Publications:

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Recent Development in the Understanding of Molecular and Cellular Mechanisms Underlying the Etiopathogenesis of Alzheimer's Disease.

International Journal Of Molecular Sciences

Afsar, Atefeh A; Chacon Castro, Maria Del Carmen MDC; Soladogun, Adedamola Saidi AS; Zhang, Li L

Publication Date: 2023-04-14

Variant appearance in text: ATP7B: R952K

PubMed Link: 37108421

Variant Present in the following documents:

• Main text
• ijms-24-07258.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ATP7B: R952K

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.

Journal Of Movement Disorders

Fan, Sung-Pin SP; Kuo, Yih-Chih YC; Lee, Ni-Chung NC; Chien, Yin-Hsiu YH; Hwu, Wuh-Liang WL; Huang, Yu-Hsuan YH; Lin, Han-I HI; Tseng, Tai-Chung TC; Su, Tung-Hung TH; Tzeng, Shiou-Ru SR; Hsu, Chien-Ting CT; Chen, Huey-Ling HL; Lin, Chin-Hsien CH; Ni, Yen-Hsuan YH

Publication Date: 2023-03-06

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys

PubMed Link: 36872857

Variant Present in the following documents:

• jmd-22161.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: ATP7B: R952K

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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The Role of Clusterin Transporter in the Pathogenesis of Alzheimer's Disease at the Blood-Brain Barrier Interface: A Systematic Review.

Biomolecules

Fareed, Muhammad Mazhar MM; Qasmi, Maryam M; Aziz, Shaan S; Völker, Elisabeth E; Förster, Carola Yvette CY; Shityakov, Sergey S

Publication Date: 2022-10-10

Variant appearance in text: ATP7B: R952K

PubMed Link: 36291661

Variant Present in the following documents:

• biomolecules-12-01452.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ATP7B: R952K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.

Cureus

Vicario-Feliciano, Raquel R; Hernández-Hernández, Cristal I CI; Camacho-Pastor, Ivonne C IC; Martínez-Cruzado, Juan C JC

Publication Date: 2022-04

Variant appearance in text: ATP7B: Arg952Lys; rs732774

PubMed Link: 35637795

Variant Present in the following documents:

• Main text
• cureus-0014-00000024446.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys; rs732774

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Human Molecular Genetics

Song, Dan D; Takahashi, Gou G; Zheng, Yun-Wen YW; Matsuo-Takasaki, Mami M; Li, Jingyue J; Takami, Miho M; An, Yuri Y; Hemmi, Yasuko Y; Miharada, Natsumi N; Fujioka, Tsuyoshi T; Noguchi, Michiya M; Nakajima, Takashi T; Saito, Megumu K MK; Nakamura, Yukio Y; Oda, Tatsuya T; Miyaoka, Yuichiro Y; Hayashi, Yohei Y

Publication Date: 2022-10-28

Variant appearance in text: ATP7B: R952K

PubMed Link: 35388883

Variant Present in the following documents:

• Main text
• ddac080.pdf
• supplementaryinformation-sd-yh_proof_ddac080.pdf

View BVdb publication page

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Identification of potential modifier genes in Chinese patients with Wilson disease.

Metallomics : Integrated Biometal Science

Zhou, Donghu D; Jia, Siyu S; Yi, Liping L; Wu, Zhen Z; Song, Yi Y; Zhang, Bei B; Li, Yanmeng Y; Yang, Xiaoxi X; Xu, Anjian A; Li, Xiaojin X; Zhang, Wei W; Duan, Weijia W; Li, Zhenkun Z; Qi, Saiping S; Chen, Zhibin Z; Ouyang, Qin Q; Jia, Jidong J; Huang, Jian J; Ou, Xiaojuan X; You, Hong H

Publication Date: 2022-05-27

Variant appearance in text: ATP7B: R952K

PubMed Link: 35357466

Variant Present in the following documents:

• Main text
• mfac024.pdf

View BVdb publication page

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Effect of metal ions on Alzheimer's disease.

