, Delgado-Butron, Cesar, additional, Farfan-Aspilcueta, Julio, additional, Mazur, Stanislaw, additional, Necki, Miroslaw, additional, Wruk, Michal, additional, Klodawska, Katarzyna, additional, Popenda, Grazyna, additional, Skokowska, Ewa, additional, Arciszewska, Malgorzata, additional, Wiecek, Andrzej, additional, Ciechanowski, Kazimierz, additional, Nowicki, Michal, additional, Birne, Rita, additional, Cabrita, Antonio, additional, Ramos, Aura, additional, Antunes Ferreira, Manuel Anibal, additional, Matta Fontanet, Evelyn, additional, Alcantara-Gonzalez, Altagracia Aurora, additional, Comulada-Rivera, Angel, additional, Galindo Ramos, Eugenia, additional, Cangiano, Jose, additional, Quesada-Suarez, Luis, additional, Calderon Ortiz, Ricardo, additional, Vazquez-Tanus, Jose, additional, Burgos-Calderon, Rafael, additional, Rosado, Carlos, additional, Hancu, Nicolae, additional, Pintilei, Ella, additional, Mistodie, Cristina, additional, Bako, Gabriel, additional, Ionutiu, Lavinia, additional, Petrica, Ligia, additional, Timar, Romulus, additional, Tuta, Liliana, additional, Duma, Livia, additional, Tutescu, Adriana, additional, Ivanova, Svetlana, additional, Essaian, Ashot, additional, Zrazhevskiy, Konstantin, additional, Tomilina, Natalia, additional, Smolyarchuk, Elena, additional, Kuzin, Anatoly, additional, Lantseva, Olga, additional, Karpova, Irina, additional, Shamkhalova, Minara, additional, Liberanskaya, Natalia, additional, Yavdosyuk, Andrey, additional, Shvarts, Yuri, additional, Bardymova, Tatiana, additional, Blagoveshchenskaya, Olga, additional, Solovev, Oleg, additional, Rechkova, Elena, additional, Pikalova, Natalia, additional, Pavlova, Maria, additional, Kolmakova, Elena, additional, Sayfutdinov, Rustam, additional, Villevalde, Svetlana, additional, Koziolova, Natalya, additional, Martynenko, Vladimir, additional, Marasaev, Vyacheslav, additional, Maksudova, Adelya, additional, Sigitova, Olga, additional, Mordovin, Viktor, additional, Klimontov, Vadim, additional, Samoylova, Yulia, additional, Karonova, Tatiana, additional, Yeoh, Lee Ying, additional, Teo, Boon Wee, additional, Foo, Marjorie Wai Yin, additional, Liew, Adrian, additional, Tkac, Ivan, additional, Oroszova, Aniko, additional, Fekete, Jozef, additional, Rosenberger, Jaroslav, additional, Obetkova, Ida, additional, Fulopova, Alla, additional, Kolesarova, Eva, additional, Raslova, Katarina, additional, Smolko, Peter, additional, Oksa, Adrian, additional, Distiller, Larry, additional, Trokis, Julien, additional, Adams, Luthando, additional, Makan, Hemant, additional, Ramlachan, Padaruth, additional, Mitha, Essack, additional, Coetzee, Kathleen, additional, Punt, Zelda, additional, Bhorat, Qasim, additional, Naiker, Puvenesvari, additional, Ellis, Graham, additional, Van Zyl, Louis, additional, Lee, Kwan Woo, additional, Kim, Min Seon, additional, Yoo, Soon-Jib, additional, Yoon, Kun Ho, additional, Cho, Yong-Wook, additional, Park, Tae-Sun, additional, Kim, Sang Yong, additional, Choi, Moon-Gi, additional, Oh, Tae Keun, additional, Lee, Kang-Wook, additional, Shon, Ho Sang, additional, Suh, Sung Hwan, additional, Kim, Byung-Joon, additional, Doo-Man, Kim, additional, Yi, Joo Hark, additional, Lee, Sang Ah, additional, Cho, Ho Chan, additional, Kim, Sin-Gon, additional, Cha, Dae-Ryong, additional, Seo, Ji A, additional, Choi, Kyung Mook, additional, Woo, Jeong-Taek, additional, Ahn, Kyu Jeung, additional, Lee, Jae Hyuk, additional, Kim, In-Joo, additional, Lee, Moon-Kyu, additional, Jang, Hak Chul, additional, Park, Kyong-Soo, additional, Kim, Beom Seok, additional, Mok, Ji