Search Results - "Vivien, R."

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension by Beuschlein, Felix, Boulkroun, Sheerazed, Osswald, Andrea, Wieland, Thomas, Nielsen, Hang N, Lichtenauer, Urs D, Penton, David, Schack, Vivien R, Amar, Laurence, Fischer, Evelyn, Walther, Anett, Tauber, Philipp, Schwarzmayr, Thomas, Diener, Susanne, Graf, Elisabeth, Allolio, Bruno, Samson-Couterie, Benoit, Benecke, Arndt, Quinkler, Marcus, Fallo, Francesco, Plouin, Pierre-Francois, Mantero, Franco, Meitinger, Thomas, Mulatero, Paolo, Jeunemaitre, Xavier, Warth, Richard, Vilsen, Bente, Zennaro, Maria-Christina, Strom, Tim M, Reincke, Martin

“…Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type…”
Get full text

Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack by Lopez, Jamie A., Susanto, Olivia, Jenkins, Misty R., Lukoyanova, Natalya, Sutton, Vivien R., Law, Ruby H.P., Johnston, Angus, Bird, Catherina H., Bird, Phillip I., Whisstock, James C., Trapani, Joseph A., Saibil, Helen R., Voskoboinik, Ilia

“…Cytotoxic lymphocytes serve a key role in immune homeostasis by eliminating virus-infected and transformed target cells through the perforin-dependent delivery…”
Get full text

Beyond target cell death – Granzyme serine proteases in health and disease by Nüssing, Simone, Sutton, Vivien R., Trapani, Joseph A., Parish, Ian A.

“…Granzymes are a family of small (∼32 kDa) serine proteases with a range of substrate specificities that are stored in, and released from, the cytoplasmic…”
Get full text

Small Molecule Inhibitors of Lymphocyte Perforin as Focused Immunosuppressants for Infection and Autoimmunity by Spicer, Julie A., Huttunen, Kristiina M., Jose, Jiney, Dimitrov, Ivo, Akhlaghi, Hedieh, Sutton, Vivien R., Voskoboinik, Ilia, Trapani, Joseph

“…New drugs that precisely target the immune mechanisms critical for cytotoxic T lymphocyte (CTL) and natural killer (NK) cell driven pathologies are desperately…”
Get full text

Accelerating genomic workflows using NVIDIA Parabricks by O'Connell, Kyle A, Yosufzai, Zelaikha B, Campbell, Ross A, Lobb, Collin J, Engelken, Haley T, Gorrell, Laura M, Carlson, Thad B, Catana, Josh J, Mikdadi, Dina, Bonazzi, Vivien R, Klenk, Juergen A

“…As genome sequencing becomes better integrated into scientific research, government policy, and personalized medicine, the primary challenge for researchers is…”
Get full text

Environmental DNA metabarcoding for benthic monitoring: A review of sediment sampling and DNA extraction methods by Pawlowski, J., Bruce, K., Panksep, K., Aguirre, F.I., Amalfitano, S., Apothéloz-Perret-Gentil, L., Baussant, T., Bouchez, A., Carugati, L., Cermakova, K., Cordier, T., Corinaldesi, C., Costa, F.O., Danovaro, R., Dell'Anno, A., Duarte, S., Eisendle, U., Ferrari, B.J.D., Frontalini, F., Frühe, L., Haegerbaeumer, A., Kisand, V., Krolicka, A., Lanzén, A., Leese, F., Lejzerowicz, F., Lyautey, E., Maček, I., Sagova-Marečková, M., Pearman, J.K., Pochon, X., Stoeck, T., Vivien, R., Weigand, A., Fazi, S.

“…Environmental DNA (eDNA) metabarcoding (parallel sequencing of DNA/RNA for identification of whole communities within a targeted group) is revolutionizing the…”
Get full text

CD46 Isoforms Influence the Mode of Entry by Human Herpesvirus 6A/B in T Cells by Rossen, Litten Sørensen, Schack, Vivien R, Thuesen, Katrine Kyd Holstein, Bundgaard, Bettina, Höllsberg, Per

“…CD46 is a receptor for human herpesvirus 6A (HHV-6A) and is in some cells also important for infection with HHV-6B. CD46 has several isoforms of which the most…”
Get full text

Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function by Holm, Rikke, Toustrup-Jensen, Mads S., Einholm, Anja P., Schack, Vivien R., Andersen, Jens P., Vilsen, Bente

“…Na+,K+-ATPase creates transmembrane ion gradients crucial to the function of the central nervous system. The α-subunit of Na+,K+-ATPase exists as four isoforms…”
Get full text

Somatic ATP1A1, ATP2B3, and KCNJ5 Mutations in Aldosterone-Producing Adenomas by Williams, Tracy Ann, Monticone, Silvia, Schack, Vivien R, Stindl, Julia, Burrello, Jacopo, Buffolo, Fabrizio, Annaratone, Laura, Castellano, Isabella, Beuschlein, Felix, Reincke, Martin, Lucatello, Barbara, Ronconi, Vanessa, Fallo, Francesco, Bernini, Giampaolo, Maccario, Mauro, Giacchetti, Gilberta, Veglio, Franco, Warth, Richard, Vilsen, Bente, Mulatero, Paolo

