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The Ehlers–Danlos syndromes
Author / Creator:Malfait, Fransiska ; Castori, Marco ; Francomano, Clair A. ; Giunta, Cecilia ; Kosho, Tomoki ; Byers, Peter H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2020-07, Vol.6 (1), p.64-64, Article 64
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High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterol
Author / Creator:Futatsugi, Akiko ; Tozuka, Minoru ; Horiuchi, Yuna ; Ohkawa, Ryunosuke ; Kosho, Tomoki
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.23323-11, Article 23323
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Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
Author / Creator:Yoshizawa, Takahiro ; Kosho, Tomoki
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (2), p.436
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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
Author / Creator:Hiraide, Takuya ; Shimizu, Kenji ; Miyamoto, Sachiko ; Aoto, Kazushi ; Nakashima, Mitsuko ; Yamaguchi, Tomomi ; Kosho, Tomoki ; Ogata, Tsutomu ; Saitsu, Hirotomo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-07, Vol.67 (7), p.387-392
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Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells
Author / Creator:Yue, Fengming ; Era, Takumi ; Yamaguchi, Tomomi ; Kosho, Tomoki
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (3), p.730
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Author / Creator:Tsurusaki, Yoshinori ; Okamoto, Nobuhiko ; Ohashi, Hirofumi ; Kosho, Tomoki ; Imai, Yoko ; Hibi-Ko, Yumiko ; Kaname, Tadashi ; Naritomi, Kenji ; Kawame, Hiroshi ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Homma, Tomomi ; Kato, Mitsuhiro ; Hiraki, Yoko ; Yamagata, Takanori ; Yano, Shoji ; Mizuno, Seiji ; Sakazume, Satoru ; Ishii, Takuma ; Nagai, Toshiro ; Shiina, Masaaki ; Ogata, Kazuhiro ; Ohta, Tohru ; Niikawa, Norio ; Miyatake, Satoko ; Okada, Ippei ; Mizuguchi, Takeshi ; Doi, Hiroshi ; Saitsu, Hirotomo ; Miyake, Noriko ; Matsumoto, Naomichi
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.376-378
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Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type
Author / Creator:Uehara, Masashi ; Takahashi, Jun ; Kosho, Tomoki
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-05, Vol.14 (6), p.1173
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Frequency and clinical features of hearing loss caused by STRC deletions
Author / Creator:Yokota, Yoh ; Moteki, Hideaki ; Nishio, Shin-ya ; Yamaguchi, Tomomi ; Wakui, Keiko ; Kobayashi, Yumiko ; Ohyama, Kenji ; Miyazaki, Hiromitsu ; Matsuoka, Rina ; Abe, Satoko ; Kumakawa, Kozo ; Takahashi, Masahiro ; Sakaguchi, Hirofumi ; Uehara, Natsumi ; Ishino, Takashi ; Kosho, Tomoki ; Fukushima, Yoshimitsu ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.4408, Article 4408
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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Author / Creator:Hara-Isono, Kaori ; Matsubara, Keiko ; Hamada, Riku ; Shimada, Shun ; Yamaguchi, Tomomi ; Wakui, Keiko ; Miyazaki, Osamu ; Muroya, Koji ; Kurosawa, Kenji ; Fukami, Maki ; Ogata, Tsutomu ; Kosho, Tomoki ; Kagami, Masayo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-11, Vol.66 (11), p.1121-1126
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A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome
Author / Creator:Nakazawa, Hideyuki ; Yamaguchi, Tomomi ; Sakai, Hitoshi ; Maruyama, Masae ; Kawakami, Toru ; Kawakami, Fumihiro ; Nishina, Sayaka ; Ishikawa, Masumi ; Kosho, Tomoki ; Ishida, Fumihiro
Publisher:Singapore: Springer Singapore
Journal title:International journal of hematology, 2021-08, Vol.114 (2), p.286-291
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Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
Author / Creator:Mizumoto, Shuji ; Kosho, Tomoki ; Yamada, Shuhei ; Sugahara, Kazuyuki
Publisher:Switzerland: MDPI AG
Journal title:Pharmaceuticals (Basel, Switzerland), 2017-06, Vol.10 (2), p.34
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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Author / Creator:Takahashi, Yuji ; Date, Hidetoshi ; Oi, Hideki ; Adachi, Takeya ; Imanishi, Noriaki ; Kimura, En ; Takizawa, Hotake ; Kosugi, Shinji ; Matsumoto, Naomichi ; Kosaki, Kenjiro ; Matsubara, Yoichi ; Ando, Yukio ; Anzai, Toshihisa ; Ariga, Tadashi ; Fukushima, Yoshimitsu ; Furusawa, Yoshihiko ; Ganaha, Akira ; Goto, Yuichi ; Hata, Kenichiro ; Honda, Masataka ; Iijima, Kazumoto ; Ikka, Tsunakuni ; Imoto, Issei ; Kaname, Tadashi ; Kobayashi, Masao ; Kojima, Seiji ; Kurahashi, Hiroki ; Kure, Shigeo ; Kurosawa, Kenji ; Maegaki, Yoshihiro ; Makita, Yoshio ; Morio, Tomohiro ; Narita, Ichiei ; Nomura, Fumio ; Ogata, Tsutomu ; Ozono, Keiichi ; Oka, Akira ; Okamoto, Nobuhiko ; Saitoh, Shinji ; Sakurai, Akihiro ; Takada, Fumio ; Takahashi, Tsutomu ; Tamaoka, Akira ; Umezawa, Akihiro ; Yachie, Akihiro ; Yoshiura, Kouichiro ; Chinen, Yasutsugu ; Eguchi, Mariko ; Fujio, Keishi ; Hosoda, Kiminori ; Ichikawa, Tomohiko ; Kawarai, Toshitaka ; Kosho, Tomoki ; Masuno, Mitsuo ; Nakamura, Akie ; Nakane, Takaya ; Ogi, Tomoo ; Okada, Satoshi ; Sakata, Yasushi ; Seto, Toshiyuki ; Takahashi, Yoshiyuki ; Takano, Tadao ; Ueda, Mitsuharu ; Yagasaki, Hideaki ; Yamamoto, Toshiyuki ; Watanabe, Atsushi ; Hotta, Yoshihiro ; Kubo, Akiharu ; Maruyama, Hirofumi ; Moriyama, Keiji ; Nanba, Eiji ; Sakai, Norio ; Sekijima, Yoshiki ; Shimosegawa, Toru ; Takeuchi, Tsutomu ; Usami, Shinichi ; Yamamoto, Kazuhiko ; Mizusawa, Hidehiro
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-09, Vol.67 (9), p.505-513
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Atypical Sotos syndrome caused by a novel splice site variant