Oh, additional, Shin, Mijung, additional, Yoon, Sun Ae, additional, Nam-Goong, Il-Seong, additional, Chung, Choon Hee, additional, Yu, Tae Yang, additional, Lee, Hyoung Woo, additional, Soto Gonzalez, Alfonso, additional, Almirall, Jaume, additional, Egido, Jesus, additional, Calero Gonzalez, Francesca, additional, Fernandez Fresnedo, Gema, additional, Valera Cortes, Ildefonso, additional, Praga Terente, Manuel, additional, Garcia Mendez, Isabel, additional, Navarro Gonzalez, Juan, additional, Herrero Calvo, Jose, additional, Cigarran Guldris, Secundino, additional, Prieto Velasco, Mario, additional, Minguela Pesquera, Jose Ignacio, additional, Galan, Antonio, additional, Pascual, Julio, additional, Marques Vidas, Maria, additional, Martins Munoz, Judith, additional, Rodriguez-Perez, Jose, additional, Castro-Alonso, Cristina, additional, Bonet Sol, Josep, additional, Seron, Daniel, additional, Fernandez Giraldez, Elvira, additional, Arrieta Lezama, Javier, additional, Montero, Nuria, additional, Hernandez-Jaras, Julio, additional, Santamaria Olmo, Rafael, additional, Molas Coten, Jose Ramon, additional, Hellberg, Olof, additional, Fellstrom, Bengt, additional, Bock, Andreas, additional, Pei, Dee, additional, Lin, Ching-Ling, additional, Tien, Kai-Jen, additional, Chen, Ching-Chu, additional, Huang, Chien-Ning, additional, Jiang, Ju-Ying, additional, Wu, Du-An, additional, Chu, Chih-Hsun, additional, Tseng, Shih-Ting, additional, Chen, Jung-Fu, additional, Bau, Cho-Tsan, additional, Sheu, Wayne, additional, Wu, Mai-Szu, additional, Sari, Ramazan, additional, Sezer, Siren, additional, Yildiz, Alaattin, additional, Satman, Ilhan, additional, Kalender, Betul, additional, Mankovskyy, Borys, additional, Fushtey, Ivan, additional, Stanislavchuk, Mykola, additional, Kolenyk, Mykola, additional, Dudar, Iryna, additional, Zolotaikina, Viktoriia, additional, Abrahamovych, Orest, additional, Kostynenko, Tetyana, additional, Petrosyan, Olena, additional, Kuskalo, Petro, additional, Galushchak, Olga, additional, Legun, Oleg, additional, Topchii, Ivan, additional, Martynyuk, Liliya, additional, Stryzhak, Vasyl, additional, Panina, Svitlana, additional, Tkach, Sergii, additional, Korpachev, Vadym, additional, Maxwell, Peter, additional, Gnudi, Luigi, additional, Kon, Sui Phin, additional, Tindall, Hilary, additional, Kalra, Phillip, additional, Mark, Patrick, additional, Patel, Dipesh, additional, El-Shahawy, Mohamed, additional, Bai, Liqun, additional, Nica, Romanita, additional, Lien, Yeong-Hau, additional, Menefee, Judson, additional, Busch, Robert, additional, Miller, Alan, additional, Ahmed, Azazuddin, additional, Arif, Ahmed, additional, Lee, Joseph, additional, Desai, Sachin, additional, Bansal, Shweta, additional, Bentsianov, Marie, additional, Belledonne, Mario, additional, Jere, Charles, additional, Gaona, Raul, additional, Greenwood, Gregory, additional, Brusco, Osvaldo, additional, Boiskin, Mark, additional, Belo, Diogo, additional, Minasian, Raffi, additional, Atray, Naveen, additional, Lawrence, Mary, additional, Taliercio, John, additional, Pergola, Pablo, additional, Scott, David, additional, Alvarez, German, additional, Marder, Bradley, additional, Powell, Thomas, additional, Bakdash, Wa'el, additional, Stoica, George, additional, McFadden, Christopher, additional, Rendell, Marc, additional, Wise, Jonathan, additional, Jones, Audrey, additional, Jardula, Michael, additional, Madu, Ivy-Joan, additional, Varghese, Freemu, additional, Tulloch, Brian, additional, Ahmed, Ziauddin, additional, Hames, Melanie, additional, Nazeer, Imran, additional, Shahid, Newman, additional, John, Rekha, additional, Montero, Manuel, additional, Fitz-Patrick, David, additional, Phillips, Lawrence, additional, Guasch, Antonio, additional, Christofides, Elena, additional, Gundroo, Aijaz, additional, Amin, Mohammad, additional, Bowman-Stroud, Cynthia, additional, Link, Michael, additional, Mulloy, Laura, additional, Nammour, Michael, additional, Lalwani, Tarik, additional, Hanson, Lenita, additional, Whaley-Connell, Adam, additional, Herman, Lee, additional, Chatha, Rupi, additional, Osama, Sayed, additional, Liss, Kenneth, additional, Kayali, Zeid, additional, Bhargava, Anuj, additional, Israel, Ezra, additional, Peguero-Rivera, Alfredo, additional, Fang, Michael, additional, Slover, Judith, additional, Barengolts, Elena, additional, Flores, Jose, additional, Muoneke, Rosemary, additional, Savin, Virginia, additional, Awua-Larbi, Stella, additional, Levine, Andrew, additional, Newman, George, additional, Golestaneh, Laden, additional, Bohm, Guillermo, additional, Reisin, Efrain, additional, Cruz, Lucita, additional, Weiss, Robert, additional, Zieve, Franklin, additional, Horwitz, Edward, additional, Chuang, Peale, additional, Mersey, James, additional, Manley, John, additional, Graf, Ronald, additional, Bedros, Fadi, additional, Joshi, Sudhir, additional, Frias, Juan, additional, Assefi, Ali, additional, O'Shaughnessy, Andrew, additional, Brantley, Roman, additional, Minga, Todd, additional, Tietjen, David, additional, Kantor, Samuel, additional, Jamal, Aamir, additional, Guadiz, Ramon, additional, Hershon, Kenneth, additional, Bressler, Peter, additional, Kopyt, Nelson, additional, Cathcart, Harold, additional, Bloom, Scott, additional, Reichel, Ronald, additional, Nakhle, Samer, additional, Dulude, Emily, additional, Tarkan, Joshua, additional, Baker, Penelope, additional, Zeig, Steven, additional, Moya Hechevarria, Jaynier, additional, Ropero-Cartier, Armando, additional, De la Calle, Gilda, additional, Doshi, Ankur, additional, Saba, Fadi, additional, Sligh, Teresa, additional, Shaw, Sylvia, additional, Kumar, Jayant, additional, Szerlip, Harold, additional, Bayliss, George, additional, Perlman, Alan, additional, Sakhrani, Lakhi, additional, Gouge, Steven, additional, Argoud, Georges, additional, Acosta, Idalia, additional, Elder, John, additional, Joshi, Sucharit, additional, Sensenbrenner, John, additional, Vicks, Steven, additional, Mangoo-Karim, Roberto, additional, Galphin, Claude, additional, Leon-Forero, Carlos, additional, Gilbert, John, additional, Brown, Eric, additional, Ijaz, Adeel, additional, Butt, Salman, additional, Markell, Mariana, additional, Arauz-Pacheco, Carlos, additional, Sloan, Lance, additional, Alvarado, Odilon, additional, Jabbour, Serge, additional, Simon, Eric, additional, Rastogi, Anjay, additional, James, Sam, additional, Hall, Karen, additional, Melish, John, additional, Dixon, Brad, additional, Adolphe, Allen, additional, Kovesdy, Csaba, additional, Beddhu, Srinivasan, additional, Solomon, Richard, additional, Fernando, Ronald, additional, Levin, Ellis, additional, Thakar, Charuhas, additional, Robey, Brooks, additional, Goldfarb, David, additional, Fried, Linda, additional, Maddukuri, Geetha, additional, Thomson, Stephen, additional, Annand, Andrew, additional, Kronfli, Saeed, additional, Kalirao, Paramjit, additional, Schmidt, Rebecca, additional, Dahl, Neera, additional, Blumenthal, Samuel, additional, Weinstein, Debra, additional, Ostergaard, Ove, additional, Weinstein, Talia, additional, Ono, Yasuhiro, additional, Yalcin, Murat, additional, and Karim, Shahana, additional

Published
2019
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26. Monogenic causes of chronic kidney disease in adults

Author

Connaughton, Dervla M., primary, Kennedy, Claire, additional, Shril, Shirlee, additional, Mann, Nina, additional, Murray, Susan L., additional, Williams, Patrick A., additional, Conlon, Eoin, additional, Nakayama, Makiko, additional, van der Ven, Amelie T., additional, Ityel, Hadas, additional, Kause, Franziska, additional, Kolvenbach, Caroline M., additional, Dai, Rufeng, additional, Vivante, Asaf, additional, Braun, Daniela A., additional, Schneider, Ronen, additional, Kitzler, Thomas M., additional, Moloney, Brona, additional, Moran, Conor P., additional, Smyth, John S., additional, Kennedy, Alan, additional, Benson, Katherine, additional, Stapleton, Caragh, additional, Denton, Mark, additional, Magee, Colm, additional, O’Seaghdha, Conall M., additional, Plant, William D., additional, Griffin, Matthew D., additional, Awan, Atif, additional, Sweeney, Clodagh, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Griffin, Brenda, additional, Leavey, Sean, additional, Casserly, Liam, additional, de Freitas, Declan G., additional, Holian, John, additional, Dorman, Anthony, additional, Doyle, Brendan, additional, Lavin, Peter J., additional, Little, Mark A., additional, Conlon, Peter J., additional, and Hildebrandt, Friedhelm, additional

Published
2019
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27. Utility of Genomic Testing after Renal Biopsy.

Author

Murray, Susan L., Dorman, Anthony, Benson, Katherine A., Connaughton, Dervla M., Stapleton, Caragh P., Fennelly, Neil K., Kennedy, Claire, McDonnell, Ciara A., Kidd, Kendrah, Cormican, Sarah M., Ryan, Louise A., Lavin, Peter, Little, Mark A., Bleyer, Anthony J., Doyle, Brendan, Cavalleri, Gianpiero L., Hildebrandt, Friedhelm, Conlon, Peter J., Murray, Susan L, and Benson, Katherine A

Subjects
RENAL biopsy, FOCAL segmental glomerulosclerosis, KIDNEY disease diagnosis, GENETIC disorders, GENETIC disorder diagnosis, GENETIC testing, NEPHRITIS
Abstract

