Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst
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{"title"=>"Identification of HOXD4 mutations in spinal extradural arachnoid cyst", "type"=>"journal", "authors"=>[{"first_name"=>"Yoji", "last_name"=>"Ogura", "scopus_author_id"=>"55370527800"}, {"first_name"=>"Noriko", "last_name"=>"Miyake", "scopus_author_id"=>"7004944211"}, {"first_name"=>"Ikuyo", "last_name"=>"Kou", "scopus_author_id"=>"22985136000"}, {"first_name"=>"Aritoshi", "last_name"=>"Iida", "scopus_author_id"=>"7103375005"}, {"first_name"=>"Masahiro", "last_name"=>"Nakajima", "scopus_author_id"=>"35240572400"}, {"first_name"=>"Kazuki", "last_name"=>"Takeda", "scopus_author_id"=>"56727238400"}, {"first_name"=>"Shunsuke", "last_name"=>"Fujibayashi", "scopus_author_id"=>"7006589025"}, {"first_name"=>"Masaaki", "last_name"=>"Shiina", "scopus_author_id"=>"36444336800"}, {"first_name"=>"Eijiro", "last_name"=>"Okada", "scopus_author_id"=>"26658539800"}, {"first_name"=>"Yoshiaki", "last_name"=>"Toyama", "scopus_author_id"=>"7102629229"}, {"first_name"=>"Akio", "last_name"=>"Iwanami", "scopus_author_id"=>"9236748700"}, {"first_name"=>"Ken", "last_name"=>"Ishii", "scopus_author_id"=>"55512829500"}, {"first_name"=>"Kazuhiro", "last_name"=>"Ogata", "scopus_author_id"=>"7201445042"}, {"first_name"=>"Hiroshi", "last_name"=>"Asahara", "scopus_author_id"=>"7004714765"}, {"first_name"=>"Naomichi", "last_name"=>"Matsumoto", "scopus_author_id"=>"55655167400"}, {"first_name"=>"Masaya", "last_name"=>"Nakamura", "scopus_author_id"=>"7405346352"}, {"first_name"=>"Morio", "last_name"=>"Matsumoto", "scopus_author_id"=>"35429991100"}, {"first_name"=>"Shiro", "last_name"=>"Ikegawa", "scopus_author_id"=>"7102780383"}], "year"=>2015, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0142126", "pui"=>"607426672", "issn"=>"19326203", "sgr"=>"84952685389", "scopus"=>"2-s2.0-84952685389"}, "id"=>"e11a2139-62ef-34a9-ab17-35e1687ec14d", "abstract"=>"Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater and leads to neurological disturbances. We previously showed that familial SEDAC is caused by FOXC2 mutation; however, the causal gene of sporadic SEDAC has not been identified. To identify the causal gene of sporadic SEDAC, we performed whole exome sequencing for 12 subjects with sporadic SEDAC and identified heterozygous HOXD4 loss-of-function mutations in three subjects. HOXD4 haplo-insufficiency causes SEDAC and a transcriptional network containing HOXD4 and FOXC2 is involved in the development of the dura mater and the etiology of SEDAC.", "link"=>"http://www.mendeley.com/research/identification-hoxd4-mutations-spinal-extradural-arachnoid-cyst", "reader_count"=>4, "reader_count_by_academic_status"=>{"Researcher"=>1, "Student > Bachelor"=>1, "Lecturer"=>1, "Unspecified"=>1}, "reader_count_by_user_role"=>{"Researcher"=>1, "Student > Bachelor"=>1, "Lecturer"=>1, "Unspecified"=>1}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>1, "Agricultural and Biological Sciences"=>1, "Medicine and Dentistry"=>1, "Unspecified"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2416683", "https://ndownloader.figshare.com/files/2416684", "https://ndownloader.figshare.com/files/2416685"], "description"=>"<div><p>Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater and leads to neurological disturbances. We previously showed that familial SEDAC is caused by <i>FOXC2</i> mutation; however, the causal gene of sporadic SEDAC has not been identified. To identify the causal gene of sporadic SEDAC, we performed whole exome sequencing for 12 subjects with sporadic SEDAC and identified heterozygous <i>HOXD4</i> loss-of-function mutations in three subjects. <i>HOXD4</i> haplo-insufficiency causes SEDAC and a transcriptional network containing <i>HOXD4</i> and <i>FOXC2</i> is involved in the development of the dura mater and the etiology of SEDAC.</p></div>", "links"=>[], "tags"=>["Spinal Extradural Arachnoid Cyst Spinal extradural arachnoid cyst", "HOXD 4 Mutations", "dura mater", "SEDAC", "FOXC 2 mutation"], "article_id"=>1596912, "categories"=>["Biological Sciences"], "users"=>["Yoji Ogura", "Noriko Miyake", "Ikuyo Kou", "Aritoshi Iida", "Masahiro Nakajima", "Kazuki Takeda", "Shunsuke Fujibayashi", "Masaaki Shiina", "Eijiro Okada", "Yoshiaki Toyama", "Akio Iwanami", "Ken Ishii", "Kazuhiro Ogata", "Hiroshi Asahara", "Naomichi Matsumoto", "Masaya Nakamura", "Morio Matsumoto", "Shiro Ikegawa"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0142126.s001", "https://dx.doi.org/10.1371/journal.pone.0142126.s002", "https://dx.doi.org/10.1371/journal.pone.0142126.s003"], "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Identification_of_HOXD4_Mutations_in_Spinal_Extradural_Arachnoid_Cyst/1596912", "title"=>"Identification of <i>HOXD4</i> Mutations in Spinal Extradural Arachnoid Cyst", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-11-06 04:25:32"}
