Distinct subtypes of proprioceptive dorsal root ganglion neurons regulate adaptive proprioception in mice

Autor: Channabasavaiah B. Gurumurthy, Konstantinos Meletis, Charles Petitpré, Saida Hadjab, Simone Wanderoy, Yiqiao Wang, Francois Lallemend, Anil Sharma, Paula Fontanet, Haohao Wu, Jorge L. Ruas, Paulo R. Jannig, Ole Kiehn, J. Alexander Heimel, Carmelo Bellardita, Rolen M. Quadros, Kylie K. Y. Cheung, Yang Xuan

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Wu, H, Petitpré, C, Fontanet, P, Sharma, A, Bellardita, C, Quadros, R M, Jannig, P R, Wang, Y, Heimel, J A, Cheung, K K Y, Wanderoy, S, Xuan, Y, Meletis, K, Ruas, J, Gurumurthy, C B, Kiehn, O, Hadjab, S & Lallemend, F 2021, ' Distinct subtypes of proprioceptive dorsal root ganglion neurons regulate adaptive proprioception in mice ', Nature Communications, vol. 12, no. 1, 1026 . https://doi.org/10.1038/s41467-021-21173-9
Nature Communications, 12(1). Nature Publishing Group

Proprioceptive neurons (PNs) are essential for the proper execution of all our movements by providing muscle sensory feedback to the central motor network. Here, using deep single cell RNAseq of adult PNs coupled with virus and genetic tracings, we m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423756c35932a96770a95f94cb7044fb
https://doaj.org/article/bf14515821cc4d14bb384469db2ce5f5

IDEAS: individual level differential expression analysis for single-cell RNA-seq data

Autor: Mengqi Zhang, Si Liu, Zhen Miao, Fang Han, Raphael Gottardo, Wei Sun

Publikováno v: Genome biology, vol. 23, no. 1, pp. 33
Genome Biology
Genome Biology, Vol 23, Iss 1, Pp 1-17 (2022)

We consider an increasingly popular study design where single-cell RNA-seq data are collected from multiple individuals and the question of interest is to find genes that are differentially expressed between two groups of individuals. Towards this en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666268c88da7466180a0a291811f9313
https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdf

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels

Autor: Simon Lovestone, Lars Bertram, Pieter Jelle Visser, Dmitry Prokopenko, Isabelle Bos, Régis Bordet, Daniel Alcolea, Sebastiaan Engelborghs, Betty M. Tijms, Silvy Gabel, Charlotte E. Teunissen, Olivier Blin, Jill C. Richardson, Olena Ohlei, Henrik Zetterberg, Richard Dobson, Christina M. Lill, Christopher M. Clark, Giovanni B. Frisoni, Philip Scheltens, Rik Vandenberghe, Johannes Streffer, Valerija Dobricic, Alberto Lleó, Cristina Legido-Quigley, Andre Franke, Mara ten Kate, Gwendoline Peyratout, Christine Van Broeckhoven, Kaj Blennow, Julius Popp, Frederik Barkhof, Stephanie J.B. Vos, Mikel Tainta, Michael Wittig, Pablo Martinez-Lage, Ulf Andreasson, Shengjun Hong, Alzheimer's Disease Neuroimaging Initiative, Kristel Sleegers, Rudolph E. Tanzi

Publikováno v: Alzheimer's & dementia
Hong, S, Dobricic, V, Ohlei, O, Bos, I, Vos, S J B, Prokopenko, D, Tijms, B M, Andreasson, U, Blennow, K, Vandenberghe, R, Gabel, S, Scheltens, P, Teunissen, C E, Engelborghs, S, Frisoni, G, Blin, O, Richardson, J C, Bordet, R, Lleó, A, Alcolea, D, Popp, J, Clark, C, Peyratout, G, Martinez-Lage, P, Tainta, M, Dobson, R J B, Legido-Quigley, C, Sleegers, K, van Broeckhoven, C, Tanzi, R E, ten Kate, M, Wittig, M, Franke, A, Lill, C M, Barkhof, F, Lovestone, S, Streffer, J, Zetterberg, H, Visser, P J, Alzheimer's Disease Neuroimaging Initiative (ADNI) & Bertram, L 2021, ' TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels ', Alzheimer's and Dementia, vol. 17, no. 10, pp. 1628-1640 . https://doi.org/10.1002/alz.12330
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, 17 (10), pp.1628-1640. ⟨10.1002/alz.12330⟩
Alzheimer's and Dementia, 17(10), 1628-1640. Elsevier