Background: Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise pathological diagnosis. Our aim was to identify a genetic cause of disease in patients who had undergone renal biopsy and determine if genetic testing altered diagnosis or treatment.Methods: Patients with suspected familial kidney disease underwent a variety of next-generation sequencing (NGS) strategies. The subset of these patients who had also undergone native kidney biopsy was identified. Histological specimens were reviewed by a consultant pathologist, and genetic and pathological diagnoses were compared.Results: Seventy-five patients in 47 families underwent genetic sequencing and renal biopsy. Patients were grouped into 5 diagnostic categories based on pathological diagnosis: tubulointerstitial kidney disease (TIKD; n = 18); glomerulonephritis (GN; n = 15); focal segmental glomerulosclerosis and Alport Syndrome (n = 11); thrombotic microangiopathy (TMA; n = 17); and nonspecific pathological changes (n = 14). Thirty-nine patients (52%) in 21 families (45%) received a genetic diagnosis; 13 cases (72%) with TIKD, 4 (27%) with GN, 6 (55%) with focal segmental glomerulosclerosis/Alport syndrome, and 10 (59%) with TMA and 6 cases (43%) with nonspecific features. Genetic testing resulted in changes in understanding of disease mechanism in 21 individuals (54%) in 12 families (57%). Treatment would have been altered in at least 26% of cases (10/39).Conclusions: An accurate genetic diagnosis can result in changes in clinical diagnosis, understanding of pathological mechanism, and treatment. NGS should be considered as a complementary diagnostic technique to kidney biopsy in the evaluation of patients with kidney disease. [ABSTRACT FROM AUTHOR]

Published
2020
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28. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Author

Živná, Martina, primary, Kidd, Kendrah, additional, Přistoupilová, Anna, additional, Barešová, Veronika, additional, DeFelice, Mathew, additional, Blumenstiel, Brendan, additional, Harden, Maegan, additional, Conlon, Peter, additional, Lavin, Peter, additional, Connaughton, Dervla M., additional, Hartmannová, Hana, additional, Hodaňová, Kateřina, additional, Stránecký, Viktor, additional, Vrbacká, Alena, additional, Vyleťal, Petr, additional, Živný, Jan, additional, Votruba, Miroslav, additional, Sovová, Jana, additional, Hůlková, Helena, additional, Robins, Victoria, additional, Perry, Rebecca, additional, Wenzel, Andrea, additional, Beck, Bodo B., additional, Seeman, Tomáš, additional, Viklický, Ondřej, additional, Rajnochová-Bloudíčková, Sylvie, additional, Papagregoriou, Gregory, additional, Deltas, Constantinos C., additional, Alper, Seth L., additional, Greka, Anna, additional, Bleyer, Anthony J., additional, and Kmoch, Stanislav, additional

Published
2018
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30. An Investigation into the Genetic Basis of Familial Interstitial Nephritis

Author

Lavin, Peter

Subjects
Nephritis, Genetics, Interstitial, Uncategorized
Abstract

Chronic tubulo-interstitial nephritis (TIN) leads to progressive decline in renal function, involving patho-physiological processes which are poorly understood. Here, six Irish kindreds with familial interstitial nephritis (FIN) are presented. The largest kindred have FIN which is inherited in a dominant fashion and does not associate with the UMOD locus. Genome-wide linkage analysis was performed, and the linkage area was refined with microsatellite markers and haplotype analysis to define the minimal candidate region. Genome-wide linkage analysis yielded a maximum two-point logarithm of odds(LOD) score of 2.62 at marker D1S394 on chromosome 1q. Multipoint parametric LOD score calculation in this family yielded a significant LOD score of 3.598 over a 5 centi-Morgan (cM) span at markers D1S2721, D1S394, RS2317232, RS857819, D1S2635 and RS876537. Fine mapping of this region defined a minimal candidate region of 14.2 Mb with recombination observed at markers D1S25PJL and D1S2844. These data support a locus for FIN at chromosome 1q21-23. The known coding areas within this locus were exhaustively interrogated with standard Sanger sequencing and Whole Exome Capture. No causative mutation was identified in this fashion. It is likely that the responsible variation is due to a “complex rearrangement” or an intronic variation impacting a transcription factor binding site or having an epigenetic effect. Identification of the mutated gene at this locus may illuminate disease mechanisms of interstitial nephritis.

