日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel transcriptomic signatures associated with premature kidney allograft failure

与肾移植早期失败相关的新型转录组特征

Hruba, Petra; Klema, Jiri; Le, Anh Vu; Girmanova, Eva; Mrazova, Petra; Massart, Annick; Maixnerova, Dita; Voska, Ludek; Piredda, Gian Benedetto; Biancone, Luigi; Puga, Ana Ramirez; Seyahi, Nurhan; Sever, Mehmet Sukru; Weekers, Laurent; Muhfeld, Anja; Budde, Klemens; Watschinger, Bruno; Miglinas, Marius; Zahradka, Ivan; Abramowicz, Marc; Abramowicz, Daniel; Viklicky, Ondrej

A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers

阿尔茨海默病的外周特征以微生物-肠-脑轴标志物为特征

Moira Marizzoni, Peppino Mirabelli, Elisa Mombelli, Luigi Coppola, Cristina Festari, Nicola Lopizzo, Delia Luongo, Monica Mazzelli, Daniele Naviglio, Jean-Louis Blouin, Marc Abramowicz, Marco Salvatore, Michela Pievani, Annamaria Cattaneo, Giovanni B Frisoni0

A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases

COL4A1/A2 小血管病的新型人类 iPSC 模型揭示了基质金属蛋白酶的关键致病作用

Maha Al-Thani, Mary Goodwin-Trotman, Steven Bell, Krushangi Patel, Lauren K Fleming, Catheline Vilain, Marc Abramowicz, Stuart M Allan, Tao Wang, M Zameel Cader, Karen Horsburgh, Tom Van Agtmael, Sanjay Sinha, Hugh S Markus, Alessandra Granata

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

采用综合方法解释 DYRK1A 变异,导致常见的神经发育障碍

Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, Marie Vincent, Maria Del Mar Muniz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Elise Schaefer, Mathilde Nizon, Bénédicte Gerard, Marc Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Burglen, Magalie Barth, Perrine Charles, Est

Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease

供体来源的髓系血红素加氧酶-1 控制移植物抗宿主病的发展

Chloé Spilleboudt, Virginie De Wilde, Philippe Lewalle, Ludovic Cabanne, Mathieu Leclerc, Florence Beckerich, Dominique Bories, Silvia Cardoso, Miguel P Soares, Benoît Vokaer, Jean-Michel Hougardy, Véronique Flamand, Judith Racapé, Marc Abramowicz, Sébastien Maury, Alain Le Moine

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

TrkA 介导新的 KIDINS220 突变对人类脑室扩张的影响

Valerie Jacquemin, Mathieu Antoine, Sarah Duerinckx, Annick Massart, Julie Desir, Camille Perazzolo, Marie Cassart, Dominique Thomas, Valérie Segers, Sophie Lecomte, Marc Abramowicz, Isabelle Pirson

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

青春期延迟和原发性闭经的姐妹中 NOBOX 复合杂合无效突变

Asma Sassi, Julie Désir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

杂合 RFX6 蛋白截短变异与外显率降低的 MODY 相关

Kashyap A Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W Laver, Kevin Colclough, Matthew B Johnson, Marc Abramowicz, Leif Groop, Päivi J Miettinen, Maggie H Shepherd, Sarah E Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N Weedon

UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort

在一项大型白种人队列研究中,UMOD多态性rs12917707与严重的或稳定的IgA肾病无关。

Dinic, Miriana; Ghisdal, Lidia; Racapé, Judith; Thibaudin, Lise; Gatault, Philippe; Essig, Marie; Le Meur, Yann; Noël, Christian; Touchard, Guy; Merville, Pierre; Ajarchouh, Zineb; Mariat, Christophe; Abramowicz, Marc; Abramowicz, Daniel; Alamartine, Eric

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

tRNA 甲基转移酶同源基因 TRMT10A 突变与人类早发性糖尿病和原发性小头畸形

Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Mi