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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders

与神经发育障碍相关的新生GABBR1和GABBR2变异的功能特征

Stawarski, Michal; Bielopolski, Noa; Roitman, Ilana; Fridman, Karen; Wald-Altman, Shane; Eitel, Megan; Hui, Benedict; Vulto-van Silfhout, Anneke; Stegmann, Alexander P A; Chirita-Emandi, Adela; Eason, Jacqueline; Bradshaw, Kirsty; Darnell, Lewis; Kostrzewa, Grażyna; Ploski, Rafal; Meurs, Romane; Batté, Amandine; Antonarakis, Stylianos E; Gassmann, Martin; Bettler, Bernhard

Common and Distinct Features in Serum Proteomic Profiles in Keratoconus, Post-Laser Vision Correction Ectasia, and Pellucid Marginal Degeneration

圆锥角膜、激光视力矫正术后角膜扩张和透明角膜边缘变性患者血清蛋白质组学特征的共同点和独特之处

Jaskiewicz-Rajewicz, Katarzyna; Wysocka, Alicja; Matuszewska-Mach, Eliza; Rzetecka, Natalia; Maleszka-Kurpiel, Magdalena; Wozniak, Jakub; Michalski, Andrzej; Udziela, Monika; Szaflik, Jacek P; Ploski, Rafal; Rydzanicz, Malgorzata; Matysiak, Jan; Gajecka, Marzena

"Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus

“眼锥”空间转录组学揭示圆锥角膜患者角膜中层特异性分子改变

Wysocka, Alicja; Jaskiewicz-Rajewicz, Katarzyna; Wozniak, Jakub; Rydzanicz, Malgorzata; Ploski, Rafal; Udziela, Monika; Szaflik, Jacek P; Gajecka, Marzena

Acute stress uncovers latent β2-adrenergic receptor and Corticotropin Releasing Factor interactions in the ventral Bed Nucleus of the Stria Terminalis critical for long-term stress-avoidance behavior

急性应激会激活终纹腹侧床核中潜在的β2-肾上腺素能受体和促肾上腺皮质激素释放因子之间的相互作用,这对于长期应激回避行为至关重要。

Showemimo, Opeyemi; Snyder, Angela E; Tariq, Arisha; Bingaman, Sarah S; Arnold, Amy C; Paul, Anirban; Ploski, Jonathan E; Silberman, Yuval

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement

由MAP2K2变异引起的4型心面皮肤综合征:表型谱扩大,包括喂养功能障碍和神经发育障碍

Świeca, Aleksandra; Rydzanicz, Małgorzata; Ploski, Rafal; Szczałuba, Krzysztof

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

A sensory and motor neuropathy caused by a genetic variant of NAMPT.

由 NAMPT 基因变异引起的感觉运动神经病。

Zhang Zhe, Pilch Jacek, Lundt Samuel, Zhang Nannan, Chang Yongchang, Singer Tracey, Śladowski Dariusz, Hu Xiao-Ling, Zheng Lijun, Ge Woo-Ping, Zhang Hua, Li De-Pei, Han Xianlin, Ploski Rafal, Ding Shinghua

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

Inter-Eye Molecular Discrepancies in the Corneal Epithelium Point to TFRC in the Keratoconus Severity Signature and Mechanism of Cone Formation

角膜上皮细胞的眼间分子差异指向圆锥角膜严重程度特征和锥体形成机制中的TFRC

Jaskiewicz-Rajewicz, Katarzyna; Wysocka, Alicja; Maleszka-Kurpiel, Magdalena; Matuszewska-Mach, Eliza; Wozniak, Jakub; Ploski, Rafal; Matysiak, Jan; Rydzanicz, Malgorzata; Gajecka, Marzena