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

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models

基于人类遗传数据和斑马鱼模型的ZFHX4在唇腭裂中的作用

Ishorst, Nina; Hölzel, Selina; Greve, Carola; Yilmaz, Öznur; Lindenberg, Tobias; Lambertz, Jessica; Drichel, Dmitriy; Zametica, Berina; Mingardo, Enrico; Kalanithy, Jeshurun C; Channab, Khadija; Kibris, Duygu; Henne, Sabrina; Degenhardt, Franziska; Siewert, Anna; Dixon, Michael; Kruse, Teresa; Ongkosuwito, Edwin; Girisha, Katta M; Pande, Shruti; Nowak, Stefanie; Hagelueken, Gregor; Geyer, Matthias; Carels, Carine; van Rooij, Iris A L M; Ludwig, Kerstin U; Odermatt, Benjamin; Mangold, Elisabeth

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

ABL1单倍体不足与显性孤立性脐膨出相关。

Kolvenbach, Caroline M; Yilmaz, Öznur; Lopes, Filipa M; Kalanithy, Jeshurun C; Lemberg, Katharina; Sharma, Vineeta; Majmundar, Amar J; Geyer, Matthias; Woolf, Adrian S; Hildebrandt, Friedhelm; Odermatt, Benjamin; Reutter, Heiko

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

TFAP2E与中枢神经系统、口面部和颌面部畸形有关。

Kalanithy, Jeshurun C; Mingardo, Enrico; Stegmann, Jil D; Dhakar, Ramgopal; Dakal, Tikam Chand; Rosenfeld, Jill A; Tan, Wen-Hann; Coury, Stephanie A; Woerner, Audrey C; Sebastian, Jessica; Levy, Paul A; Fleming, Leah R; Waffenschmidt, Lea; Lindenberg, Tobias T; Yilmaz, Öznur; Channab, Khadija; Babra, Bimaljeet K; Christ, Andrea; Eiberger, Britta; Hölzel, Selina; Vidic, Clara; Häberlein, Felix; Ishorst, Nina; Rodriguez-Gatica, Juan E; Pezeshkpoor, Behnaz; Kupczyk, Patrick A; Vanakker, Olivier M; Loddo, Sara; Novelli, Antonio; Dentici, Maria L; Becker, Albert; Thiele, Holger; Posey, Jennifer E; Lupski, James R; Hilger, Alina C; Reutter, Heiko M; Merz, Waltraut M; Dworschak, Gabriel C; Odermatt, Benjamin

Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells

电压门控钙通道拮抗剂尼莫地平对少突胶质细胞前体细胞发育的影响

Enders, Michael; Weier, Alicia; Chunder, Rittika; An, Young; Bremm, Franziska; Feigenspan, Andreas; Buettner, Christian; Ekici, Arif Bülent; Mingardo, Enrico; Odermatt, Benjamin; Kuerten, Stefanie

Modelling human lower urinary tract malformations in zebrafish

利用斑马鱼模拟人类下尿路畸形

Kolvenbach, Caroline M; Dworschak, Gabriel C; Rieke, Johanna M; Woolf, Adrian S; Reutter, Heiko; Odermatt, Benjamin; Hilger, Alina C

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

一项结合组织转录组学的全基因组关联研究揭示了经典膀胱外翻的遗传驱动因素

Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris A L M; Feitz, Wouter F J; Marcelis, Carlo L M; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie M Y; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko

Dynamic assembly of ribbon synapses and circuit maintenance in a vertebrate sensory system

脊椎动物感觉系统中带状突触的动态组装和回路维持

Okawa, Haruhisa; Yu, Wan-Qing; Matti, Ulf; Schwarz, Karin; Odermatt, Benjamin; Zhong, Haining; Tsukamoto, Yoshihiko; Lagnado, Leon; Rieke, Fred; Schmitz, Frank; Wong, Rachel O L

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

BNC2基因的罕见变异与常染色体显性遗传性先天性下尿路梗阻有关

Kolvenbach, Caroline M; Dworschak, Gabriel C; Frese, Sandra; Japp, Anna S; Schuster, Peggy; Wenzlitschke, Nina; Yilmaz, Öznur; Lopes, Filipa M; Pryalukhin, Alexey; Schierbaum, Luca; van der Zanden, Loes F M; Kause, Franziska; Schneider, Ronen; Taranta-Janusz, Katarzyna; Szczepańska, Maria; Pawlaczyk, Krzysztof; Newman, William G; Beaman, Glenda M; Stuart, Helen M; Cervellione, Raimondo M; Feitz, Wouter F J; van Rooij, Iris A L M; Schreuder, Michiel F; Steffens, Martijn; Weber, Stefanie; Merz, Waltraut M; Feldkötter, Markus; Hoppe, Bernd; Thiele, Holger; Altmüller, Janine; Berg, Christoph; Kristiansen, Glen; Ludwig, Michael; Reutter, Heiko; Woolf, Adrian S; Hildebrandt, Friedhelm; Grote, Phillip; Zaniew, Marcin; Odermatt, Benjamin; Hilger, Alina C

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

编码γ-分泌酶亚基的PSENEN基因突变是与反向痤疮相关的道林-德戈斯病的基础。

Ralser, Damian J; Basmanav, F Buket Ü; Tafazzoli, Aylar; Wititsuwannakul, Jade; Delker, Sarah; Danda, Sumita; Thiele, Holger; Wolf, Sabrina; Busch, Michélle; Pulimood, Susanne A; Altmüller, Janine; Nürnberg, Peter; Lacombe, Didier; Hillen, Uwe; Wenzel, Jörg; Frank, Jorge; Odermatt, Benjamin; Betz, Regina C

Uncoupling of neurogenesis and differentiation during retinal development

视网膜发育过程中神经发生与分化的脱钩

Engerer, Peter; Suzuki, Sachihiro C; Yoshimatsu, Takeshi; Chapouton, Prisca; Obeng, Nancy; Odermatt, Benjamin; Williams, Philip R; Misgeld, Thomas; Godinho, Leanne