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

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

SART3 变异会导致剪接体病,其特征是睾丸发育失败和神经元缺陷

Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B Schittenhelm, Cheng Huang, Gorjana Robevska, 

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

透明纤维瘤病综合征和蛋白丢失性肠病患者十二指肠胶原沉积增强

Jorik M van Rijn, Lael Werner, Yusuf Aydemir, Joey M A Spronck, Ben Pode-Shakked, Marliek van Hoesel, Elee Shimshoni, Sylvie Polak-Charcon, Liron Talmi, Makbule Eren, Batia Weiss, Roderick H J Houwen, Iris Barshack, Raz Somech, Edward E S Nieuwenhuis, Irit Sagi, Annick Raas-Rothschild, Sabine Midden

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

DDRGK1 的缺失调节脊椎骨骺端发育不良中的 SOX9 泛素化

Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, David S Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C Swindell, Daniel H Cohn, Richard A Gibbs, Philippe M Campeau, Mordechai Shohat, Brendan H Lee

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

在含有 WAVE 和 FMRP 的复合物中对 CYFIP1 调节功能的新见解

Sabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Peter Szatmari, Isabel M Sm