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

CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.

CLN5 缺乏会损害葡萄糖吸收,并揭示 PHGDH 是巴顿病的潜在生物标志物

Marchese Maria, Bernardi Sara, Vivarelli Rachele, Doccini Stefano, Santucci Lorenzo, Ogi Asahi, Licitra Rosario, Zang Jingjing, Soliymani Rabah, Mero Serena, Neuhauss Stephan Cf, Ciarmoli Lea, Signore Giovanni, Lalowski Maciej M, Santorelli Filippo M

Spatial proteomics finds CD155 and Endophilin-A1 as mediators of growth and invasion in medulloblastoma

空间蛋白质组学发现 CD155 和 Endophilin-A1 是髓母细胞瘤生长和侵袭的介质

Charles Capdeville ,Linda Russo ,David Penton ,Jessica Migliavacca ,Milica Zecevic ,Alexandre Gries ,Stephan Cf Neuhauss ,Michael A Grotzer ,Martin Baumgartner

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

rlbp1a 缺失导致类视黄酸代谢紊乱,损害视锥细胞功能,导致斑马鱼视网膜下脂质沉积和感光细胞变性

Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan Cf Neuhauss

Circadian regulation of vertebrate cone photoreceptor function

脊椎动物视锥细胞光感受器功能的昼夜节律调节

Jingjing Zang, Matthias Gesemann, Jennifer Keim, Marijana Samardzija, Christian Grimm, Stephan Cf Neuhauss

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

纤毛ARMC9/TOGARAM1蛋白模块功能障碍会导致Joubert综合征。

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara Ds; Letteboer, Stef Jf; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia Ec; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan Cf; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan

Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment

DCDC2基因中ETV6结合位点的多态性等位基因会增加阅读和语言障碍的风险。

Baple, Emma L; Maroofian, Reza; Chioza, Barry A; Izadi, Maryam; Cross, Harold E; Al-Turki, Saeed; Barwick, Katy; Skrzypiec, Anna; Pawlak, Robert; Wagner, Karin; Coblentz, Roselyn; Zainy, Tala; Patton, Michael A; Mansour, Sahar; Rich, Phillip; Qualmann, Britta; Hurles, Matt E; Kessels, Michael M; Crosby, Andrew H; Tuz, Karina; Bachmann-Gagescu, Ruxandra; O’Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O’Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan CF; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Powers, Natalie R; Eicher, John D; Butter, Falk; Kong, Yong; Miller, Laura L; Ring, Susan M; Mann, Matthias; Gruen, Jeffrey R

Visual acuity in larval zebrafish: behavior and histology

斑马鱼幼体的视觉敏锐度:行为学和组织学

Haug, Marion F; Biehlmaier, Oliver; Mueller, Kaspar P; Neuhauss, Stephan Cf