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

Evolution of microRNAs in Amoebozoa and implications for the origin of multicellularity

变形虫中microRNA的进化及其对多细胞起源的意义

Edelbroek, Bart; Kjellin, Jonas; Biryukova, Inna; Liao, Zhen; Lundberg, Torgny; Noegel, Angelika A; Eichinger, Ludwig; Friedländer, Marc R; Söderbom, Fredrik

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

CSNK2B 的新生变异通过破坏经典 Wnt 信号通路导致新的智力障碍——颅指综合征

Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, L

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

PCDHGC4基因的双等位基因变异会导致一种新型神经发育综合征,其特征为进行性小头畸形、癫痫发作和关节异常。

Iqbal, Maria; Maroofian, Reza; Çavdarlı, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gökhan

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

双等位基因 SYNE2 错义突变导致 Nesprin-2 巨大表达不足,与智力障碍和自闭症有关

Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández-Ja

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

巴基斯坦32个近亲结婚家庭中ASPM、WDR62、CDK5RAP2、STIL、CENPJ和CEP135致病变异的最新研究结果,这些变异与常染色体隐性遗传原发性小头畸形有关

Rasool, Sajida; Baig, Jamshaid Mahmood; Moawia, Abubakar; Ahmad, Ilyas; Iqbal, Maria; Waseem, Syeda Seema; Asif, Maria; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Kaygusuz, Emrah; Zakaria, Muhammad; Ramzan, Shafaq; Haque, Saif Ul; Mir, Asif; Anjum, Iram; Fiaz, Mehak; Ali, Zafar; Tariq, Muhammad; Saba, Neelam; Hussain, Wajid; Budde, Birgit; Irshad, Saba; Noegel, Angelika Anna; Höning, Stefan; Baig, Shahid Mahmood; Nürnberg, Peter; Hussain, Muhammad Sajid

Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model

Syne-2/Nesprin-2 基因敲除小鼠模型缺乏视网膜表型

Nathalie Falk, Anneka Joachimsthaler, Kristin Kessler, Uwe Thorsten Lux, Angelika Anna Noegel, Jan Kremers, Johann Helmut Brandstätter, Andreas Gießl, Nathalie Falk, Anneka Joachimsthaler, Kristin Kessler, Uwe Thorsten Lux, Angelika Anna Noegel, Jan Kremers, Johann Helmut Brandstätter, Andreas Gießl

CRN2 binds to TIMP4 and MMP14 and promotes perivascular invasion of glioblastoma cells

CRN2 与 TIMP4 和 MMP14 结合并促进胶质母细胞瘤细胞的血管周围侵袭

Roxana Solga, Juliane Behrens, Anja Ziemann, Adrien Riou, Carolin Berwanger, Lore Becker, Lillian Garrett, Martin Hrabe de Angelis, Lisa Fischer, Roland Coras, Katalin Barkovits, Katrin Marcus, Esther Mahabir, Ludwig Eichinger, Rolf Schröder, Angelika A Noegel, Christoph S Clemen; German Mouse Clini

Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice

Nesprin-2 的消耗与小鼠的胚胎致死表型有关

Carmen Mroß, Marija Marko, Martina Munck, Gernot Glöckner, Susanne Motameny, Janine Altmüller, Angelika A Noegel, Ludwig Eichinger, Vivek S Peche, Sascha Neumann

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

KIF14 突变通过损害胞质分裂导致原发性小头畸形

Abubakar Moawia, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde, Amit Kawalia, Susanne Motameny, Kamal Khan, Ambrin Fatima, Muhammad Jameel, Farid Ullah, Talia Akram, Zafar Ali, Uzma Abdullah, Saba Irshad, Wolfgang Höhne, Angelika Anna Noegel, Mohammed Al-Owain, Konstanze

Erratum to: Ablation of cyclase-associated protein 2 (CAP2) leads to cardiomyopathy

更正:环化酶相关蛋白 2 (CAP2) 缺失导致心肌病

Peche, Vivek S; Holak, Tad A; Burgute, Bhagyashri D; Kosmas, Kosmas; Kale, Sushant P; Wunderlich, F Thomas; Elhamine, Fatiha; Stehle, Robert; Pfitzer, Gabriele; Nohroudi, Klaus; Addicks, Klaus; Stöckigt, Florian; Schrickel, Jan W; Gallinger, Julia; Schleicher, Michael; Noegel, Angelika A