Publications:

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An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Yoshida, Aya A; Aoyama, Kohei K; Yamaguchi, Naoya N; Suzuki, Atsushi A; Mizuno, Haruo H; Tada, Hayato H; Saitoh, Shinji S

Publication Date: 2023

Variant appearance in text: ABCG5: 1166G>A; Arg389His; rs119480069

PubMed Link: 37020702

Variant Present in the following documents:

• Main text
• cpe-32-114.pdf

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Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.

Genes

Teng, Ming-Sheng MS; Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Chou, Hsin-Hua HH; Er, Leay-Kiaw LK; Wu, Semon S; Ko, Yu-Lin YL

Publication Date: 2023-03-20

Variant appearance in text: ABCG5: R389H; rs119480069

PubMed Link: 36981027

Variant Present in the following documents:

• Main text
• genes-14-00754.pdf

View BVdb publication page

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Lipids In Health And Disease

Zhang, Jun J; Chen, Qiu-Li QL; Guo, Song S; Li, Yan-Hong YH; Li, Chuan C; Zheng, Ru-Jiang RJ; Luo, Xue-Qun XQ; Ma, Hua-Mei HM

Publication Date: 2022-10-13

Variant appearance in text: ABCG5: 1166G>A

PubMed Link: 36229885

Variant Present in the following documents:

• Main text
• 12944_2022_Article_1710.pdf

View BVdb publication page

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Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.

Internal Medicine (Tokyo, Japan)

Tada, Hayato H; Okada, Hirofumi H; Nomura, Akihiro A; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022-06-14

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 35705271

Variant Present in the following documents:

• 1349-7235-62-0251.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: ABCG5: 1166G>A; R389H; rs119480069

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ABCG5: 1166G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Features of chinese patients with sitosterolemia.

Lipids In Health And Disease

Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X

Publication Date: 2022-01-18

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 35042526

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1619.pdf

View BVdb publication page

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Features of chinese patients with sitosterolemia.

Lipids In Health And Disease

Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X

Publication Date: 2022-01-18

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 35042526

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1619.pdf

View BVdb publication page

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Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.

Frontiers In Genetics

Deng, Libin L; Xu, Jingsong J; Chen, Wei W; Guo, Shicheng S; Steiner, Robert D RD; Chen, Qi Q; Cheng, Zhujun Z; Xu, Yanmei Y; Yao, Bei B; Li, Xiaoyan X; Wang, Xiaozhong X; Deng, Keyu K; Schrodi, Steven J SJ; Zhang, Dake D; Xin, Hongbo H

Publication Date: 2021

Variant appearance in text: ABCG5: R389H

PubMed Link: 34880906

Variant Present in the following documents:

View BVdb publication page

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Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia.

Cjc Open

Yamada, Yoshihiro Y; Sugi, Keiki K; Gatate, Yodo Y; Senbonmatsu, Takaaki T; Inoue, Ikuo I; Fukushima, Kenji K; Iguchi, Atsushi A; Nakajima, Hiroyuki H; Muramatsu, Toshihiro T; Nakano, Shintaro S; Tada, Hayato H

Publication Date: 2021-08

Variant appearance in text: ABCG5: Arg389His

PubMed Link: 34505049

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2022-05-01

Variant appearance in text: ABCG5: R389H; rs119480069

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

View BVdb publication page

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Diagnosis and Management of Sitosterolemia 2021.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nomura, Akihiro A; Ogura, Masatsune M; Ikewaki, Katsunori K; Ishigaki, Yasushi Y; Inagaki, Kyoko K; Tsukamoto, Kazuhisa K; Dobashi, Kazushige K; Nakamura, Kimitoshi K; Hori, Mika M; Matsuki, Kota K; Yamashita, Shizuya S; Yokoyama, Shinji S; Kawashiri, Masa-Aki MA; Harada-Shiba, Mariko M

Publication Date: 2021-08-01

Variant appearance in text: ABCG5: Arg389His

PubMed Link: 33907061

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

International Journal Of Molecular Sciences

Williams, Kori K; Segard, Allison A; Graf, Gregory A GA

Publication Date: 2021-03-05

Variant appearance in text: ABCG5: R389H

PubMed Link: 33807969

Variant Present in the following documents:

