Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
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DOI：
10.1002/acn3.51335
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发表时间：
2021-04
影响因子：
5.3
通讯作者：
Zech M
中科院分区：
文献类型：
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作者：
Dzinovic I;Škorvánek M;Pavelekova P;Zhao C;Keren B;Whalen S;Bakhtiari S;Chih Jin S;Kruer MC;Jech R;Winkelmann J;Zech M
遗传在脑瘫病因中的作用已成为许多研究的焦点，旨在揭示这种常见神经发育障碍背后的异质性病因。最近的一篇论文报道了两名无血缘关系的临床诊断为脑瘫的儿童，他们在FBXO31中携带相同的新生c.1000G > A （p.Asp334Asn）变异，该变异编码一种被广泛研究的肿瘤抑制基因，此前未涉及单基因疾病。我们现在确定了第三个具有复发性FBXO31新生错义变体的个体，具有痉挛-张力障碍表型。我们的数据证实了FBXO31变体与常染色体显性神经发育障碍之间的联系，其特征是明显的运动功能障碍。
The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same de novo c.1000G > A (p.Asp334Asn) variant in FBXO31, encoding a widely studied tumor suppressor not previously implicated in monogenic disease. We now identified a third individual with the recurrent FBXO31 de novo missense variant, featuring a spastic‐dystonic phenotype. Our data confirm a link between variant FBXO31 and an autosomal dominant neurodevelopmental disorder characterized by prominent motor dysfunction.
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影响因子：
3.7
作者：
Vadhvani M;Schwedhelm-Domeyer N;Mukherjee C;Stegmüller J
通讯作者：
Stegmüller J
F-box唯一蛋白31在癌症中的作用
影响因子：
2.9
作者：
Tan Y;Liu D;Gong J;Liu J;Huo J
通讯作者：
Huo J
影响因子：
30.8
作者：
Jin, Sheng Chih;Lewis, Sara A.;Bakhtiari, Somayeh;Zeng, Xue;Sierant, Michael C.;Shetty, Sheetal;Nordlie, Sandra M.;Elie, Aureliane;Corbett, Mark A.;Norton, Bethany Y.;van Eyk, Clare L.;Haider, Shozeb;Guida, Brandon S.;Magee, Helen;Liu, James;Pastore, Stephen;Vincent, John B.;Brunstrom-Hernandez, Janice;Papavasileiou, Antigone;Fahey, Michael C.;Berry, Jesia G.;Harper, Kelly;Zhou, Chongchen;Zhang, Junhui;Li, Boyang;Heim, Jennifer;Webber, Dani L.;Frank, Mahalia S. B.;Xia, Lei;Xu, Yiran;Zhu, Dengna;Zhang, Bohao;Sheth, Amar H.;Knight, James R.;Castaldi, Christopher;Tikhonova, Irina R.;Lopez-Giraldez, Francesc;Keren, Boris;Whalen, Sandra;Buratti, Julien;Doummar, Diane;Cho, Megan;Retterer, Kyle;Millan, Francisca;Wang, Yangong;Waugh, Jeff L.;Rodan, Lance;Cohen, Julie S.;Fatemi, Ali;Lin, Angela E.;Phillips, John P.;Feyma, Timothy;MacLennan, Suzanna C.;Vaughan, Spencer;Crompton, Kylie E.;Reid, Susan M.;Reddihough, Dinah S.;Shang, Qing;Gao, Chao;Novak, Iona;Badawi, Nadia;Wilson, Yana A.;McIntyre, Sarah J.;Mane, Shrikant M.;Wang, Xiaoyang;Amor, David J.;Zarnescu, Daniela C.;Lu, Qiongshi;Xing, Qinghe;Zhu, Changlian;Bilguvar, Kaya;Padilla-Lopez, Sergio;Lifton, Richard P.;Gecz, Jozef;MacLennan, Alastair H.;Kruer, Michael C.
通讯作者：
Kruer, Michael C.
影响因子：
9.8
作者：
Gregor, Anne;Sadleir, Lynette G.;Zweier, Christiane
通讯作者：
Zweier, Christiane
DOI：
10.1038/nrd4432
发表时间：
2014-12
期刊：
Nature reviews. Drug discovery
影响因子：
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作者：
通讯作者：
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