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Jonàs Juan-Mateu
Jonàs Juan-Mateu
在 crg.eu 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
DMD mutations in 576 dystrophinopathy families: a step forward in genotype-phenotype correlations
J Juan-Mateu, L Gonzalez-Quereda, MJ Rodriguez, M Baena, E Verdura, ...
PloS one 10 (8), e0135189, 2015
1572015
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes
M Ramos-Rodríguez, H Raurell-Vila, ML Colli, MI Alvelos, ...
Nature genetics 51 (11), 1588-1595, 2019
1282019
MicroRNAs miR-23a-3p, miR-23b-3p, and miR-149-5p regulate the expression of proapoptotic BH3-only proteins DP5 and PUMA in human pancreatic β-cells
FA Grieco, G Sebastiani, J Juan-Mateu, O Villate, L Marroqui, L Ladrière, ...
Diabetes 66 (1), 100-112, 2017
1112017
An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells
ML Colli, M Ramos-Rodríguez, ES Nakayasu, MI Alvelos, M Lopes, ...
Nature communications 11 (1), 2584, 2020
1022020
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
J Juan-Mateu, MJ Rodríguez, A Nascimento, C Jiménez-Mallebrera, ...
Orphanet journal of rare diseases 7, 1-13, 2012
652012
Neuron-enriched RNA-binding proteins regulate pancreatic beta cell function and survival
J Juan-Mateu, TH Rech, O Villate, E Lizarraga-Mollinedo, A Wendt, ...
Journal of Biological Chemistry 292 (8), 3466-3480, 2017
632017
Mechanisms in endocrinology: alternative splicing: the new frontier in diabetes research
J Juan-Mateu, O Villate, DL Eizirik
European journal of endocrinology 174 (5), R225-R238, 2016
622016
SRp55 regulates a splicing network that controls human pancreatic β-cell function and survival
J Juan-Mateu, MI Alvelos, JV Turatsinze, O Villate, E Lizarraga-Mollinedo, ...
Diabetes 67 (3), 423-436, 2018
562018
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes
J Juan-Mateu, L González-Quereda, MJ Rodríguez, E Verdura, K Lázaro, ...
PloS one 8 (3), e59916, 2013
502013
The miRNAs miR-211-5p and miR-204-5p modulate ER stress in human beta cells
FA Grieco, AA Schiavo, F Brozzi, J Juan-Mateu, M Bugliani, P Marchetti, ...
Journal of molecular endocrinology 63 (2), 139-149, 2019
432019
When one becomes many—Alternative splicing in β‐cell function and failure
MI Alvelos, J Juan‐Mateu, ML Colli, JV Turatsinze, DL Eizirik
Diabetes, obesity and metabolism 20, 77-87, 2018
342018
The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells
MI Alvelos, M Brüggemann, FXR Sutandy, J Juan-Mateu, ML Colli, ...
Life Science Alliance 4 (3), 2021
172021
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
J Juan‐Mateu, C Paradas, M Olive, E Verdura, E Rivas, ...
Clinical genetics 82 (6), 574-578, 2012
132012
Pancreatic microexons regulate islet function and glucose homeostasis
J Juan-Mateu, S Bajew, M Miret-Cuesta, LP Íñiguez, A Lopez-Pascual, ...
Nature Metabolism 5 (2), 219-236, 2023
122023
Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies
J Juan-Mateu, P Gallano, MJ Trujillo-Tiebas
Medicina Clinica 139 (7), 307-312, 2012
7*2012
LMNA mutation in progeroid syndrome in association with strokes
L Gonzalez-Quereda, V Delgadillo, J Juan-Mateu, E Verdura, ...
European Journal of Medical Genetics 54 (6), e576-e579, 2011
62011
P. 2.14 Isolated cognitive abnormalities associated to DMD mutations
J Juan-Mateu, L González-Quereda, MJ Rodriguez, C Jou, A Nascimento, ...
Neuromuscular Disorders 23 (9), 753, 2013
42013
Regulation of β-cell death by ADP-ribosylhydrolase ARH3 via lipid signaling in insulitis
S Sarkar, C Deiter, JE Kyle, MA Guney, D Sarbaugh, R Yin, X Li, Y Cui, ...
Cell Communication and Signaling 22 (1), 141, 2024
22024
Minority report: The minor spliceosome as a novel cancer vulnerability factor
J Juan-Mateu, J Valcárcel
Molecular Cell 83 (12), 1958-1960, 2023
12023
Control of pancreatic islet function and glucose homeostasis by a novel microexon program misregulated in type 2 diabetes
J Juan-Mateu, S Bajew, M Miret-Cuesta, LP Íñiguez, A López-Pascual, ...
bioRxiv, 2022.04. 02.486809, 2022
12022
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