Literature DB >> 24371184

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease.

Wanyang Liu1, S T M L D Senevirathna, Toshiaki Hitomi, Hatasu Kobayashi, Constantin Roder, Roman Herzig, Markus Kraemer, Maurits H J Voormolen, Pavlína Cahová, Boris Krischek, Akio Koizumi.   

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Year:  2013        PMID： 24371184     DOI： 10.1007/s12041-013-0304-5

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  12 in total

1.  Worldwide distribution of moyamoya disease.

Authors:  Y Goto; Y Yonekawa
Journal:  Neurol Med Chir (Tokyo)       Date:  1992-11       Impact factor: 1.742

Review 2.  Moyamoya disease: current concepts and future perspectives.

Authors:  Satoshi Kuroda; Kiyohiro Houkin
Journal:  Lancet Neurol       Date:  2008-11       Impact factor: 44.182

3.  ACTA2 is not a major disease-causing gene for moyamoya disease.

Authors:  Keiko Shimojima; Toshiyuki Yamamoto
Journal:  J Hum Genet       Date:  2009-09-11       Impact factor: 3.172

4.  A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians.

Authors:  Wanyang Liu; Hirokuni Hashikata; Kayoko Inoue; Norio Matsuura; Yohei Mineharu; Hatasu Kobayashi; Ken-Ichiro Kikuta; Yasushi Takagi; Toshiaki Hitomi; Boris Krischek; Li-Ping Zou; Fang Fang; Roman Herzig; Jeong-Eun Kim; Hyun-Seung Kang; Chang-Wan Oh; David-Alexandre Tregouet; Nobuo Hashimoto; Akio Koizumi
Journal:  Environ Health Prev Med       Date:  2009-11-19       Impact factor: 3.674

5.  Cerebrovascular "moyamoya" disease. Disease showing abnormal net-like vessels in base of brain.

Authors:  J Suzuki; A Takaku
Journal:  Arch Neurol       Date:  1969-03

6.  Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.

Authors:  Wanyang Liu; Toshiaki Hitomi; Hatasu Kobayashi; Kouji H Harada; Akio Koizumi
Journal:  Neurol Med Chir (Tokyo)       Date:  2012       Impact factor: 1.742

7.  Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin.

Authors:  Mitsunori Fukuda; Taruho S Kuroda
Journal:  J Biol Chem       Date:  2002-09-07       Impact factor: 5.157

8.  Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

Authors:  Dong-Chuan Guo; Christina L Papke; Van Tran-Fadulu; Ellen S Regalado; Nili Avidan; Ralph Jay Johnson; Dong H Kim; Hariyadarshi Pannu; Marcia C Willing; Elizabeth Sparks; Reed E Pyeritz; Michael N Singh; Ronald L Dalman; James C Grotta; Ali J Marian; Eric A Boerwinkle; Lorraine Q Frazier; Scott A LeMaire; Joseph S Coselli; Anthony L Estrera; Hazim J Safi; Sudha Veeraraghavan; Donna M Muzny; David A Wheeler; James T Willerson; Robert K Yu; Sanjay S Shete; Steven E Scherer; C S Raman; L Maximilian Buja; Dianna M Milewicz
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025

9.  Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

Authors:  Wanyang Liu; Daisuke Morito; Seiji Takashima; Yohei Mineharu; Hatasu Kobayashi; Toshiaki Hitomi; Hirokuni Hashikata; Norio Matsuura; Satoru Yamazaki; Atsushi Toyoda; Ken-ichiro Kikuta; Yasushi Takagi; Kouji H Harada; Asao Fujiyama; Roman Herzig; Boris Krischek; Liping Zou; Jeong Eun Kim; Masafumi Kitakaze; Susumu Miyamoto; Kazuhiro Nagata; Nobuo Hashimoto; Akio Koizumi
Journal:  PLoS One       Date:  2011-07-20       Impact factor: 3.240

10.  Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.

