Literature DB >> 34110594

A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures.

Li Shu1,2,3, Yuchen Xu4, Qi Tian1, Yuanyuan Chen5, Yaqin Wang6, Hui Xi1, Hua Wang1,2, Neng Xiao7, Xiao Mao8,9.   

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Year:  2021        PMID： 34110594      PMCID： PMC8423932          DOI： 10.1007/s12264-021-00717-5

Source DB:  PubMed          Journal:  Neurosci Bull        ISSN： 1995-8218            Impact factor:   5.271


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  10 in total

1.  Human semaphorin 6B [(HSA)SEMA6B], a novel human class 6 semaphorin gene: alternative splicing and all-trans-retinoic acid-dependent downregulation in glioblastoma cell lines.

Authors:  R G Correa; R M Sasahara; M H Bengtson; M L Katayama; A C Salim; M M Brentani; M C Sogayar; S J de Souza; A J Simpson
Journal:  Genomics       Date:  2001-05-01       Impact factor: 5.736

2.  Plexin-a4 mediates axon-repulsive activities of both secreted and transmembrane semaphorins and plays roles in nerve fiber guidance.

Authors:  Fumikazu Suto; Keisuke Ito; Masato Uemura; Masayuki Shimizu; Yutaka Shinkawa; Makoto Sanbo; Tomoyasu Shinoda; Miu Tsuboi; Seiji Takashima; Takeshi Yagi; Hajime Fujisawa
Journal:  J Neurosci       Date:  2005-04-06       Impact factor: 6.167

3.  De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

Authors:  Kohei Hamanaka; Eri Imagawa; Eriko Koshimizu; Satoko Miyatake; Jun Tohyama; Takanori Yamagata; Akihiko Miyauchi; Nina Ekhilevitch; Fumio Nakamura; Takeshi Kawashima; Yoshio Goshima; Ahmad Rithauddin Mohamed; Gaik-Siew Ch'ng; Atsushi Fujita; Yoshiteru Azuma; Ken Yasuda; Shintaro Imamura; Mitsuko Nakashima; Hirotomo Saitsu; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2020-03-12       Impact factor: 11.025

4.  Analysis of SEMA6B gene expression in breast cancer: identification of a new isoform.

Authors:  Luciana D'Apice; Valerio Costa; Carmen Valente; Maria Trovato; Anna Pagani; Stefania Manera; Lea Regolo; Alberto Zambelli; Alfredo Ciccodicola; Piergiuseppe De Berardinis
Journal:  Biochim Biophys Acta       Date:  2013-05-09

5.  Neuronal expression of class 6 semaphorins in zebrafish.

Authors:  A M Ebert; R E Lamont; S J Childs; S McFarlane
Journal:  Gene Expr Patterns       Date:  2012-02-06       Impact factor: 1.224

6.  Roles of semaphorin-6B and plexin-A2 in lamina-restricted projection of hippocampal mossy fibers.

Authors:  Hiroshi Tawarayama; Yutaka Yoshida; Fumikazu Suto; Kevin J Mitchell; Hajime Fujisawa
Journal:  J Neurosci       Date:  2010-05-19       Impact factor: 6.167

7.  Aberrant expression of semaphorin 6B affects cell phenotypes in thyroid carcinoma by activating the Notch signalling pathway.

Authors:  Xiu-Juan Lv; Xin Chen; Yan Wang; Shan Yu; Lin Pang; Chao Huang
Journal:  Endokrynol Pol       Date:  2020-10-30       Impact factor: 1.582

8.  Semaphorin 6B acts as a receptor in post-crossing commissural axon guidance.

Authors:  Irwin Andermatt; Nicole H Wilson; Timothy Bergmann; Olivier Mauti; Matthias Gesemann; Shanthini Sockanathan; Esther T Stoeckli
Journal:  Development       Date:  2014-09-10       Impact factor: 6.868

9.  The role of axon guidance factor semaphorin 6B in the invasion and metastasis of gastric cancer.

Authors:  Changqing Ge; Quanfu Li; Lipu Wang; Xu Xu
Journal:  J Int Med Res       Date:  2013-04       Impact factor: 1.671

10.  Sema6B, Sema6C, and Sema6D expression and function during mammalian retinal development.

Authors:  Ryota L Matsuoka; Lu O Sun; Kei-ichi Katayama; Yutaka Yoshida; Alex L Kolodkin
Journal:  PLoS One       Date:  2013-04-30       Impact factor: 3.240
  10 in total
  1 in total

1.  Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.

Authors:  Jing Duan; Yan Chen; Zhanqi Hu; Yuanzhen Ye; Tian Zhang; Cong Li; Qi Zeng; Xia Zhao; Jiahui Mai; Yang Sun; Chao Liu; Wenxin Zheng; Yuhan Xiao; Jianxiang Liao; Li Chen
Journal:  Front Pediatr       Date:  2022-04-28       Impact factor: 3.569
  1 in total

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