Zobrazeno 1 - 10 of 176 pro vyhledávání: '"Atsushi, Hatamochi"'
1
Ehlers–Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database
Autor: Kosuke Shido, Kenshi Yamasaki, Atsushi Hatamochi, Saaya Yoshida-Akai, Kaname Kojima, Katsuko Kikuchi, Setsuya Aiba
Publikováno v: The Journal of Dermatology. 48:1918-1922
A novel COL3A1 variant was identified in a Japanese case of Ehlers-Danlos syndrome type IV (EDS-IV) with a characteristic "Madonna" face, fragile uterus, and easy bruising in addition to a history of cavernous sinus fistula. We confirmed variable dia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4c9575747e2a5651aa8a27c44e17a3
https://doi.org/10.1111/1346-8138.16131
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3
The ceramide [NP]/[NS] ratio in the stratum corneum is a potential marker for skin properties and epidermal differentiation
Autor: Ayano Naoe, Urara Yokose, Yuki Morokuma, Hisashi Tsujimura, Tsutomu Fujimura, Yosuke Inoue, Takatoshi Murase, Yuka Yasuda, Junko Ishikawa, Atsushi Hatamochi
Publikováno v: BMC Dermatology
BMC Dermatology, Vol 20, Iss 1, Pp 1-12 (2020)
Background Specific species of ceramides (Cer), major constituents of lipids in the stratum corneum (SC), are decreased and are correlated with SC barrier and water-holding functions in the skin of patients with atopic dermatitis (AD) or psoriasis (P
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9776a7d09f1df30af32a324057189d16
http://europepmc.org/articles/PMC7461267
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4
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing
Autor: Masahiko Kurabayashi, Kenji Okada, Tomomi Yamaguchi, Rie Kawamura, Norimichi Koitabashi, Ryuichi Funada, Masumi Ishikawa, Kazuyoshi Toda, Atsushi Hatamochi, Tomoki Kosho, Takahide Nakano, Daisuke Fukui, Atsushi Umeyama
Publikováno v: International Heart Journal. 59:1180-1185
Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c1db7faaf4c39e51a6a85762739d217
https://doi.org/10.1536/ihj.17-451
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8
Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14
Autor: Naoki Takahashi, Shuhei Yamada, Prasarn Tangkawattana, Takuya Hirose, Noriko Miyake, Ayana Hashimoto, Atsushi Hatamochi, Yoshihiro Nomura, Tomoki Kosho, Jun Minaguchi, Shujiro Hayashi, Kazushige Takehana, Tomomi Yamaguchi, Takafumi Watanabe, Shuji Mizumoto, Jun Nakayama
Publikováno v: Biochimica et biophysica acta. General subjects. 1863(3)
Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). C
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ae967ffc32ade64e95155a5fa20e81e
https://pubmed.ncbi.nlm.nih.gov/30553867
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