Authors:  Zhiyuan Wu; Hanqiang Jiang; Lei Zhang; Xiao Xu; Xinju Zhang; Zhihua Kang; Donglei Song; Jin Zhang; Ming Guan; Yuxiang Gu
Journal:  PLoS One       Date:  2012-10-23       Impact factor: 3.240
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  16 in total

1.  Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Authors:  Stéphanie Guey; Markus Kraemer; Dominique Hervé; Thomas Ludwig; Manoëlle Kossorotoff; Françoise Bergametti; Jan Claudius Schwitalla; Simone Choi; Lucile Broseus; Isabelle Callebaut; Emmanuelle Genin; Elisabeth Tournier-Lasserve
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

2.  Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.

Authors:  Jeffrie Hadisurya; Stephanie Guey; Lou Grangeon; Dagmar Wieczorek; Michaelle Corpechot; Jan Claudius Schwitalla; Markus Kraemer
Journal:  Childs Nerv Syst       Date:  2019-04-29       Impact factor: 1.475

3.  Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients.

Authors:  Markus Kraemer; Jan Claudius Schwitalla; Frank Diesner; Orhan Aktas; Hans-Peter Hartung; Peter Berlit
Journal:  J Neurol       Date:  2019-03-13       Impact factor: 4.849

Review 4.  Moyamoya syndrome as a manifestation of varicella-associated cerebral vasculopathy-case report and review of literature.

Authors:  Shishir Kumar; Shibu V Pillai
Journal:  Childs Nerv Syst       Date:  2019-02-25       Impact factor: 1.532

Review 5.  Single Nucleotide Polymorphism in Patients with Moyamoya Disease.

Authors:  Young Seok Park
Journal:  J Korean Neurosurg Soc       Date:  2015-06-30

Review 6.  Moyamoya disease and syndromes: from genetics to clinical management.

Authors:  Stéphanie Guey; Elisabeth Tournier-Lasserve; Dominique Hervé; Manoelle Kossorotoff
Journal:  Appl Clin Genet       Date:  2015-02-16

7.  The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.

Authors:  Young Seok Park; Hui Jeong An; Jung Oh Kim; Won Seop Kim; In Bo Han; Ok Joon Kim; Nam Keun Kim; Dong-Seok Kim
Journal:  Int J Mol Sci       Date:  2017-11-21       Impact factor: 5.923

Review 8.  Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.

Authors:  Xin Liao; Jing Deng; Wenjie Dai; Tong Zhang; Junxia Yan
Journal:  Environ Health Prev Med       Date:  2017-11-02       Impact factor: 3.674

9.  DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.

Authors:  Adam J Kundishora; Samuel T Peters; Amélie Pinard; Daniel Duran; Shreyas Panchagnula; Tanyeri Barak; Danielle F Miyagishima; Weilai Dong; Hannah Smith; Jack Ocken; Ashley Dunbar; Carol Nelson-Williams; Shozeb Haider; Rebecca L Walker; Boyang Li; Hongyu Zhao; Dean Thumkeo; Arnaud Marlier; Phan Q Duy; Nicholas S Diab; Benjamin C Reeves; Stephanie M Robert; Nanthiya Sujijantarat; Amber N Stratman; Yi-Hsien Chen; Shujuan Zhao; Isabelle Roszko; Qiongshi Lu; Bo Zhang; Shrikant Mane; Christopher Castaldi; Francesc López-Giráldez; James R Knight; Michael J Bamshad; Deborah A Nickerson; Daniel H Geschwind; Shih-Shan Lang Chen; Phillip B Storm; Michael L Diluna; Charles C Matouk; Darren B Orbach; Seth L Alper; Edward R Smith; Richard P Lifton; Murat Gunel; Dianna M Milewicz; Sheng Chih Jin; Kristopher T Kahle
Journal:  JAMA Neurol       Date:  2021-08-01       Impact factor: 29.907

10.  Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.

Authors:  Lorelei D Shoemaker; Michael J Clark; Anil Patwardhan; Gemma Chandratillake; Sarah Garcia; Rong Chen; Alexander A Morgan; Nan Leng; Scott Kirk; Richard Chen; Douglas J Cook; Michael Snyder; Gary K Steinberg
Journal:  G3 (Bethesda)       Date:  2015-11-03       Impact factor: 3.542
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