“…Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the…”
Get full text

The tetraspanin protein CD9 modulates infection with human herpesvirus 6A and 6B in a CD46-dependent manner by Schack, Vivien R, Rossen, Litten Sørensen, Ekebjærg, Clara Christina, Thuesen, Katrine Kyd Holstein, Bundgaard, Bettina, Höllsberg, Per

“…Tetraspanins are four-span transmembrane proteins that organize the membrane by forming tetraspanin-enriched microdomains. These have been shown to be…”
Get full text

Should biomedical research be like Airbnb? by Bonazzi, Vivien R, Bourne, Philip E

“…The thesis presented here is that biomedical research is based on the trusted exchange of services. That exchange would be conducted more efficiently if the…”
Get full text

Comparison of electrostatic and mechanical cell sorting with limited starting material by Staunstrup, Nicklas H., Petersen, Charlotte C., Fuglsang, Tina, Starnawska, Anna, Chernomorchenko, Ana, Qvist, Per, Schack, Vivien R.

“…Isolation of multiple cell populations from limited starting material and with minimal influence on cell homeostasis and viability are common requirements in…”
Get full text

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1 by Castiblanco, Daniela, Rudd-Schmidt, Jesse A., Noori, Tahereh, Sutton, Vivien R., Hung, Ya Hui, Flinsenberg, Thijs W.H., Hodel, Adrian W., Young, Neil D., Smith, Nicholas, Bratkovic, Drago, Peters, Heidi, Walterfang, Mark, Trapani, Joseph A., Brennan, Amelia J., Voskoboinik, Ilia

“…Niemann-Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder resulting from mutations in an endolysosomal cholesterol transporter, NPC1. Despite…”
Get full text

From biomedical cloud platforms to microservices: next steps in FAIR data and analysis by Sheffield, Nathan C., Bonazzi, Vivien R., Bourne, Philip E., Burdett, Tony, Clark, Timothy, Grossman, Robert L., Spjuth, Ola, Yates, Andrew D.

“…The biomedical research community is investing heavily in biomedical cloud platforms. Cloud computing holds great promise for addressing challenges with big…”
Get full text

Pharmacologic inhibition of dipeptidyl peptidase 1 (cathepsin C) does not block in vitro granzyme-mediated target cell killing by CD8 T or NK cells by Sutton, Vivien R, Watt, Sally V, Akhlaghi, Hedieh, Cipolla, David C, Chen, Kuan-Ju, LaSala, Daniel, McDonald, Patrick P, Beavis, Paul A, Munoz, Isabelle, Hodel, Adrian W, Noori, Tahereh, Voskoboinik, Ilia, Trapani, Joseph A

“…Recently developed small-molecule inhibitors of the lysosomal protease dipeptidyl peptidase 1 (DPP1), also known as cathepsin C (CatC), can suppress…”
Get full text

Antigen-specific CD4 + CD25 + T cells induced by locally expressed ICOS-Ig: the role of Foxp3, Perforin, Granzyme B and IL-10 - an experimental study by Christiansen, Dale, Mouhtouris, Effie, Hodgson, Russell, Sutton, Vivien R, Trapani, Joseph A, Ierino, Francesco L, Sandrin, Mauro S

“…We have previously reported that ICOS-Ig expressed locally by a PIEC xenograft induces a perigraft cellular accumulation of CD4 CD25 Foxp3 T cells and specific…”
Get more information

Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome by Schack, Vivien R., Herlin, Morten K., Pedersen, Henrik, Jensen, J. Magnus Bernth, Færch, Mia, Bundgaard, Bettina, Jensen, Rasmus K., Jensen, Uffe B., Christensen, Rikke, Andersen, Gregers R., Thiel, Steffen, Höllsberg, Per

“…Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that may lead to organ failure. Dysregulation of the complement system can cause…”
Get full text

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease by Toustrup-Jensen, Mads S., Einholm, Anja P., Schack, Vivien R., Nielsen, Hang N., Holm, Rikke, Sobrido, María-Jesús, Andersen, Jens P., Clausen, Torben, Vilsen, Bente

“…The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP)…”
Get full text

Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase by Roenn, Christian P., Li, Melody, Schack, Vivien R., Forster, Ian C., Holm, Rikke, Toustrup-Jensen, Mads S., Andersen, Jens P., Petrou, Steven, Vilsen, Bente

“…The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is caused by the single mutation E818K of the…”
Get full text

Serglycin determines secretory granule repertoire and regulates natural killer cell and cytotoxic T lymphocyte cytotoxicity by Sutton, Vivien R., Brennan, Amelia J., Ellis, Sarah, Danne, Jill, Thia, Kevin, Jenkins, Misty R., Voskoboinik, Ilia, Pejler, Gunnar, Johnstone, Ricky W., Andrews, Daniel M., Trapani, Joseph A.

“…The anionic proteoglycan serglycin is a major constituent of secretory granules in cytotoxic T lymphocyte (CTL)/natural killer (NK) cells, and is proposed to…”
Get full text