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

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

FRMPD4是导致智力障碍和癫痫的致病基因,也与X连锁非综合征性听力损失有关。

Liedtke, Daniel; Rak, Kristen; Schrode, Katrina M; Hehlert, Philip; Chamanrou, Niloofar; Bengl, Daniel; Katana, Radoslaw; Heydaran, Soganad; Doll, Julia; Han, Mei; Nanda, Indrajit; Senthilan, Pingkalai R; Jürgens, Lukas; Bieniussa, Linda; Voelker, Johannes; Neuner, Cordula; Hofrichter, Michaela Ah; Schröder, Jörg; Schellens, Renske T W; de Vrieze, Erik; van Wijk, Erwin; Zechner, Ulrich; Herms, Stefan; Hoffmann, Per; Müller, Tobias; Dittrich, Marcus; Bartsch, Oliver; Krawitz, Peter M; Klopocki, Eva; Shehata-Dieler, Wafaa; Maroofian, Reza; Wang, Tao; Worley, Paul F; Göpfert, Martin C; Galehdari, Hamid; Lauer, Amanda M; Haaf, Thomas; Vona, Barbara

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

CEP162 缺陷会导致人类视网膜变性,并揭示其在纤毛发生和神经发生中的双重作用

Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Dueñas; Käseberg, Stephan; Jäger, Melanie; Willer, Jason R; Winter, Jennifer; Truong, Hanh M; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stöhr, Heidi; Mansard, Luke; Roux, Anne-Françoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M; Van Lint, Michel; Rossmann, Heidi; Häuser, Friederike; Nürnberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N; De Baere, Elfride; Bolz, Hanno J

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

新型大片段FBN1框内缺失导致新生儿马凡综合征

Elgaz, Sümeyye; Wittekindt, Boris; Esmaeili, Anoosh; Fischer, Sebastian; Bolz, Hanno J; Zechner, Ulrich; Buxmann, Horst

Lipid presentation by the protein C receptor links coagulation with autoimmunity

蛋白C受体介导的脂质呈递将凝血与自身免疫联系起来

Müller-Calleja, Nadine; Hollerbach, Anne; Royce, Jennifer; Ritter, Svenja; Pedrosa, Denise; Madhusudhan, Thati; Teifel, Sina; Meineck, Myriam; Häuser, Friederike; Canisius, Antje; Nguyen, T Son; Braun, Johannes; Bruns, Kai; Etzold, Anna; Zechner, Ulrich; Strand, Susanne; Radsak, Markus; Strand, Dennis; Gu, Jian-Ming; Weinmann-Menke, Julia; Esmon, Charles T; Teyton, Luc; Lackner, Karl J; Ruf, Wolfram

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

与全面发育迟缓相关的KCND2变异体对Kv4.2通道门控的损害程度不同。

Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Bähring, Robert

CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squamous cell carcinoma

MyD88 和 ASC/PYCARD/TMS1 启动子区域的 CpG 岛在头颈部鳞状细胞癌和原发性肺鳞状细胞癌中存在差异甲基化。

Šutić, Maja; Baranašić, Jurica; Bilić, Lana Kovač; Bilić, Mario; Jakovčević, Antonija; Brčić, Luka; Seiwerth, Sven; Jakopović, Marko; Samaržija, Miroslav; Zechner, Ulrich; Knežević, Jelena

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

对患常染色体隐性遗传疾病风险增加的夫妇进行靶向二代测序分析

Komlosi, Katalin; Diederich, Stefan; Fend-Guella, Desiree Lucia; Bartsch, Oliver; Winter, Jennifer; Zechner, Ulrich; Beck, Michael; Meyer, Peter; Schweiger, Susann

Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer

对分化不良的甲状腺癌进行靶向癌症基因的下一代测序

Gerber, Tiemo S; Schad, Arno; Hartmann, Nils; Springer, Erik; Zechner, Ulrich; Musholt, Thomas J

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Kaiso介导人类ICR1甲基化维持和H19转录精细调控。

Bohne, Florian; Langer, David; Martiné, Ursula; Eider, Claudia S; Cencic, Regina; Begemann, Matthias; Elbracht, Miriam; Bülow, Luzie; Eggermann, Thomas; Zechner, Ulrich; Pelletier, Jerry; Zabel, Bernhard Ulrich; Enklaar, Thorsten; Prawitt, Dirk

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

S-腺苷高半胱氨酸水解酶(AHCY)缺乏症患者印记控制区异常高甲基化

Motzek, Antje; Knežević, Jelena; Switzeny, Olivier J; Cooper, Alexis; Barić, Ivo; Beluzić, Robert; Strauss, Kevin A; Puffenberger, Erik G; Mudd, S Harvey; Vugrek, Oliver; Zechner, Ulrich