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

Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights

新生儿先天性肌无力综合征与CHAT基因变异相关:病例报告及治疗见解

Khalil, Mohammed Rohi; Laulund, Lone Walentin; Aavild Ploug, Anna Julie; Elle, Ida Coordt; Fenger-Groen, Jesper

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

更正:扩展EEF1A2变异个体的神经发育表型及基因型-表型研究

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

EEF1A2变异个体神经发育表型扩展及基因型-表型研究

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

扩展SYT1相关神经发育障碍的基因型和表型谱

Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A; Scott, Daniel J; Ziarek, Joshua J; Gordon, Sarah L; Baker, Kate

Kidney Single-cell Transcriptomes Predict Spatial Corticomedullary Gene Expression and Tissue Osmolality Gradients.

肾脏单细胞转录组预测皮髓质基因表达和组织渗透压梯度

Hinze Christian, Karaiskos Nikos, Boltengagen Anastasiya, Walentin Katharina, Redo Klea, Himmerkus Nina, Bleich Markus, Potter S Steven, Potter Andrew S, Eckardt Kai-Uwe, Kocks Christine, Rajewsky Nikolaus, Schmidt-Ott Kai M

Porphyromonas gingivalis Impairs Oral Epithelial Barrier through Targeting GRHL2

牙龈卟啉单胞菌通过靶向GRHL2损害口腔上皮屏障

Chen, W; Alshaikh, A; Kim, S; Kim, J; Chun, C; Mehrazarin, S; Lee, J; Lux, R; Kim, R H; Shin, K H; Park, N H; Walentin, K; Schmidt-Ott, K M; Kang, M K

GRHL2 Is Required for Collecting Duct Epithelial Barrier Function and Renal Osmoregulation

GRHL2是集合管上皮屏障功能和肾脏渗透压调节所必需的

Hinze, Christian; Ruffert, Janett; Walentin, Katharina; Himmerkus, Nina; Nikpey, Elham; Tenstad, Olav; Wiig, Helge; Mutig, Kerim; Yurtdas, Zeliha Yesim; Klein, Janet D; Sands, Jeff M; Branchi, Federica; Schumann, Michael; Bachmann, Sebastian; Bleich, Markus; Schmidt-Ott, Kai M

Grainyhead-like 2 (GRHL2) knockout abolishes oral cancer development through reciprocal regulation of the MAP kinase and TGF-β signaling pathways

Grainyhead-like 2 (GRHL2) 敲除可通过相互调节 MAP 激酶和 TGF-β 信号通路来消除口腔癌的发展

Wei Chen, Kyung L Kang, Abdullah Alshaikh, Saaket Varma, Yi-Ling Lin, Ki-Hyuk Shin, Reuben Kim, Cun-Yu Wang, No-Hee Park, Katharina Walentin, Kai M Schmidt-Ott, Mo K Kang0

Human Papillomavirus 16 E6 Induces FoxM1B in Oral Keratinocytes through GRHL2

人乳头瘤病毒 16 E6 通过 GRHL2 诱导口腔角质形成细胞中的 FoxM1B

W Chen, T Shimane, S Kawano, A Alshaikh, S Y Kim, S H Chung, R H Kim, K H Shin, K Walentin, N H Park, K M Schmidt-Ott, M K Kang