Author / Creator:Minatogawa, Mari ; Tsuji, Taichi ; Inaba, Mie ; Kawakami, Noriaki ; Mizuno, Seiji ; Kosho, Tomoki
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2022-11, Vol.9 (1), p.41-41, Article 41
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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
Author / Creator:Tsuchiya, Mio ; Yamada, Takahiro ; Akaishi, Rina ; Hamanoue, Haruka ; Hirasawa, Akira ; Hyodo, Maki ; Imoto, Issei ; Kosho, Tomoki ; Kurosawa, Kenji ; Murakami, Hiromi ; Nakatani, Kaname ; Nomura, Fumio ; Sasaki, Aiko ; Shimizu, Kenji ; Tamai, Mariko ; Umemura, Hiroshi ; Watanabe, Atsushi ; Yoshida, Akiko ; Yoshihashi, Hiroshi ; Yotsumoto, Junko ; Kosugi, Shinji
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-12, Vol.65 (12), p.1045-1053
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A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis
Author / Creator:Masuko, Shinji ; Sato, Mitsuto ; Nakamura, Katsuya ; Hamanaka, Kohei ; Miyatake, Satoko ; Inaba, Yuji ; Kosho, Tomoki ; Matsumoto, Naomichi ; Sekijima, Yoshiki
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-11, Vol.12 (11), p.e70044-n/a
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Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients
Author / Creator:Nitta, Hirohisa ; Unoki, Motoko ; Ichiyanagi, Kenji ; Kosho, Tomoki ; Shigemura, Tomonari ; Takahashi, Hiroshi ; Velasco, Guillaume ; Francastel, Claire ; Picard, Capucine ; Kubota, Takeo ; Sasaki, Hiroyuki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2013-07, Vol.58 (7), p.455-460
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A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing
Author / Creator:Nitahara-Kasahara, Yuko ; Mizumoto, Shuji ; Inoue, Yukiko U. ; Saka, Shota ; Posadas-Herrera, Guillermo ; Nakamura-Takahashi, Aki ; Takahashi, Yuki ; Hashimoto, Ayana ; Konishi, Kohei ; Miyata, Shinji ; Masuda, Chiaki ; Matsumoto, Emi ; Maruoka, Yasunobu ; Yoshizawa, Takahiro ; Tanase, Toshiki ; Inoue, Takayoshi ; Yamada, Shuhei ; Nomura, Yoshihiro ; Takeda, Shin'ichi ; Watanabe, Atsushi ; Kosho, Tomoki ; Okada, Takashi
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2021-12, Vol.14 (12)
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Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
Author / Creator:Genova, Francesca ; Nonnis, Simona ; Maffioli, Elisa ; Tedeschi, Gabriella ; Strillacci, Maria Giuseppina ; Carisetti, Michela ; Sironi, Giuseppe ; Cupaioli, Francesca Anna ; Di Nanni, Noemi ; Mezzelani, Alessandra ; Mosca, Ettore ; Helps, Christopher R. ; Leegwater, Peter A. J. ; Dorso, Laetitia ; Longeri, Maria
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-04, Vol.11 (1), p.8339-8339, Article 8339
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Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome
Author / Creator:Hashimoto, Ayana ; Hirose, Takuya ; Hashimoto, Kohei ; Mizumoto, Shuji ; Nitahara-Kasahara, Yuko ; Saka, Shota ; Yoshizawa, Takahiro ; Okada, Takashi ; Yamada, Shuhei ; Kosho, Tomoki ; Watanabe, Takafumi ; Miyata, Shinji ; Nomura, Yoshihiro
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2), p.308
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Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports
Author / Creator:Muranaka, Futoshi ; Kise, Emiko ; Tokumaru, Shigeo ; Kitazawa, Masato ; Miyagawa, Yusuke ; Suga, Tomoaki ; Uehara, Takeshi ; Iwaya, Mai ; Kobayashi, Shota ; Sato, Midori ; Gomi, Daisuke ; Yamada, Hidetaka ; Sugimura, Haruhiko ; Kosho, Tomoki ; Soejima, Yuji ; Koizumi, Tomonobu
Publisher:New York: Springer US
Journal title:Discover. Oncology, 2023-01, Vol.14 (1), p.14-14, Article 14
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Showing 1 to 20 of 67 results

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The Ehlers–Danlos syndromes

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High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterol

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Mouse Models of Musculocontractural Ehlers-Danlos Syndrome

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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

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Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

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Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type

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Frequency and clinical features of hearing loss caused by STRC deletions

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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

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A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome

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Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

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Atypical Sotos syndrome caused by a novel splice site variant

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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

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A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis

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Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

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A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing

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Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

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Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome

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Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports

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