日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Hierarchical mechanisms control the clearance of DNA lesion-stalled RNA polymerase II.

层级机制控制着DNA损伤停滞的RNA聚合酶II的清除。

van der Meer Paula J, Yakoub George, Tsukada Kotaro, Nakazawa Yuka, Ogi Tomoo, Luijsterburg Martijn S

Brain lipid profiles and oligodendrocyte gene expression show discordant responses to high-fat diet in Alzheimer's disease mice

阿尔茨海默病小鼠的脑脂质谱和少突胶质细胞基因表达对高脂饮食的反应不一致。

Kawade, Noe; Komine, Okiru; Sobue, Akira; Kakimi, Chihiro; Tanaka, Miyako; Suganami, Takayoshi; Shimada, Mayuko; Ogi, Tomoo; Ikeda, Kazutaka; Horiuchi, Mai; Watanabe, Seiji; Saito, Takashi; Yamanaka, Koji

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome

两名患有先天性重症肌无力综合征的同胞携带复合杂合CHAT基因突变,包括一个错义突变和一个剪接位点变异。

Kikuchi, Shin; Wada, Nobuhiro; Mariya, Tasuku; Ishikawa, Aki; Kihara, Minako; Furukawa, Sawako; Kato, Hidekazu; Nishio, Yosuke; Ogi, Tomoo; Ohsaki, Yuki; Tachi, Nobutada

XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit

XP-J是第九个着色性干皮病互补群,由编码TFIIH-p52亚基的GTF2H4基因突变引起。

Fassihi, Hiva; Mohammed, Shehla; Nakazawa, Yuka; Fawcett, Heather; Turner, Sally; Palfrey, Joanne; Garrood, Isabel; Abiona, Adesoji; Morley, Ana Ms; Shimada, Mayuko; Kato, Kana; Lehmann, Alan R; Ogi, Tomoo

Transient Dietary Intervention Induces Healthy Adipose Tissue Expansion and Metabolically Healthy Obesity in Mice

短暂的饮食干预可诱导小鼠健康脂肪组织扩张和代谢健康的肥胖

Wada, Eri; Hosono, Hirotaka; Tanaka, Miyako; Miyakawa, Fumi; Ochi, Kozue; Kohda, Hiro; Tanno, Shogo; Shimano, Reon; Ito, Ayaka; Kitaura, Yasuyuki; Ichihara, Kazuya; Matsumoto, Akinobu; Ogi, Tomoo; Satoh-Asahara, Noriko; Murohara, Toyoaki; Suganami, Takayoshi

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.

新型 FBN1 内含子变异通过框内外显子跳跃导致孤立性晶状体异位

Shimizu Norihiro, Mashimo Yoichi, Yokouchi Hirotaka, Nishio Yosuke, Sawai Setsu, Ichikawa Tomohiko, Ogi Tomoo, Baba Takayuki, Onouchi Yoshihiro

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications

Beckwith-Wiedermann 综合征谱系中新发 CDKN1C 变异伴非典型并发症

Moriura, Yuri; Nishio, Yosuke; Ichimura, Shintaro; Noda, Haruka; Tanahashi, Yoshihiro; Yamamoto, Hikaru; Nakazawa, Yuka; Oso, Taichi; Sato, Yoshiaki; Takenouchi, Toshiki; Saitoh, Shinji; Muramatsu, Yukako; Ogi, Tomoo

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects

伴有 22q11.2 缺失及其他基因缺陷的难治性精神分裂症

Furukawa, Sawako; Arafuka, Shusei; Kato, Hidekazu; Ogi, Tomoo; Ozaki, Norio; Ikeda, Masashi; Kushima, Itaru