Zobrazeno 1 - 10
of 5 353
pro vyhledávání: '"Kosaki A"'
Autor:
Takahiro Hiraide, Noboru Tsuda, Mizuki Momoi, Yoshiki Shinya, Motoaki Sano, Keiichi Fukuda, Junji Shibahara, Junko Kuramoto, Yae Kanai, Kenjiro Kosaki, Yoji Hakamata, Masaharu Kataoka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Genetic backgrounds of patients with pulmonary arterial hypertension (PAH) were not fully investigated. A variant of c.14429G > A (p.Arg4810Lys) in the ring finger protein 213 gene (RNF213) was recently identified as a risk allele for poor t
Externí odkaz:
https://doaj.org/article/ad7f50c29ca34606974bcae82e0c24b5
Autor:
Masanori Kaji, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Haraguchi Hashiguchi, Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Taiki Nozaki, Takeshi Ouchi, Atsutoshi Tsuji, Kenjiro Kosaki, Naoki Hasegawa, Koichi Fukunaga
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions. While cutis laxa has been linked to cond
Externí odkaz:
https://doaj.org/article/ddb832572c05408181be5c6497c92ff3
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Autor:
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious varian
Externí odkaz:
https://doaj.org/article/6b5bfe603f204369b891655890db9f4d
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Yoshihiko Kosaki, Daisuke Nishizawa, Junko Hasegawa, Kaori Yoshida, Kazutaka Ikeda, Tatsuya Ichinohe
Publikováno v:
Molecular Brain, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Midazolam is widely used for intravenous sedation. However, wide interindividual variability is seen in the sensitivity to midazolam. The association between genetic factors and interindividual differences in midazolam sensitivity remains un
Externí odkaz:
https://doaj.org/article/8349feeda5734ba28d8dbb6031cb3555
Autor:
Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Miya
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions. Structural variants (SVs) have been reported in patients with ERCC8-r
Externí odkaz:
https://doaj.org/article/7b39d56800b6443c911a4141bad876ea
Autor:
Nakato, Daisuke, Yasue, Yuri, Matsubara, Kohei, Suzuki, Hisato, Kosaki, Rika, Takenouchi, Toshiki, Yamada, Mamiko, Miya, Fuyuki, Takano-Shimizu, Toshiyuki, Kosaki, Kenjiro
Publikováno v:
In European Journal of Medical Genetics December 2024 72
Autor:
Takashi Shoji, Ichiro Yamauchi, Hidenori Kawasaki, Kogoro Iwanaga, Takuro Hakata, Daisuke Tanaka, Junji Fujikura, Toshihiko Masui, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Yosuke Kasai, Etsuro Hatano, Akira Inaba, Takahito Wada, Shinji Kosugi, Yohei Ueda, Toshihito Fujii, Daisuke Taura, Nobuya Inagaki
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-
Externí odkaz:
https://doaj.org/article/566307c80b1c494997f2f8310beebcf7
Autor:
Mizuki Momoi, Yoshinori Katsumata, Hiroyoshi Kunimoto, Takumi Inami, Fuyuki Miya, Atsushi Anzai, Shinichi Goto, Ayaka Miura, Yoshiki Shinya, Takahiro Hiraide, Kohsuke Shirakawa, Jin Endo, Keiichi Fukuda, Masaki Ieda, Kenjiro Kosaki, Hideaki Nakajima, Masaharu Kataoka
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 23 (2024)
Background The cause of chronic thromboembolic pulmonary hypertension (CTEPH) remains largely unknown. Recently, clonal hematopoiesis (CH) has been reported to be associated with cardiovascular and thromboembolic diseases. Here, we investigated the p
Externí odkaz:
https://doaj.org/article/39cdb14dc4f94e9493d54b42379e5169
Autor:
Koji Saito, MD, Minoru Fujimoto, MD, PhD, Eiji Funajima, MSc, Satoshi Serada, PhD, Tomoharu Ohkawara, MD, Masayuki Ishihara, MD, PhD, Mamiko Yamada, MD, PhD, Hisato Suzuki, MD, PhD, Fuyuki Miya, PhD, Kenjiro Kosaki, MD, PhD, Mikiya Fujieda, MD, PhD, Tetsuji Naka, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 4, Pp 100312- (2024)
Background: In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 (STAT3) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generat
Externí odkaz:
https://doaj.org/article/2833f02a68d14eeb94d66e5de4e7ed64