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

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Polycomb复合物与染色质结合失衡会导致神经发育障碍。

Borges Rodrigo L, González-Blanco Gretter, Arigela Harikumar, Huang Yingyu, Caeiro Lucas D, Fattakhov Nikolai, Lepore Stefano, Garcia-Martinez Liliana, Maurice Matea, Mehta Pushti D, Park Emily J, MacGillivray Kailynn, Nehru Jevithen, Chau Matthew, Robayo Maria C, Abad Clemer, Bilbao-Martinez Alicia, Monteiro Fabiola, Luo Xi, Tan Song, Bilbao Daniel, Sidoli Simone, Di Stefano Bruno, Walz Katherina, Saltzman Arneet L, Verdun Ramiro E, Shiekhattar Ramin, Morey Lluis

The involvement of TNFRSF25 in age-related hearing loss

TNFRSF25参与年龄相关性听力损失

Roche, Marie Valerie; Tang, Pei-Ciao; Yan, Denise; De Marchena, Michelle Rose; Robayo, Maria Camila; Abad, Clemer; Guo, Yan; Gong, Feng; Walz, Katherina; Liu, Xue Zhong

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SORD缺陷大鼠出现以运动功能为主的周围神经病变,揭示了新的病理生理学见解。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

遗传性听力损失的遗传异质性:纤毛运动蛋白 TOGARAM2 的潜在作用

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Fatal septicemia in 2 South American camelids with caudal C3-pyloric-duodenal adenocarcinoma

2只患有尾部C3-幽门-十二指肠腺癌的南美骆驼科动物死于败血症

Abad, Clemer; Fritz, Heather; Gonzales-Viera, Omar

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

MINAR2基因(编码膜整合型NOTCH2相关受体2)的突变会导致人类和小鼠耳聋。

Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

控制 GDF6 表达的长程顺式调控元件对耳朵发育至关重要。

Bademci, Guney; Abad, Clemer; Cengiz, Filiz B; Seyhan, Serhat; Incesulu, Armagan; Guo, Shengru; Fitoz, Suat; Atli, Emine Ikbal; Gosstola, Nicholas C; Demir, Selma; Colbert, Brett M; Seyhan, Gozde Cosar; Sineni, Claire J; Duman, Duygu; Gurkan, Hakan; Morton, Cynthia C; Dykxhoorn, Derek M; Walz, Katherina; Tekin, Mustafa

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

GRAP基因功能障碍(GRAP编码GRB2相关衔接蛋白)与感音神经性听力损失有关。

Li, Chong; Bademci, Guney; Subasioglu, Asli; Diaz-Horta, Oscar; Zhu, Yi; Liu, Jiaqi; Mitchell, Timothy Gavin; Abad, Clemer; Seyhan, Serhat; Duman, Duygu; Cengiz, Filiz Basak; Tokgoz-Yilmaz, Suna; Blanton, Susan H; Farooq, Amjad; Walz, Katherina; Zhai, R Grace; Tekin, Mustafa

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Rai1单倍体不足与小鼠的社交异常有关

Rao, Nalini R; Abad, Clemer; Perez, Irene C; Srivastava, Anand K; Young, Juan I; Walz, Katherina

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

ROR1对于人类和小鼠听觉毛细胞的正常神经支配和听觉至关重要。

Diaz-Horta, Oscar; Abad, Clemer; Sennaroglu, Levent; Foster, Joseph 2nd; DeSmidt, Alexandra; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F Basak; Grati, M'hamed; Fitoz, Suat; Liu, Xue Z; Farooq, Amjad; Imtiaz, Faiqa; Currall, Benjamin B; Morton, Cynthia Casson; Nishita, Michiru; Minami, Yasuhiro; Lu, Zhongmin; Walz, Katherina; Tekin, Mustafa