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

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

纯合隐性 Versican 错义变异与巴基斯坦家庭早期牙齿脱落有关

Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

深度 RNA 分析确定 CLOCK 和分子钟基因是胶原蛋白 VI 肌病的病理生理特征

Chiara Scotton, Matteo Bovolenta, Elena Schwartz, Maria Sofia Falzarano, Elena Martoni, Chiara Passarelli, Annarita Armaroli, Hana Osman, Carmelo Rodolico, Sonia Messina, Elena Pegoraro, Adele D'Amico, Enrico Bertini, Francesca Gualandi, Marcella Neri, Rita Selvatici, Patrizia Boffi, Maria Antoniett

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

DMD 外显子 5 IRES 的翻译可产生功能性肌营养不良蛋白异构体,从而减轻人类和小鼠的肌营养不良蛋白病

Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto, Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Simona Brioschi, Matteo Bovolenta, Marcella Neri, Francesca Gualandi, Steve D Wilt

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

涉及嗅觉受体基因簇的杂合亚显微倒位介导了复发性 t(4;8)(p16;p23) 易位。

Giglio, Sabrina; Calvari, Vladimiro; Gregato, Giuliana; Gimelli, Giorgio; Camanini, Silvia; Giorda, Roberto; Ragusa, Angela; Guerneri, Silvana; Selicorni, Angelo; Stumm, Marcus; Tonnies, Holger; Ventura, Mario; Zollino, Marcella; Neri, Giovanni; Barber, John; Wieczorek, Dagmar; Rocchi, Mariano; Zuffardi, Orsetta