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

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

接触蛋白相关蛋白样2 (CNTNAP-2) 发育障碍的基因型-表型相关性

D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotović, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barišić, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadža, Danijela Petković; Barić, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Rivière, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja

Network analysis reveals rare disease signatures across multiple levels of biological organization

网络分析揭示了罕见疾病在多个生物组织层级上的特征。

Buphamalai, Pisanu; Kokotovic, Tomislav; Nagy, Vanja; Menche, Jörg

Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients

扩大男性患者中 Mullegama-Klein-Martinez 综合征的已知表型

Freyberger, Fiona; Kokotović, Tomislav; Krnjak, Goran; Frković, Sanda Huljev; Nagy, Vanja

HACE1 deficiency leads to structural and functional neurodevelopmental defects

HACE1 缺乏会导致结构性和功能性神经发育缺陷

Nagy, Vanja; Hollstein, Ronja; Pai, Tsung-Pin; Herde, Michel K; Buphamalai, Pisanu; Moeseneder, Paul; Lenartowicz, Ewelina; Kavirayani, Anoop; Korenke, Georg Christoph; Kozieradzki, Ivona; Nitsch, Roberto; Cicvaric, Ana; Monje Quiroga, Francisco J; Deardorff, Matthew A; Bedoukian, Emma C; Li, Yun; Yigit, Gökhan; Menche, Jörg; Perçin, E Ferda; Wollnik, Bernd; Henneberger, Christian; Kaiser, Frank J; Penninger, Josef M

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception

进化上保守的转录因子PRDM12控制感觉神经元发育和疼痛感知。

Nagy, Vanja; Cole, Tiffany; Van Campenhout, Claude; Khoung, Thang M; Leung, Calvin; Vermeiren, Simon; Novatchkova, Maria; Wenzel, Daniel; Cikes, Domagoj; Polyansky, Anton A; Kozieradzki, Ivona; Meixner, Arabella; Bellefroid, Eric J; Neely, G Gregory; Penninger, Josef M

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis.

SHARPIN 形成线性泛素连接酶复合物,调节 NF-κB 活性和细胞凋亡

Ikeda Fumiyo, Deribe Yonathan Lissanu, Skånland Sigrid S, Stieglitz Benjamin, Grabbe Caroline, Franz-Wachtel Mirita, van Wijk Sjoerd J L, Goswami Panchali, Nagy Vanja, Terzic Janos, Tokunaga Fuminori, Androulidaki Ariadne, Nakagawa Tomoko, Pasparakis Manolis, Iwai Kazuhiro, Sundberg John P, Schaefer Liliana, Rittinger Katrin, Macek Boris, Dikic Ivan

The extracellular protease matrix metalloproteinase-9 is activated by inhibitory avoidance learning and required for long-term memory

细胞外蛋白酶基质金属蛋白酶-9在抑制性回避学习中被激活,并且是长期记忆所必需的。

Nagy, Vanja; Bozdagi, Ozlem; Huntley, George W