• Main text
• ijms-22-02641.pdf

View BVdb publication page

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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

Npj Genomic Medicine

Wei, Chun-Yu CY; Yang, Jenn-Hwai JH; Yeh, Erh-Chan EC; Tsai, Ming-Fang MF; Kao, Hsiao-Jung HJ; Lo, Chen-Zen CZ; Chang, Lung-Pao LP; Lin, Wan-Jia WJ; Hsieh, Feng-Jen FJ; Belsare, Saurabh S; Bhaskar, Anand A; Su, Ming-Wei MW; Lee, Te-Chang TC; Lin, Yi-Ling YL; Liu, Fu-Tong FT; Shen, Chen-Yang CY; Li, Ling-Hui LH; Chen, Chien-Hsiun CH; Wall, Jeffrey D JD; Wu, Jer-Yuarn JY; Kwok, Pui-Yan PY

Publication Date: 2021-02-11

Variant appearance in text: rs119480069

PubMed Link: 33574314

Variant Present in the following documents:

• Main text
• 41525_2021_Article_178.pdf

View BVdb publication page

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Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters

Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY

Publication Date: 2020-12

Variant appearance in text: ABCG5: R389H

PubMed Link: 32978801

Variant Present in the following documents:

• Main text
• FEB2-594-4035.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ABCG5: 1166G>A; R389H

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCG5: 1166G>A; Arg389His; rs119480069

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: ABCG5: 1166G>A; rs119480069

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Biochemical Society Transactions

Zein, Aiman A AA; Kaur, Rupinder R; Hussein, Toka O K TOK; Graf, Gregory A GA; Lee, Jyh-Yeuan JY

Publication Date: 2019-10-31

Variant appearance in text: ABCG5: R389H

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.pdf

View BVdb publication page

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Medicine

Huang, Dan D; Zhou, Qiong Q; Chao, Yun-Qi YQ; Zou, Chao-Chun CC

Publication Date: 2019-04

Variant appearance in text: ABCG5: 1166G>A; Arg389His

PubMed Link: 30985648

Variant Present in the following documents:

• Main text
• medi-98-e15013.pdf

View BVdb publication page

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Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA

Publication Date: 2018-09-01

Variant appearance in text: ABCG5: R389H

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

View BVdb publication page

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A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Ono, Sahoko S; Matsuda, Junko J; Saito, Aki A; Yamamoto, Takenobu T; Fujimoto, Wataru W; Shimizu, Hitomi H; Dateki, Sumito S; Ouchi, Kazunobu K

Publication Date: 2017-01

Variant appearance in text: ABCG5: R389H

PubMed Link: 28203044

Variant Present in the following documents:

• Main text
• cpe-26-017.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STSL: R389H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.

Jimd Reports

Tada, Hayato H; Kawashiri, Masa-Aki MA; Takata, Mutsuko M; Matsunami, Kunihiro K; Imamura, Atsushi A; Matsuyama, Misayo M; Sawada, Hirotake H; Nunoi, Hiroyuki H; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Kobayashi, Junji J; Mabuchi, Hiroshi H; Yamagishi, Masakazu M

Publication Date: 2015

Variant appearance in text: ABCG5: Arg389His

PubMed Link: 25665839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: ABCG5: R389H

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG5: Arg389His

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic basis of sitosterolemia.

Current Opinion In Lipidology

Lee, M H MH; Lu, K K; Patel, S B SB

Publication Date: 2001-04

Variant appearance in text: ABCG5: Arg389His

PubMed Link: 11264985

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Nature Genetics

Lee, M H MH; Lu, K K; Hazard, S S; Yu, H H; Shulenin, S S; Hidaka, H H; Kojima, H H; Allikmets, R R; Sakuma, N N; Pegoraro, R R; Srivastava, A K AK; Salen, G G; Dean, M M; Patel, S B SB

Publication Date: 2001-01

Variant appearance in text: ABCG5: R389H

PubMed Link: 11138003

Variant Present in the following documents:

• Main text

View BVdb publication page

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