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

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease

耳蜗血管病变的修复可预防诺里氏病中的感觉毛细胞丢失。

Patel, Aara; Pauzuolyte, Valda; Ingham, Neil J; Leong, Yeh Chwan; Berger, Wolfgang; Steel, Karen P; Sowden, Jane C

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

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

Norrie病中听觉感觉缺陷出现的时间对治疗干预具有重要意义。

Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; Moulding, Dale A; Leong, Yeh C; Jafree, Daniyal J; Long, David A; Al-Yassin, Amina; Steel, Karen P; Jagger, Daniel J; Forge, Andrew; Berger, Wolfgang; Sowden, Jane C; Bitner-Glindzicz, Maria

Evoked Potential Recordings of Auditory Brainstem Activity in the Mouse: An Optimized Method for the Assessment of Hearing Function of Mice

小鼠听觉脑干活动的诱发电位记录:一种评估小鼠听觉功能的优化方法

Ingham, Neil J

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

一项大规模听力损失筛查揭示了听觉功能障碍方面广泛且尚未被探索的遗传图谱。

Bowl, Michael R; Simon, Michelle M; Ingham, Neil J; Greenaway, Simon; Santos, Luis; Cater, Heather; Taylor, Sarah; Mason, Jeremy; Kurbatova, Natalja; Pearson, Selina; Bower, Lynette R; Clary, Dave A; Meziane, Hamid; Reilly, Patrick; Minowa, Osamu; Kelsey, Lois; Tocchini-Valentini, Glauco P; Gao, Xiang; Bradley, Allan; Skarnes, William C; Moore, Mark; Beaudet, Arthur L; Justice, Monica J; Seavitt, John; Dickinson, Mary E; Wurst, Wolfgang; de Angelis, Martin Hrabe; Herault, Yann; Wakana, Shigeharu; Nutter, Lauryl M J; Flenniken, Ann M; McKerlie, Colin; Murray, Stephen A; Svenson, Karen L; Braun, Robert E; West, David B; Lloyd, K C Kent; Adams, David J; White, Jacqui; Karp, Natasha; Flicek, Paul; Smedley, Damian; Meehan, Terrence F; Parkinson, Helen E; Teboul, Lydia M; Wells, Sara; Steel, Karen P; Mallon, Ann-Marie; Brown, Steve D M

Enhancement of forward suppression begins in the ventral cochlear nucleus

前向抑制的增强始于耳蜗腹核

Ingham, Neil J; Itatani, Naoya; Bleeck, Stefan; Winter, Ian M

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

ILDR1基因敲除小鼠是人类耳聋DFNB42的模型,其三细胞紧密连接的结构异常以及听觉毛细胞的退化是其特征。

Morozko, Eva L; Nishio, Ayako; Ingham, Neil J; Chandra, Rashmi; Fitzgerald, Tracy; Martelletti, Elisa; Borck, Guntram; Wilson, Elizabeth; Riordan, Gavin P; Wangemann, Philine; Forge, Andrew; Steel, Karen P; Liddle, Rodger A; Friedman, Thomas B; Belyantseva, Inna A

Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene

Slc25a21 的靶向作用与口面部缺陷和中耳炎相关,这是由于邻近基因的表达受到干扰所致。

Maguire, Simon; Estabel, Jeanne; Ingham, Neil; Pearson, Selina; Ryder, Edward; Carragher, Damian M; Walker, Nicolas; Bussell, James; Chan, Wai-In; Keane, Thomas M; Adams, David J; Scudamore, Cheryl L; Lelliott, Christopher J; Ramírez-Solis, Ramiro; Karp, Natasha A; Steel, Karen P; White, Jacqueline K; Gerdin, Anna-Karin

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes

全基因组构建和基因敲除小鼠的系统表型分析揭示了许多基因的新功能

White, Jacqueline K; Gerdin, Anna-Karin; Karp, Natasha A; Ryder, Ed; Buljan, Marija; Bussell, James N; Salisbury, Jennifer; Clare, Simon; Ingham, Neil J; Podrini, Christine; Houghton, Richard; Estabel, Jeanne; Bottomley, Joanna R; Melvin, David G; Sunter, David; Adams, Niels C; Tannahill, David; Logan, Darren W; Macarthur, Daniel G; Flint, Jonathan; Mahajan, Vinit B; Tsang, Stephen H; Smyth, Ian; Watt, Fiona M; Skarnes, William C; Dougan, Gordon; Adams, David J; Ramirez-Solis, Ramiro; Bradley, Allan; Steel, Karen P