Brain And Behavior

Liu, Fan F; Zhang, Zhuo Z; Zhang, Lin L; Meng, Ruo-Ni RN; Gao, Jia J; Jin, Ming M; Li, Ming M; Wang, Xiao-Peng XP

Publication Date: 2022-03

Variant appearance in text: ATP7B: R952K

PubMed Link: 35212185

Variant Present in the following documents:

• BRB3-12-e2527.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: ATP7B: R952K

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Bmc Gastroenterology

Li, Mingming M; Ma, Jing J; Wang, Wenlong W; Yang, Xu X; Luo, Kaizhong K

Publication Date: 2021-09-01

Variant appearance in text: ATP7B: Arg952Lys

PubMed Link: 34470610

Variant Present in the following documents:

• Main text
• 12876_2021_Article_1911.pdf

View BVdb publication page

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Copper Imbalance in Alzheimer's Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants.

Biomolecules

Squitti, Rosanna R; Ventriglia, Mariacarla M; Simonelli, Ilaria I; Bonvicini, Cristian C; Costa, Alfredo A; Perini, Giulia G; Binetti, Giuliano G; Benussi, Luisa L; Ghidoni, Roberta R; Koch, Giacomo G; Borroni, Barbara B; Albanese, Alberto A; Sensi, Stefano L SL; Rongioletti, Mauro M

Publication Date: 2021-06-29

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 34209820

Variant Present in the following documents:

• Main text
• biomolecules-11-00960.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys; rs732774

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.

Medicine

Wang, Jiuxiang J; Tang, Lulu L; Xu, Anqi A; Zhang, Shijie S; Jiang, Hailin H; Pei, Pei P; Li, Hongmei H; Lv, Tingting T; Yang, Yue Y; Qian, Nannan N; Naidu, Keegan K; Yang, Wenming W

Publication Date: 2021-04-23

Variant appearance in text: ATP7B: Arg952Lys

PubMed Link: 33879678

Variant Present in the following documents:

• Main text

View BVdb publication page

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A case of a mild Wolfram Syndrome with concomitant ATP7B mutation.

Cellr4-- Repair, Replacement, Regeneration, & Reprogramming

Squitti, R R; Cerchiaro, G G; Giovannoni, I I; Francalanci, P P; Siotto, M M; Maffei, P P; Ricordi, C C; Rongioletti, M C MC

Publication Date: 2019

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 33869661

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ATP7B: Arg952Lys; rs732774

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Agricultural Use of Copper and Its Link to Alzheimer's Disease.

Biomolecules

Coelho, Fábio C FC; Squitti, Rosanna R; Ventriglia, Mariacarla M; Cerchiaro, Giselle G; Daher, João P JP; Rocha, Jaídson G JG; Rongioletti, Mauro C A MCA; Moonen, Anna-Camilla AC

Publication Date: 2020-06-12

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 32545484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.

Scientific Reports

Kumar, Mukesh M; Gaharwar, Utkarsh U; Paul, Sangita S; Poojary, Mukta M; Pandhare, Kavita K; Scaria, Vinod V; Bk, Binukumar B

Publication Date: 2020-06-03

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 32493955

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66099.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys; rs732774

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ATP7B: 2855G>A; R952K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein.

Metallomics : Integrated Biometal Science

McCann, Courtney J CJ; Jayakanthan, Samuel S; Siotto, Mariacristina M; Yang, Nan N; Osipova, Maria M; Squitti, Rosanna R; Lutsenko, Svetlana S

Publication Date: 2019-06-19

Variant appearance in text: ATP7B: 2855G>A; R952K; rs732774

PubMed Link: 31070637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy.

Radiology And Oncology

Makovec, Tomaz T

Publication Date: 2019-03-28

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys

PubMed Link: 30956230

Variant Present in the following documents:

• Main text
• raon-53-148.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Rethinking the Dental Amalgam Dilemma: An Integrated Toxicological Approach.

International Journal Of Environmental Research And Public Health

Jirau-Colón, Hector H; González-Parrilla, Leonardo L; Martinez-Jiménez, Jorge J; Adam, Waldemar W; Jiménez-Velez, Braulio B

Publication Date: 2019-03-22

Variant appearance in text: rs732774

PubMed Link: 30909378

Variant Present in the following documents:

• Main text

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

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Clusterin in Alzheimer's Disease: Mechanisms, Genetics, and Lessons From Other Pathologies.

Frontiers In Neuroscience

Foster, Evangeline M EM; Dangla-Valls, Adrià A; Lovestone, Simon S; Ribe, Elena M EM; Buckley, Noel J NJ

Publication Date: 2019

Variant appearance in text: ATP7B: R952K; rs732774

PubMed Link: 30872998

Variant Present in the following documents:

• Main text
• fnins-13-00164.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: ATP7B: 2855G>A; Arg952Lys; rs732774

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ATP7B: R952K

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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