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

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus

神经祖细胞中FLVCR1a依赖性线粒体钙处理的失调导致先天性脑积水

Francesca Bertino ,Dibyanti Mukherjee ,Massimo Bonora ,Christoph Bagowski ,Jeannette Nardelli ,Livia Metani ,Diletta Isabella Zanin Venturini ,Diego Chianese ,Nicolas Santander ,Iris Chiara Salaroglio ,Andreas Hentschel ,Elisa Quarta ,Tullio Genova ,Arpana Arjun McKinney ,Anna Lucia Allocco ,Veronica Fiorito ,Sara Petrillo ,Giorgia Ammirata ,Francesco De Giorgio ,Evan Dennis ,Garrett Allington ,Felicitas Maier ,Moneef Shoukier ,Karl-Philipp Gloning ,Luca Munaron ,Federico Mussano ,Ettore Salsano ,Davide Pareyson ,Maja di Rocco ,Fiorella Altruda ,Georgia Panagiotakos ,Kristopher T Kahle ,Pierre Gressens ,Chiara Riganti ,Paolo P Pinton ,Andreas Roos ,Thomas Arnold ,Emanuela Tolosano ,Deborah Chiabrando

The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation

转录因子 Bcl11b 促进典型和适应性 NK 细胞分化

Tim D Holmes, Ram Vinay Pandey, Eric Y Helm, Heinrich Schlums, Hongya Han, Tessa M Campbell, Theodore T Drashansky, Samuel Chiang, Cheng-Ying Wu, Christine Tao, Moneef Shoukier, Eva Tolosa, Sandra Von Hardenberg, Miao Sun, Christian Klemann, Rebecca A Marsh, Colleen M Lau, Yin Lin, Joseph C Sun, Rob

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization

CASK 中的错义突变(编码钙/钙调蛋白依赖性丝氨酸蛋白激酶)会干扰神经连接蛋白的结合和神经连接蛋白诱导的寡聚化

Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, Carsten Reißner, Kerstin Becker, Bri Dingmann, Ghayda Mirzaa, Anja A Kattentidt-Mouravieva, Moneef Shoukier, Shagun Aggarwal, Markus Missler, Kerstin Kutsche, Hans-Jürgen Kreienkamp

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

婴儿全身动脉钙化 1 型 (GACI1):鉴定一种新型致病变异 (c.1715T>C (p.Leu572Ser))

Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi