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

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

TMTC3基因的双等位基因突变（该基因编码一种跨膜蛋白和含TPR结构域的蛋白）会导致鹅卵石样脑回畸形

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.007
Jerber, Julie; Zaki, Maha S; Al-Aama, Jumana Y; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Silhavy, Jennifer L; Caglar, Caner; Musaev, Damir; Albrecht, Beate; Campbell, Kevin P; Willer, Tobias; Almuriekhi, Mariam; Çağlayan, Ahmet Okay; Vajsar, Jiri; Bilgüvar, Kaya; Ogur, Gonul; Abou Jamra, Rami; Günel, Murat; Gleeson, Joseph G
TPR
神经科学
发表日期：2016
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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

GMPPB相关肌营养不良蛋白病：表型相关性的新兴常见变异

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22898
Jensen, Braden S; Willer, Tobias; Saade, Dimah N; Cox, Mary O; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A; Winder, Thomas L; Campbell, Kevin P; Moore, Steven A; Mathews, Katherine D
发表日期：2015
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Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

LARGE 或 LARGE2 的内源性葡萄糖醛酸转移酶活性是细胞和组织中 α-肌营养不良蛋白聚糖功能修饰所必需的

期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1074/jbc.M114.597831
Inamori, Kei-ichiro; Willer, Tobias; Hara, Yuji; Venzke, David; Anderson, Mary E; Clarke, Nigel F; Guicheney, Pascale; Bönnemann, Carsten G; Moore, Steven A; Campbell, Kevin P
细胞生物学
发表日期：2014
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

GDP-甘露糖焦磷酸化酶B的突变会导致先天性和肢带型肌营养不良症，并伴有α-肌营养不良蛋白聚糖的糖基化不足。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.05.009
Carss, Keren J; Stevens, Elizabeth; Foley, A Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van Scherpenzeel, Monique; Moore, Steven A; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten G; Abdenur, Jose E; Grosmann, Carla M; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh B; Young, Helen K; Wraige, Elizabeth; Yau, Shu; Brodd, Lina; Feng, Lucy; Sewry, Caroline; MacArthur, Daniel G; North, Kathryn N; Hoffman, Eric; Stemple, Derek L; Hurles, Matthew E; van Bokhoven, Hans; Campbell, Kevin P; Lefeber, Dirk J; Lin, Yung-Yao; Muntoni, Francesco
信号转导
磷酸化
发表日期：2013
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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

由DPM1基因突变引起的先天性糖基化障碍，表现为肌营养不良蛋白病型先天性肌营养不良症

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2013.06.016
Yang, Amy C; Ng, Bobby G; Moore, Steven A; Rush, Jeffrey; Waechter, Charles J; Raymond, Kimiyo M; Willer, Tobias; Campbell, Kevin P; Freeze, Hudson H; Mehta, Lakshmi
发表日期：2013
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Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2

LARGE在α-肌营养不良蛋白聚糖修饰中的木糖基转移酶和葡萄糖醛酸转移酶功能在LARGE2中是保守的。

期刊:Glycobiology
影响因子:3.3
doi:10.1093/glycob/cws152
Inamori, Kei-ichiro; Hara, Yuji; Willer, Tobias; Anderson, Mary E; Zhu, Zihan; Yoshida-Moriguchi, Takako; Campbell, Kevin P
发表日期：2013
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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

先天性肌营养不良症1D型（MDC1D）是由LARGE基因第10个内含子中较大的基因内插入/缺失引起的。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.212
Clarke, Nigel F; Maugenre, Svetlana; Vandebrouck, Aurélie; Urtizberea, J Andoni; Willer, Tobias; Peat, Rachel A; Gray, Françoise; Bouchet, Céline; Manya, Hiroshi; Vuillaumier-Barrot, Sandrine; Endo, Tamao; Chouery, Eliane; Campbell, Kevin P; Mégarbané, André; Guicheney, Pascale
MDC1
MDC
发表日期：2011
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Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE

上皮来源癌症中α-肌营养不良蛋白聚糖与层粘连蛋白结合的丧失是由LARGE基因沉默引起的。

期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1074/jbc.C900007200
de Bernabé, Daniel Beltrán-Valero; Inamori, Kei-Ichiro; Yoshida-Moriguchi, Takako; Weydert, Christine J; Harper, Hollie A; Willer, Tobias; Henry, Michael D; Campbell, Kevin P
肿瘤
表观遗传
肿瘤免疫
发表日期：2009
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Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast.

在小鼠中，通过上胚层中肌营养不良蛋白聚糖的缺失，可以重现类似沃克-瓦尔堡综合征的脑和眼畸形

期刊:Journal of Neuroscience
影响因子:4
doi:10.1523/JNEUROSCI.2457-08.2008
Satz Jakob S, Barresi Rita, Durbeej Madeleine, Willer Tobias, Turner Amy, Moore Steven A, Campbell Kevin P
免疫/内分泌
发表日期：2008
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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

小鼠体内Walker-Warburg综合征基因Pomt1的靶向破坏会导致胚胎致死

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.0405899101
Willer, Tobias; Prados, Belén; Falcón-Pérez, Juan Manuel; Renner-Müller, Ingrid; Przemeck, Gerhard K H; Lommel, Mark; Coloma, Antonio; Valero, M Carmen; de Angelis, Martin Hrabé; Tanner, Widmar; Wolf, Eckhard; Strahl, Sabine; Cruces, Jesús
发表日期：2004
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