Published
2012

31. Unusual cause of loin pain

Author

Wong, Limy, primary, Kok, Hong Kuan, additional, Akib, Radzi Rodzlan, additional, Joseph Lavin, Peter, additional, and Torreggiani, William C., additional

Published
2015
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32. A Novel Missense Mutation of Wilms’ Tumor 1 Causes Autosomal Dominant FSGS

Author

Hall, Gentzon, primary, Gbadegesin, Rasheed A., additional, Lavin, Peter, additional, Wu, Guanghong, additional, Liu, Yangfan, additional, Oh, Edwin C., additional, Wang, Liming, additional, Spurney, Robert F., additional, Eckel, Jason, additional, Lindsey, Thomas, additional, Homstad, Alison, additional, Malone, Andrew F., additional, Phelan, Paul J., additional, Shaw, Andrey, additional, Howell, David N., additional, Conlon, Peter J., additional, Katsanis, Nicholas, additional, and Winn, Michelle P., additional

Published
2015
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33. The Irish Kidney Gene Project - Prevalence of Family History in Patients with Kidney Disease in Ireland

Author

Connaughton, Dervla M., primary, Bukhari, Sarah, additional, Conlon, Peter, additional, Cassidy, Eoin, additional, O'Toole, Michael, additional, Mohamad, Mardina, additional, Flanagan, John, additional, Butler, Triona, additional, O'Leary, Anne, additional, Wong, Limy, additional, O'Regan, John, additional, Moran, Sarah, additional, O'Kelly, Patrick, additional, Logan, Valerie, additional, Griffin, Brenda, additional, Griffin, Matthew, additional, Lavin, Peter, additional, and Little, Mark A., additional

Published
2015
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34. Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS

Author

Gbadegesin, Rasheed A., primary, Hall, Gentzon, additional, Adeyemo, Adebowale, additional, Hanke, Nils, additional, Tossidou, Irini, additional, Burchette, James, additional, Wu, Guanghong, additional, Homstad, Alison, additional, Sparks, Matthew A., additional, Gomez, Jose, additional, Jiang, Ruiji, additional, Alonso, Andrea, additional, Lavin, Peter, additional, Conlon, Peter, additional, Korstanje, Ron, additional, Stander, M. Christine, additional, Shamsan, Ghaidan, additional, Barua, Moumita, additional, Spurney, Robert, additional, Singhal, Pravin C., additional, Kopp, Jeffrey B., additional, Haller, Hermann, additional, Howell, David, additional, Pollak, Martin R., additional, Shaw, Andrey S., additional, Schiffer, Mario, additional, and Winn, Michelle P., additional

Published
2014
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35. Phosphodiesterase 5 inhibition ameliorates angiontensin II-induced podocyte dysmotility via the protein kinase G-mediated downregulation of TRPC6 activity

Author

Hall, Gentzon, primary, Rowell, Janelle, additional, Farinelli, Federica, additional, Gbadegesin, Rasheed A., additional, Lavin, Peter, additional, Wu, Guanghong, additional, Homstad, Alison, additional, Malone, Andrew, additional, Lindsey, Thomas, additional, Jiang, Ruiji, additional, Spurney, Robert, additional, Tomaselli, Gordon F., additional, Kass, David A., additional, and Winn, Michelle P., additional

Published
2014
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37. C3 glomerulopathy: consensus report

Author

Pickering, Matthew C., primary, D'Agati, Vivette D., additional, Nester, Carla M., additional, Smith, Richard J., additional, Haas, Mark, additional, Appel, Gerald B., additional, Alpers, Charles E., additional, Bajema, Ingeborg M., additional, Bedrosian, Camille, additional, Braun, Michael, additional, Doyle, Mittie, additional, Fakhouri, Fadi, additional, Fervenza, Fernando C., additional, Fogo, Agnes B., additional, Frémeaux-Bacchi, Véronique, additional, Gale, Daniel P., additional, Goicoechea de Jorge, Elena, additional, Griffin, Gene, additional, Harris, Claire L., additional, Michael Holers, V., additional, Johnson, Sally, additional, Lavin, Peter J., additional, Medjeral-Thomas, Nicholas, additional, Paul Morgan, B., additional, Nast, Cynthia C., additional, Noel, Laure-Hélène, additional, Keith Peters, D., additional, Rodríguez de Córdoba, Santiago, additional, Servais, Aude, additional, Sethi, Sanjeev, additional, Song, Wen-Chao, additional, Tamburini, Paul, additional, Thurman, Joshua M., additional, Zavros, Michael, additional, and Terence Cook, H., additional