INTRODUCTION: Neurofilament light (NfL), chitinase-3-like protein 1 (YKL-40), and neurogranin (Ng) are biomarkers for Alzheimer's disease (AD) to monitor axonal damage, astroglial activation, and synaptic degeneration, respectively. METHODS: We perfo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a7979702499e1440d9d8f5abcf9b21
https://lirias.kuleuven.be/handle/20.500.12942/696352

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Autor: Barbier, Mathieu, Camuzat, Agnès, Hachimi, Khalid El, Guegan, Justine, Rinaldi, Daisy, Lattante, Serena, Houot, Marion, Sánchez-Valle, Raquel, Sabatelli, Mario, Antonell, Anna, Molina-Porcel, Laura, Clot, Fabienne, Couratier, Philippe, van der Ende, Emma, van der Zee, Julie, Manzoni, Claudia, Camu, William, Cazeneuve, Cécile, Sellal, François, Didic, Mira, Golfier, Véronique, Pasquier, Florence, Duyckaerts, Charles, Rossi, Giacomina, Bruni, Amalia C, Alvarez, Victoria, Gómez-Tortosa, Estrella, de Mendonça, Alexandre, Graff, Caroline, Masellis, Mario, Nacmias, Benedetta, Oumoussa, Badreddine Mohand, Jornea, Ludmila, Forlani, Sylvie, Van Deerlin, Viviana, Rohrer, Jonathan D, Gelpi, Ellen, Rademakers, Rosa, Van Swieten, John, Le Guern, Eric, Van Broeckhoven, Christine, Ferrari, Raffaele, Génin, Emmanuelle, Brice, Alexis, Ber, Le, Isabelle Alexis Brice, Sophie, Auriacombe, Serge, Belliard, Anne, Bertrand, Anne, Bissery, Fre ́ de, ́ ric Blanc, Marie-Paule, Boncoeur, Ste, ́ phanie Bombois, Claire Boutoleau-Bretonnie` re, Agne`, s Camuzat, Mathieu, Ceccaldi, Marie, Chupin, Philippe, Couratier, Olivier, Colliot, Vincent, Deramecourt, Mira, Didic, Bruno, Dubois, Charles, Duyckaerts, Fre ́ de, ́ rique Etcharry-Bouyx, Aure, ́ lie Guignebert-Funkiewiez, Maı ̈te, ́ Formaglio, ́ ronique Golfier, Ve, Marie-Odile, Habert, Didier, Hannequin, Lucette, Lacomblez, Julien, Lagarde, ́ raldine Lautrette, Ge, Isabelle Le Ber, Benjamin Le Toullec, Richard, Levy, Marie-Anne, Mackowiak, Bernard-Franc ̧ois Michel, Florence, Pasquier, Thibaud, Lebouvier, Carole Roue, ́ -Jagot, Christel Thauvin- Robinet, Catherine, Thomas-Anterion, Je ́ re, ́ mie Pariente, Franc ̧ois Salachas, Sabrina, Sayah, Franc ̧ois Sellal, Assi-Herve, ́ Oya, Daisy, Rinaldi, Adeline, Rollin-Sillaire, Martine, Vercelletto, David, Wallon, Armelle, Rametti-Lacroux, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavan, Ramasamy, Kwok, John B. J., Carol Dobson- Stone, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Isabel Herna, ́ ndez, Agustı ́n Ruiz, Merce`, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Diego, Albani, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, ́ n, Jordi Clarimo, Alberto Lleo, ́, Rafael, Blesa, Maria Landqvist Waldo, ̈, Karin, Nilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietro, Pietrini, Edward, Uey, Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle, Leber, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., David, Knopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, van Swieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Adeline, Rollin, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni.

Publikováno v: Brain, 144(9), 2798-2811. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, ' SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration ', Brain, vol. 144, no. 9, pp. 2798-2811 . https://doi.org/10.1093/brain/awab171
Brain

The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4744d719a32eac2edd4923af735fe737
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Autor: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4b
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxK