Publications:

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Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.

Npj Precision Oncology

Wu, Chia-Chin CC; Beird, Hannah C HC; Lamhamedi-Cherradi, Salah-Eddine SE; Soeung, Melinda M; Ingram, Davis D; Truong, Danh D DD; Porter, Robert W RW; Krishnan, Sandhya S; Little, Latasha L; Gumbs, Curtis C; Zhang, Jianhua J; Titus, Mark M; Genovese, Giannicola G; Ludwig, Joseph A JA; Lazar, Alexander J AJ; Hayes-Jordan, Andrea A; Futreal, P Andrew PA

Publication Date: 2022-04-04

Variant appearance in text: PCSK9: V4I; rs186669805

PubMed Link: 35379887

Variant Present in the following documents:

• 41698_2022_257_MOESM2_ESM.xlsx

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LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal Of Clinical Laboratory Analysis

Hamasaki, Masato M; Sakane, Naoki N; Hara, Kazuo K; Kotani, Kazuhiko K

Publication Date: 2021-11

Variant appearance in text: PCSK9: V4I

PubMed Link: 34652028

Variant Present in the following documents:

• Main text

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Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association

Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S

Publication Date: 2021-02-16

Variant appearance in text: PCSK9: 10G>A; rs186669805

PubMed Link: 33533259

Variant Present in the following documents:

• Main text
• JAH3-10-e018263.pdf
• JAH3-10-e018263-s001.pdf

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Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.

Bmj Open

Tada, Hayato H; Okada, Hirofumi H; Yoshida, Shohei S; Shimojima, Masaya M; Nomura, Akihiro A; Tsuda, Toyonobu T; Mori, Mika M; Takashima, Shin-Ichiro SI; Kato, Takeshi T; Usui, Soichiro S; Sakata, Kenji K; Hayashi, Kenshi K; Fujino, Noboru N; Inazu, Akihiro A; Takahara, Shizuko S; Imai, Yasuhito Y; Matsubara, Takao T; Nohara, Atsushi A; Miwa, Kenji K; Namura, Masanobu M; Terai, Hidenobu H; Yoshida, Taiji T; Araki, Tsutomu T; Minamoto, Masahiro M; Aburao, Toru T; Ito, Yuji Y; Nakanishi, Chiaki C; Kawasaki, Suguru S; Todo, Yasuhiro Y; Koizumi, Junji J; Kita, Yoshihito Y; Matsumoto, Hiroshi H; Shintaku, Hiroaki H; Hodatsu, Akihiko A; Ino, Hidekazu H; Higashikata, Toshinori T; Takata, Mutsuko M; Misawa, Katsushi K; Yamaguchi, Masato M; Noji, Yoshihiro Y; Osato, Kazuo K; Mabuchi, Tomohito T; Ichise, Taro T; Kaku, Bunji B; Katsuda, Shoji S; Fujimoto, Manabu M; Uchiyama, Katsuharu K; Fujioka, Kensuke K; Nakahashi, Takuya T; Nozue, Tsuyoshi T; Michishita, Ichiro I; Usuda, Kazuo K; Otowa, Kanichi K; Okeie, Kazuyasu K; Hirota, Satoshi S; Aburadani, Isao I; Kurokawa, Keisuke K; Takatori, Osamu O; Hondo, Shunichiro S; Oda, Hiroyuki H; Takata, Shigeo S; Murai, Hisayoshi H; Kinoshita, Masaki M; Nagai, Hideo H; Sekiguchi, Yoshiteru Y; Sakagami, Satoru S; Omi, Wataru W; Fujita, Chikara C; Katsuki, Tatsuo T; Ootsuji, Hiroshi H; Igarashi, Atsushi A; Nakano, Manabu M; Okura, Seiichiro S; Maeno, Koji K; Mitamura, Yasuhito Y; Sugimoto, Naoki N; Yamamoto, Masakazu M; Akao, Hironobu H; Kajinami, Kouji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2020-09-10

Variant appearance in text: PCSK9: Val4Ile

PubMed Link: 32912992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: PCSK9: 10G>A

PubMed Link: 32793292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

Bmj Open

Nomura, Akihiro A; Tada, Hayato H; Okada, Hirofumi H; Nohara, Atsushi A; Ishikawa, Hideki H; Yoshimura, Kenichi K; Kawashiri, Masa-Aki MA

Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Val4Ile

PubMed Link: 30593551

Variant Present in the following documents:

• Main text

View BVdb publication page

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Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)

Shirahama, Ryo R; Ono, Takamichi T; Nagamatsu, Suguru S; Sueta, Daisuke D; Takashio, Seiji S; Chitose, Tadasuke T; Fujisue, Koichiro K; Sakamoto, Kenji K; Yamamoto, Eiichiro E; Izumiya, Yasuhiro Y; Kaikita, Koichi K; Hokimoto, Seiji S; Hori, Mika M; Harada-Shiba, Mariko M; Kajiwara, Ichiro I; Ogawa, Hisao H; Tsujita, Kenichi K

Publication Date: 2018

Variant appearance in text: PCSK9: 10G>A

PubMed Link: 30555118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One

Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2017

Variant appearance in text: PCSK9: V4I; rs186669805

PubMed Link: 29036232

Variant Present in the following documents:

• Main text

View BVdb publication page

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