Published
2013
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38. TNXB Mutations Can Cause Vesicoureteral Reflux

Author

Gbadegesin, Rasheed A., primary, Brophy, Patrick D., additional, Adeyemo, Adebowale, additional, Hall, Gentzon, additional, Gupta, Indra R., additional, Hains, David, additional, Bartkowiak, Bartlomeij, additional, Rabinovich, C. Egla, additional, Chandrasekharappa, Settara, additional, Homstad, Alison, additional, Westreich, Katherine, additional, Wu, Guanghong, additional, Liu, Yutao, additional, Holanda, Danniele, additional, Clarke, Jason, additional, Lavin, Peter, additional, Selim, Angelica, additional, Miller, Sara, additional, Wiener, John S., additional, Ross, Sherry S., additional, Foreman, John, additional, Rotimi, Charles, additional, and Winn, Michelle P., additional

Published
2013
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40. COMPUTING RESOURCE AND WORK ALLOCATIONS USING SOCIAL PROFILES

Author

Lavin Peter, Kenny Eamonn, and Coghlan Brian

Subjects
Computational Theory and Mathematics, Artificial Intelligence, Computer Networks and Communications, Modeling and Simulation, Computer Science (miscellaneous), Computer Vision and Pattern Recognition, Computer Graphics and Computer-Aided Design
Published
2013

41. A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy

Author

Malik, Talat H., primary, Lavin, Peter J., additional, Goicoechea de Jorge, Elena, additional, Vernon, Katherine A., additional, Rose, Kirsten L., additional, Patel, Mitali P., additional, de Leeuw, Marcel, additional, Neary, John J., additional, Conlon, Peter J., additional, Winn, Michelle P., additional, and Pickering, Matthew C., additional

Published
2012
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42. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

Author

Gbadegesin, Rasheed A., primary, Lavin, Peter J., additional, Hall, Gentzon, additional, Bartkowiak, Bartlomiej, additional, Homstad, Alison, additional, Jiang, Ruiji, additional, Wu, Guanghong, additional, Byrd, Alison, additional, Lynn, Kelvin, additional, Wolfish, Norman, additional, Ottati, Carolina, additional, Stevens, Paul, additional, Howell, David, additional, Conlon, Peter, additional, and Winn, Michelle P., additional

Published
2012
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45. A New Locus for Familial FSGS on Chromosome 2P

Author

Gbadegesin, Rasheed, primary, Lavin, Peter, additional, Janssens, Louis, additional, Bartkowiak, Bartlomiej, additional, Homstad, Alison, additional, Wu, Guanghong, additional, Bowling, Brandy, additional, Eckel, Jason, additional, Potocky, Chris, additional, Abbott, Diana, additional, Conlon, Peter, additional, Scott, William K., additional, Howell, David, additional, Hauser, Elizabeth, additional, and Winn, Michelle P., additional

Published
2010
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47. Object-oriented PHP : Concepts, Techniques, and Code

Author

Lavin, Peter and Lavin, Peter

Subjects
Object-oriented programming (Computer science), PHP (Computer program language)
Abstract

Object-Oriented PHP shows developers how to take advantage of the new object-oriented features of PHP. Working from concrete examples, the book begins with code compatible with PHP 4 and 5, and then focuses on object orientation in PHP 5. The author's practical approach uses numerous code examples, which will help developers get up to speed quickly and show them how to apply what they've learned to everyday situations. All code samples are available for download on the book's companion website.

