鈴木寿人(スズキヒサト)

所属

医学医療系

職名

准教授

ORCID

研究分野


人類遺伝学
小児科学

研究キーワード


希少疾患
エクソーム解析
メタゲノム
遺伝子解析

研究課題


新規ウイルス探索を含めた川崎病患者に対するショットガンメタゲノム解析	2022-04 -- (現在)	鈴木　寿人	科研費//科学研究費助成事業（学術研究助成基金助成金）基盤研究(c)(一般）
超長寿者を比較対象とした肺高血圧患者の遺伝子構造異常解析とリスク評価	2020-04 -- 2022-03	鈴木　寿人	科研費/若手研究
食物アレルギーの発症における腸内細菌叢の役割の解明	2017-04 -- 2021-03	鈴木　寿人	科研費/Grants-in-Aid for Scientific Research(若手研究(B))

学歴


2014-04 -- 2017-03	筑波大学大学院人間総合科学研究科疾患制御医学専攻
2003-04 -- 2009-03	筑波大学医学専門学群医学類

取得学位


2009-03	学士（医学）	筑波大学
2017-03	博士（医学）	筑波大学

免許資格等


2019-11	臨床遺伝専門医
2019-04	日本アレルギー学会専門医
2014-10	日本小児科学会専門医
2009-04	医師免許

所属学協会


2017 -- (現在)	日本小児遺伝学会
2017 -- (現在)	日本先天異常学会
2012 -- (現在)	日本アレルギー学会
2015 -- (現在)	日本人類遺伝学会
2011 -- (現在)	日本小児科学会

論文

A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever
Yamada Saeko; Nagafuchi Yasuo; Yamada Mamiko; Suzuki ...
FRONTIERS IN IMMUNOLOGY/15, 2024-10-25
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
Nakato Daisuke; Yasue Yuri; Matsubara Kohei; Suzuki H...
European journal of medical genetics, 2024-11-19
PubMed
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases
Kanai Yu; Takahashi Hironori; Hasegawa Fuyuki; Mori A...
American journal of medical genetics. Part A/Epub, 2024-09-26
PubMed
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
Watanabe Daisuke; Okamoto Nobuhiko; Kobayashi Yuichi; ...
Scientific reports/14(1), 2024-08-26
PubMed
Digital clubbing without hypoxia for lysinuric protein intolerance
Watanabe Daisuke; Tsujioka Yuko; Nakato Daisuke; Yamad...
European journal of medical genetics, 2024-08-14
PubMed
Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2
Li Simo; Guo Youjia; Takahashi Miyuki; Suzuki Hisato; ...
Developmental neurobiology/84(3)/pp.203-216, 2024-07-01
PubMed
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function
Kaneko Shuya; Sakura Fumiaki; Tanita Kay; Shimbo Asam...
Immunotherapy advances/3(1)/p.ltad027, 2023-04-01
PubMed
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
Suzuki Hisato; Muramatsu Yukako; Miya Fuyuki; Asada H...
European journal of medical genetics/70, 2024-06-08
PubMed
Gut microbiota of one-and-a-half-year-old food-allergic and healthy children
Hara Monami; Suzuki Hisato; Hayashi Daisuke; Morii Wa...
Allergology international : official journal of the Japanese Society of Allergology/73(4)/pp.550-555, 2024-04-09
PubMed
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
Saito Sonoko; Saito Yuki; Sato Showbu; Aoki Satomi; F...
The American Journal of Human Genetics, 2024-04
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
Yamada Mamiko; Mizuno Seiji; Inaba Mie; Uehara Tomoko...
American journal of medical genetics. Part A, 2024-04-02
PubMed
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
Takahashi Ikuko; Noguchi Atsuko; Kondo Daiki; Sato Yo...
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology/33(1)/pp.39-42, 2024-04-01
PubMed
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Yamada Mamiko; Maeta Kazuhiro; Suzuki Hisato; Kurosawa...
Scientific reports/14(1)/p.6506, 2024-03-18
PubMed
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
Nishino Megumi; Tanaka Mai; Imagawa Kazuo; Yaita Katsuyu...
AMERICAN JOURNAL OF MEDICAL GENETICS PART A/194(7), 2024-02-26
PubMed
SALL4 deletion and kidney and cardiac defects associated with VACTERL association
Watanabe Daisuke; Nakato Daisuke; Yamada Mamiko; Suzuk...
Pediatric nephrology (Berlin, Germany), 2024-02-08
PubMed
X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review
Kuroda Aoi; Namkoong Ho; Iwami Eri; Tsutsumi Akihiro; ...
Respirology case reports/11(12), 2023-12-01
PubMed
BMP2 is a potential causative gene for isolated dextrocardia situs solitus
Yogi Analia; Iemura Ryosei; Nakatani Hisae; Takasawa ...
European journal of medical genetics/66(9), 2023-09-01
PubMed
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
Yamada Mamiko; Nitta Yohei; Uehara Tomoko; Suzuki His...
European journal of medical genetics/66(8), 2023-08-01
PubMed
Café-au-lait Spots and Cleft Palate: Not a Chance Association
Yamada Mamiko; Tanito Katsumi; Suzuki Hisato; Nakato ...
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2023-07-14
PubMed
Oculofaciocardiodental syndrome caused by a novel BCOR variant
Yamashita Tomoyo; Hotta Junko; Jogu Yukiko; Sakai Eri...
Human genome variation/10(1)/p.18, 2023-06-12
PubMed
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
Ouchi Shogo; Ishii Kazuhiro; Kosaki Kenjiro; Suzuki H...
BMC NEUROLOGY/23(1)/p.211, 2023-06-01
PubMed
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Ogawa Eri; Hishiki Takako; Hayakawa Noriyo; Suzuki Hi...
Molecular genetics and metabolism reports/35, 2023-06-01
PubMed
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
Hayashi Takahiro; Yano Naoko; Kora Kengo; Yokoyama At...
Human molecular genetics/32(10)/pp.1683-1697, 2023-05-05
PubMed
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1
Kawahara Sakura; Imagawa Kazuo; Suzuki Hisato; Ohto T...
PEDIATRICS INTERNATIONAL/65(1), 2023-04-01
PubMed
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
Murofushi Yuka; Hayakawa Itaru; Kawai Michiko; Abe Yu...
Movement disorders clinical practice/10(4)/pp.719-721, 2023-04-01
PubMed
さらに表示...

会議発表等

初診時に緊急血液透析を要した，遺伝子検査で診断したSenior-Loken症候群の一例
黒河　周; 臼井俊明; 中島　健太郎; 原田　拓也; 清水　達也; 角田　亮也; 森戸　直記; 間瀬　かおり; ...
第54回日本腎臓学会東部学術大会/2024-09-28--2024-09-29
小児遺伝性疾患患者を対象としたPubcaseFinderを用いた疾患候補遺伝子パネルの検討
鈴木寿人
第46回日本小児遺伝学会学術集会/2023-12-08--2023-12-09
Genetic analysis in preventive medicine and following medical management
SUZUKI Hisato
Human Genetics Asia 2023/2023-10-11--2023-10-14
小児遺伝性疾患の診断技術と創薬における将来展望
鈴木寿人
BioJapan2023/2023-10-11--2023-10-13
IRUDに関わって
鈴木寿人
2023年IRUDワークショップ/2023-07-14--2023-07-14
重症新生児・乳幼児に対する迅速なゲノム診断の全国ネットワーク構築
鈴木寿人
第126回日本小児科学会学術集会/2023-04-14--2023-04-16
脳梗塞を契機に診断に至ったアデノシンデアミナーゼ2欠損症の21歳女性例
奥根祥; 早川幹人; 穂坂翔; 鈴木寿人; 高田英俊; 斉木臣二; 松丸祐司
第247回日本神経学会関東・甲信越地方会/2023-12-2

担当授業科目


2023-04 -- (現在)	小児の成長・発達と疾患系	筑波大学　医学専門学群医学類

一般講演

単因子遺伝・ゲノム解析の基礎
鈴木寿人
第10回総合アレルギー講習会/2024-03-16--2024-03-17

学協会等委員


2023-11 -- 2025-03	日本先天異常学会	評議員

(最終更新日: 2024-11-22)

鈴木 寿人(スズキ ヒサト)

鈴木寿人(スズキヒサト)