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

CAV1-A Susceptibility Gene for Atrial Fibrillation: The Impact of Coding and Noncoding Variants.

CAV1-A 心房颤动易感基因:编码和非编码变异的影响。

Rädecke Kristin, Rheinert David, Löwen Annette, Wiedmann Felix, Diebold Sabrina, Diofano Federica, Weiß Birgit, Röth Ralph, Schmitteckert Stefanie, Clauss Sebastian, Kääb Stefan, Just Steffen, Schmidt Constanze, Rappold Gudrun A, Hoffmann Sandra

Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides

将shox/shox2缺陷与fgfr3功能获得和利钠肽联系起来

Hoffmann, Sandra; Diebold, Sabrina; Roeth, Ralph; Löwen, Annette; Mellein, Stefanie; Just, Steffen; Rappold, Gudrun A

Inhibition of Phosphodiesterase 10A by MP-10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

MP-10抑制磷酸二酯酶10A可挽救FOXP1综合征小鼠模型的行为缺陷,并使小胶质细胞形态和突触修剪恢复正常。

Fröhlich, Henning; Wang, Jing; Althammer, Ferdinand; Schubert, Tim; Kluck, Nina; Grinevich, Valery; Schmitteckert, Stefanie; Schaaf, Christian P; Rappold, Gudrun A

2024 ASHG awards and addresses

2024年ASHG奖项及致辞

Rappold, Gudrun A; Ahituv, Nadav; Pericak-Vance, Margaret A; Morton, Cynthia C

Identification of novel genes including NAV2 associated with isolated tall stature

鉴定出与孤立性高个子相关的包括NAV2在内的新基因

Weiss, Birgit; Ott, Tim; Vick, Philipp; Lui, Julian C; Roeth, Ralph; Vogel, Sebastian; Waldmüller, Stephan; Hoffmann, Sandra; Baron, Jeffrey; Wit, Jan M; Rappold, Gudrun A

The serotonin receptor 3E variant is a risk factor for female IBS-D

血清素受体3E变异体是女性腹泻型肠易激综合征(IBS-D)的风险因素。

Fritz, Nikola; Berens, Sabrina; Dong, Yuanjun; Martínez, Cristina; Schmitteckert, Stefanie; Houghton, Lesley A; Goebel-Stengel, Miriam; Wahl, Verena; Kabisch, Maria; Götze, Dorothea; D'Amato, Mauro; Zheng, Tenghao; Röth, Ralph; Mönnikes, Hubert; Tesarz, Jonas; Engel, Felicitas; Gauss, Annika; Raithel, Martin; Andresen, Viola; Keller, Jutta; Frieling, Thomas; Pehl, Christian; Stein-Thöringer, Christoph; Clarke, Gerard; Kennedy, Paul J; Cryan, John F; Dinan, Timothy G; Quigley, Eamonn M M; Spiller, Robin; Beltrán, Caroll; Madrid, Ana María; Torres, Verónica; Mayer, Emeran A; Sayuk, Gregory; Gazouli, Maria; Karamanolis, George; Bustamante, Mariona; Estivil, Xavier; Rabionet, Raquel; Hoffmann, Per; Nöthen, Markus M; Heilmann-Heimbach, Stefanie; Schmidt, Börge; Franke, André; Lieb, Wolfgang; Herzog, Wolfgang; Boeckxstaens, Guy; Wouters, Mira M; Simrén, Magnus; Rappold, Gudrun A; Vicario, Maria; Santos, Javier; Schaefert, Rainer; Lorenzo-Bermejo, Justo; Niesler, Beate

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

帕金森病小鼠在运动障碍发作前很久,肠道就表现出功能和分子水平的变化。

Gries, Manuela; Christmann, Anne; Schulte, Steven; Weyland, Maximilian; Rommel, Stephanie; Martin, Monika; Baller, Marko; Röth, Ralph; Schmitteckert, Stefanie; Unger, Marcus; Liu, Yang; Sommer, Frederik; Mühlhaus, Timo; Schroda, Michael; Timmermans, Jean-Pierre; Pintelon, Isabel; Rappold, Gudrun A; Britschgi, Markus; Lashuel, Hilal; Menger, Michael D; Laschke, Matthias W; Niesler, Beate; Schäfer, Karl-Herbert

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder

越来越多的证据表明,基因突变会导致自闭症谱系障碍患者的大脑和肠道功能障碍。

Niesler, Beate; Rappold, Gudrun A

Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

更正:发育过程中突触后和突触外 SHANK2A 功能失衡会影响 SHANK2 介导的神经精神疾病中的社会行为

Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A; Oettl, Lars-Lennart; Rozov, Andrey; Pitzer, Claudia; Röth, Ralph; Berkel, Simone; Hüser, Markus; Harten, Aliona; Kelsch, Wolfgang; Smit, August B; Rappold, Gudrun A; Sprengel, Rolf

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

非综合征性家族性高大症具有寡基因起源(包括纤毛基因)的证据

Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A; Baron, Jeffrey; Wit, Jan M; Rappold, Gudrun A