Publications:

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Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines

Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H

Publication Date: 2023-04-24

Variant appearance in text: rs1064039

PubMed Link: 37238932

Variant Present in the following documents:

• biomedicines-11-01261.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: CST3: A25T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Analysis of Wild Type and Variant B Cystatin C Interactome in Retinal Pigment Epithelium Cells Reveals Variant B Interacting Mitochondrial Proteins.

Cells

Carlsson, Emil E; Sharif, Umar U; Supharattanasitthi, Wasu W; Paraoan, Luminita L

Publication Date: 2023-02-23

Variant appearance in text: CST3: A25T

PubMed Link: 36899848

Variant Present in the following documents:

• Main text
• cells-12-00713.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: CST3: 73G>A; Ala25Thr; rs1064039

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: CST3: A25T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CST3: 73G>A; Ala25Thr

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: CST3: A25T; rs1064039

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• 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: CST3: A25T; rs1064039

PubMed Link: 34673281

Variant Present in the following documents:

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

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: CST3: 73G>A; Ala25Thr

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Combining PARP with ATR inhibition overcomes PARP inhibitor and platinum resistance in ovarian cancer models.

Nature Communications

Kim, Hyoung H; Xu, Haineng H; George, Erin E; Hallberg, Dorothy D; Kumar, Sushil S; Jagannathan, Veena V; Medvedev, Sergey S; Kinose, Yasuto Y; Devins, Kyle K; Verma, Priyanka P; Ly, Kevin K; Wang, Yifan Y; Greenberg, Roger A RA; Schwartz, Lauren L; Johnson, Neil N; Scharpf, Robert B RB; Mills, Gordon B GB; Zhang, Rugang R; Velculescu, Victor E VE; Brown, Eric J EJ; Simpkins, Fiona F

Publication Date: 2020-07-24

Variant appearance in text: CST3: Ala25Thr

PubMed Link: 32709856

Variant Present in the following documents:

• 41467_2020_17127_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: CST3: A25T

PubMed Link: 32345996

Variant Present in the following documents:

• Main text
• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.

Stem Cells Translational Medicine

Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F

Publication Date: 2020-08

Variant appearance in text: rs1064039

PubMed Link: 32319201

Variant Present in the following documents:

• SCT3-9-936-s001.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1064039

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association between cystatin C gene polymorphism and the prevalence of white matter lesion in elderly healthy subjects.

Scientific Reports

Maniwa, Kyohei K; Yano, Shozo S; Sheikh, Abdullah Md AM; Onoda, Keiichi K; Mitaki, Shingo S; Isomura, Minoru M; Mishima, Seiji S; Yamaguchi, Shuhei S; Nabika, Toru T; Nagai, Atsushi A

Publication Date: 2020-03-13

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 32170118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased Rate of Retinal Pigment Epithelial Cell Migration and Pro-Angiogenic Potential Ensuing From Reduced Cystatin C Expression.

Investigative Ophthalmology & Visual Science

Carlsson, Emil E; Supharattanasitthi, Wasu W; Jackson, Malcolm M; Paraoan, Luminita L

Publication Date: 2020-02-07

Variant appearance in text: CST3: A25T

PubMed Link: 32049341

Variant Present in the following documents:

• Main text
• iovs-61-2-9.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: CST3: 73G>A; Ala25Thr

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CST3: A25T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The Amyloid-Tau-Neuroinflammation Axis in the Context of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences

Cisternas, Pablo P; Taylor, Xavier X; Lasagna-Reeves, Cristian A CA

Publication Date: 2019-12-14

Variant appearance in text: CST3: A25T

PubMed Link: 31847365

Variant Present in the following documents:

• Main text
• ijms-20-06319.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: CST3: 73G>A; Ala25Thr; rs1064039

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM5_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM4_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: CST3: A25T; rs1064039

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2019-09-11

Variant appearance in text: rs1064039

PubMed Link: 31514322

Variant Present in the following documents:

• Main text
• nutrients-11-02181.pdf

View BVdb publication page

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Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.

International Journal Of Molecular Sciences

Peng, Hui H; Hulleman, John D JD

Publication Date: 2019-08-08

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 31398819

Variant Present in the following documents:

• Main text
• ijms-20-03855.pdf

View BVdb publication page

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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: CST3: A25T; rs1064039

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1064039

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: CST3: 73G>A; Ala25Thr; rs1064039

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CST3: 73G>A; A25T; rs1064039

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Journal Of Clinical Pathology

Chyra Kufova, Zuzana Z; Sevcikova, Tereza T; Januska, Jaroslav J; Vojta, Petr P; Boday, Arpad A; Vanickova, Pavla P; Filipova, Jana J; Growkova, Katerina K; Jelinek, Tomas T; Hajduch, Marian M; Hajek, Roman R

Publication Date: 2018-08

Variant appearance in text: CST3: Ala25Thr; rs1064039

PubMed Link: 29455155

Variant Present in the following documents:

• Main text
• jclinpath-2017-204978.pdf

View BVdb publication page

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Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?

Frontiers In Neuroscience

Benussi, Luisa L; Binetti, Giuliano G; Ghidoni, Roberta R

Publication Date: 2017

Variant appearance in text: CST3: Ala25Thr

PubMed Link: 29249935

Variant Present in the following documents:

• Main text
• fnins-11-00672.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Unraveling the genes implicated in Alzheimer's disease.