Published
2006

48. Phosphodiesterase 5 inhibition ameliorates angiontensin II-induced podocyte dysmotility via the protein kinase G-mediated downregulation of TRPC6 activity.

Author

Hall, Gentzon, Rowell, Janelle, Farinelli, Federica, Gbadegesin, Rasheed A., Lavin, Peter, Guanghong Wu, Homstad, Alison, Malone, Andrew, Lindsey, Thomas, Jiang, Ruiji, Spurney, Robert, Tomaselli, Gordon F., Kass, David A., and Winn, Michelle P.

Subjects
PHOSPHODIESTERASE-5 inhibitors, KIDNEY disease treatments, CGMP-dependent protein kinase, TRP channels, CALCINEURIN
Abstract

The emerging role of the transient receptor potential cation channel isotype 6 (TRPC6) as a central contributor to various pathological processes affecting podocytes has generated interest in the development of therapeutics to modulate its function. Recent insights into the regulation of TRPC6 have revealed PKG as a potent negative modulator of TRPC6 conductance and associated signaling via its phosphorylation at two highly conserved amino acid residues: Thr69/Thr70 (Thr69 in mice and Thr70 in humans) and Ser321/Ser322 (Ser321 in mice and Ser322 in humans). Here, we tested the role of PKG in modulating TRPC6-dependent responses in primary and conditionally immortalized mouse podocytes. TRPC6 was phosphorylated at Thr69 in nonstimulated podocytes, but this declined upon ANG II stimulation or overexpression of constitutively active calcineurin phosphatase. ANG II induced podocyte motility in an in vitro wound assay, and this was reduced 30-60% in cells overexpressing a phosphomimetic mutant TRPC6 (TRPC6T70E/S322E) or activated PKG (P < 0.05). Pretreatment of podocytes with the PKG agonists S-nitroso-N-acetyl-DL-penicillamine (nitric oxide donor), 8-bromo-cGMP, Bay 41-2772 (soluble guanylate cyclase activator), or phosphodiesterase 5 (PDE5) inhibitor 4-{[3=,4=-(methylenedioxy) benzyl]amino}[7]-6-methoxyquinazoline attenuated ANG II-induced Thr69 dephosphorylation and also inhibited TRPC6-dependent podocyte motility by 30-60%. These data reveal that PKG activation strategies, including PDE5 inhibition, ameliorate ANG II-induced podocyte dysmotility by targeting TRPC6 in podocytes, highlighting the potential therapeutic utility of these approaches to treat hyperactive TRPC6-dependent glomerular disease. [ABSTRACT FROM AUTHOR]

Published
2014
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49. Major lineaments and the Lake Erie-Maryland crustal block.

Author

Lavin, Peter M., Chaffin, David L., and Davis, Willard F.

Abstract

Analyses of regional gravity and magnetic patterns, LANDSAT images and geological information have revealed two major lineaments crossing western Pennsylvania and parts of surrounding states. These lineaments are inferred to be expressions of fracture zones which penetrate deeply into the crust and possibly the upper mantle. The extensions of the Tyrone-Mt. Union and the Pittsburgh-Washington lineaments bound a distinct crustal block (Lake Erie-Maryland block) over 100 km wide and probably more than 600 km in length. Evidence exists for the lateral displacement of this block at least 60 km northwestward during late Precambrian to Lower Ordovician time. Subsequent movements have been mainly vertical with respect to neighboring blocks. [ABSTRACT FROM AUTHOR]

Published
1982
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50. Cover story

Author

Lavin, Peter

Subjects
Company acquisition/merger, Mitsubishi Electric Corp. -- Mergers, acquisitions and divestments, Apricot Computers Ltd. -- Mergers, acquisitions and divestments
Abstract

COVER STORY Q Will there still be Apricots in the UK? In other markets will they be Mitsubishi's? A We're looking at it market by market but in general the […]

Published
1990

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