  • {"files"=>["https://ndownloader.figshare.com/files/2416679"], "description"=>"<p>T1- (A) and T2- (B) weighted sagittal plane images of MRI scan. Subject P5. There is a single cyst (asterisk marks) dorsal to the spinal cord at the thoracolumbar spine.</p>", "links"=>[], "tags"=>["Spinal Extradural Arachnoid Cyst Spinal extradural arachnoid cyst", "HOXD 4 Mutations", "dura mater", "SEDAC", "FOXC 2 mutation"], "article_id"=>1596909, "categories"=>["Biological Sciences"], "users"=>["Yoji Ogura", "Noriko Miyake", "Ikuyo Kou", "Aritoshi Iida", "Masahiro Nakajima", "Kazuki Takeda", "Shunsuke Fujibayashi", "Masaaki Shiina", "Eijiro Okada", "Yoshiaki Toyama", "Akio Iwanami", "Ken Ishii", "Kazuhiro Ogata", "Hiroshi Asahara", "Naomichi Matsumoto", "Masaya Nakamura", "Morio Matsumoto", "Shiro Ikegawa"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142126.g001", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Spinal_extradural_arachnoid_cyst_/1596909", "title"=>"Spinal extradural arachnoid cyst.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 04:25:32"}
  • {"files"=>["https://ndownloader.figshare.com/files/2416680"], "description"=>"<p>(A) DNA sequence. A heterozygous insertion (c.633_634insA) in P5 and a heterozygous deletion (c.680_691) in P6 and P9. Upper and lower sequences represent mutation and normal (reference) sequences, respectively. The double-headed arrow indicates the deletion. (B) Genomic (upper column) and protein (lower column) structures of <i>HOXD4</i> and positions of mutations identified in spinal extradural arachnoid cyst (blue letters) and acute lymphoid leukemia (black letters). Exons and homeodomain are black- and yellow-colored, respectively. (C) Western blot analysis. Lysates of transfected HeLa cells were resolved by SDS-PAGE and detected by immunoblot for the N-terminal FLAG epitope. The mutant proteins showed expected size bands. D) Dual luciferase assay. Luciferase activities of WT and mutant vectors. The activities of D212Rfs*3 and S227_S230del HOXD4 were significantly decreased compared to that of WT HOXD4. (–): empty vector, thick bar: mean value, error bar: SD, asterisk: p value < 0.01 (t-test).</p>", "links"=>[], "tags"=>["Spinal Extradural Arachnoid Cyst Spinal extradural arachnoid cyst", "HOXD 4 Mutations", "dura mater", "SEDAC", "FOXC 2 mutation"], "article_id"=>1596910, "categories"=>["Biological Sciences"], "users"=>["Yoji Ogura", "Noriko Miyake", "Ikuyo Kou", "Aritoshi Iida", "Masahiro Nakajima", "Kazuki Takeda", "Shunsuke Fujibayashi", "Masaaki Shiina", "Eijiro Okada", "Yoshiaki Toyama", "Akio Iwanami", "Ken Ishii", "Kazuhiro Ogata", "Hiroshi Asahara", "Naomichi Matsumoto", "Masaya Nakamura", "Morio Matsumoto", "Shiro Ikegawa"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142126.g002", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_HOXD4_mutations_in_spinal_extradural_arachnoid_cyst_/1596910", "title"=>"<i>HOXD4</i> mutations in spinal extradural arachnoid cyst.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 04:25:32"}
  • {"files"=>["https://ndownloader.figshare.com/files/2416681"], "description"=>"<p><sup>a</sup>Subjects harboring <i>HOXD4</i> mutations are in bold.</p><p><sup>b</sup>Distichiasis, lymphedema and skeletal anomalies.</p><p>Clinical data of spinal extradural arachnoid cyst subjects.</p>", "links"=>[], "tags"=>["Spinal Extradural Arachnoid Cyst Spinal extradural arachnoid cyst", "HOXD 4 Mutations", "dura mater", "SEDAC", "FOXC 2 mutation"], "article_id"=>1596911, "categories"=>["Biological Sciences"], "users"=>["Yoji Ogura", "Noriko Miyake", "Ikuyo Kou", "Aritoshi Iida", "Masahiro Nakajima", "Kazuki Takeda", "Shunsuke Fujibayashi", "Masaaki Shiina", "Eijiro Okada", "Yoshiaki Toyama", "Akio Iwanami", "Ken Ishii", "Kazuhiro Ogata", "Hiroshi Asahara", "Naomichi Matsumoto", "Masaya Nakamura", "Morio Matsumoto", "Shiro Ikegawa"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142126.t001", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Clinical_data_of_spinal_extradural_arachnoid_cyst_subjects_/1596911", "title"=>"Clinical data of spinal extradural arachnoid cyst subjects.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:25:32"}

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Relative Metric

{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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