Biomedical Reports

Giri, Mohan M; Shah, Abhilasha A; Upreti, Bibhuti B; Rai, Jayanti Chamling JC

Publication Date: 2017-08

Variant appearance in text: rs1064039

PubMed Link: 28781776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Journey of cystatins from being mere thiol protease inhibitors to at heart of many pathological conditions.

International Journal Of Biological Macromolecules

Shamsi, Anas A; Bano, Bilqees B

Publication Date: 2017-09

Variant appearance in text: CST3: A25T

PubMed Link: 28445699

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science

Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR

Publication Date: 2017-02

Variant appearance in text: rs1064039

PubMed Link: 28386409

Variant Present in the following documents:

• rsos160254supp3.xlsx, sheet 1
• rsos160254supp3.xlsx, sheet 6

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: CST3: 73G>A; A25T

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One

Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F

Publication Date: 2016

Variant appearance in text: rs1064039

PubMed Link: 27336301

Variant Present in the following documents:

• pone.0158064.s002.xlsx, sheet 5

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 27249223

Variant Present in the following documents:

• pone.0150079.s002.xlsx, sheet 1

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HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Journal Of Translational Medicine

Xue, Feng F; Higgs, Brandon W BW; Huang, Jiaqi J; Morehouse, Chris C; Zhu, Wei W; Yao, Xin X; Brohawn, Philip P; Xiao, Zhan Z; Sebastian, Yinong Y; Liu, Zheng Z; Xia, Yun Y; Shen, Dong D; Kuziora, Mike M; Dong, Zhengwei Z; Han, Hulin H; Gu, Yi Y; Gu, Jianren J; Xia, Qiang Q; Yao, Yihong Y

Publication Date: 2015-12-11

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 26653219

Variant Present in the following documents:

• 12967_2015_743_MOESM1_ESM.xlsx, sheet 5

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: CST3: 73G>A; A25T; rs1064039

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 2

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CST3: A25T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.

Human Genetics

Butler, Joe M JM; Sharif, Umar U; Ali, Manir M; McKibbin, Martin M; Thompson, Joseph P JP; Gale, Richard R; Yang, Yit C YC; Inglehearn, Chris C; Paraoan, Luminita L

Publication Date: 2015-07

Variant appearance in text: CST3: Ala25Thr; rs1064039

PubMed Link: 25893795

Variant Present in the following documents:

• Main text
• 439_2015_Article_1552.pdf

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14

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Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics

Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD

Publication Date: 2014-10

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 25299611

Variant Present in the following documents:

• pgen.1004704.s006.xlsx, sheet 1

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

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Genetics of late-onset Alzheimer's disease: update from the alzgene database and analysis of shared pathways.

International Journal Of Alzheimer'S Disease

Olgiati, Paolo P; Politis, Antonis M AM; Papadimitriou, George N GN; De Ronchi, Diana D; Serretti, Alessandro A

Publication Date: 2011

Variant appearance in text: rs1064039

PubMed Link: 22191060

Variant Present in the following documents:

• Main text

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Association between CST3 rs2424577 polymorphism and corpulence related phenotypes during lifetime in populations of European ancestry.

Obesity Facts

Hooton, Henri H; Dubern, Beatrice B; Henegar, Corneliu C; Paternoster, Lavinia L; Nohr, Ellen A EA; Alili, Rohia R; Rousseau, Francis F; Pelloux, Veronique V; Galan, Pilar P; Hercberg, Serge S; Arner, Peter P; Sørensen, Thorkild I A TI; Clément, Karine K

Publication Date: 2011

Variant appearance in text: rs1064039

PubMed Link: 21577020

Variant Present in the following documents:

• Main text

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Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM

Publication Date: 2011-03-31

Variant appearance in text: rs1064039

PubMed Link: 21547229

Variant Present in the following documents:

• Main text
• IJAD2011-490140.pdf

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Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Human Molecular Genetics

Corneveaux, Jason J JJ; Myers, Amanda J AJ; Allen, April N AN; Pruzin, Jeremy J JJ; Ramirez, Manuel M; Engel, Anzhelika A; Nalls, Michael A MA; Chen, Kewei K; Lee, Wendy W; Chewning, Kendria K; Villa, Stephen E SE; Meechoovet, Hunsar B HB; Gerber, Jill D JD; Frost, Danielle D; Benson, Hollie L HL; O'Reilly, Sean S; Chibnik, Lori B LB; Shulman, Joshua M JM; Singleton, Andrew B AB; Craig, David W DW; Van Keuren-Jensen, Kendall R KR; Dunckley, Travis T; Bennett, David A DA; De Jager, Philip L PL; Heward, Christopher C; Hardy, John J; Reiman, Eric M EM; Huentelman, Matthew J MJ

Publication Date: 2010-08-15

Variant appearance in text: rs1064039

PubMed Link: 20534741

Variant Present in the following documents:

• Main text

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Assessment of Alzheimer's disease case-control associations using family-based methods.

Neurogenetics

Schjeide, Brit-Maren M BM; McQueen, Matthew B MB; Mullin, Kristina K; DiVito, Jason J; Hogan, Meghan F MF; Parkinson, Michele M; Hooli, Basavaraj B; Lange, Christoph C; Blacker, Deborah D; Tanzi, Rudolph E RE; Bertram, Lars L

Publication Date: 2009-02

Variant appearance in text: CST3: A25T; rs1064039

PubMed Link: 18830724

Variant Present in the following documents:

• Main text

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Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology

Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP

Publication Date: 2008-10-15

Variant appearance in text: rs1064039

PubMed Link: 18779388

Variant Present in the following documents:

• Main text

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