Publications:

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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: HRC: S96A; rs3745297

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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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: HRC: S96A; rs3745297

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: HRC: S96A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_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: HRC: S96A; rs3745297

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis.

International Journal Of Molecular Sciences

Vafiadaki, Elizabeth E; Haghighi, Kobra K; Arvanitis, Demetrios A DA; Kranias, Evangelia G EG; Sanoudou, Despina D

Publication Date: 2022-06-22

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 35805951

Variant Present in the following documents:

• Main text
• ijms-23-06947.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: HRC: S96A; rs3745297

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Regulation of cardiac ryanodine receptor function by the cyclic-GMP dependent protein kinase G.

Current Research In Physiology

Gonano, Luis A LA; Aitken-Buck, Hamish M HM; Chakraborty, Akash D AD; Worthington, Luke P I LPI; Cully, Tanya R TR; Lamberts, Regis R RR; Vila-Petroff, Martin G MG; Jones, Peter P PP

Publication Date: 2022

Variant appearance in text: HRC: S96A

PubMed Link: 35356048

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: HRC: S96A

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: HRC: S96A

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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: HRC: S96A

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.

Tzu Chi Medical Journal

Lin, Ding-Jyun DJ; Lee, Wen-Sen WS; Chien, Yu-Chung YC; Chen, Tsung-Yu TY; Yang, Kun-Ta KT

Publication Date: 2021

Variant appearance in text: HRC: S96A

PubMed Link: 34760626

Variant Present in the following documents:

• TCMJ-33-323.pdf

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: HRC: S96A; rs3745297

PubMed Link: 34673281

Variant Present in the following documents:

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

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: HRC: S96A; rs3745297

PubMed Link: 34673281

Variant Present in the following documents:

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

View BVdb publication page

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MicroRNAs and Calcium Signaling in Heart Disease.

International Journal Of Molecular Sciences

Park, Jae-Ho JH; Kho, Changwon C

Publication Date: 2021-09-30

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 34638924

Variant Present in the following documents:

• Main text
• ijms-22-10582.pdf

View BVdb publication page

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FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International Journal Of Molecular Sciences

Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C

Publication Date: 2021-07-27

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 34360805

Variant Present in the following documents:

• Main text
• ijms-22-08039.pdf

View BVdb publication page

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Impaired Right Ventricular Calcium Cycling Is an Early Risk Factor in R14del-Phospholamban Arrhythmias.

Journal Of Personalized Medicine

Haghighi, Kobra K; Gardner, George G; Vafiadaki, Elizabeth E; Kumar, Mohit M; Green, Lisa C LC; Ma, Jianyong J; Crocker, Jeffrey S JS; Koch, Sheryl S; Arvanitis, Demetrios A DA; Bidwell, Phillip P; Rubinstein, Jack J; van de Leur, Rutger R; Doevendans, Pieter A PA; Akar, Fadi G FG; Tranter, Michael M; Wang, Hong-Sheng HS; Sadayappan, Sakthivel S; DeMazumder, Deeptankar D; Sanoudou, Despina D; Hajjar, Roger J RJ; Stillitano, Francesca F; Kranias, Evangelia G EG

Publication Date: 2021-06-03

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 34204946

Variant Present in the following documents:

• jpm-11-00502.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: HRC: 286T>G; S96A; rs3745297

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: HRC: 286T>G; Ser96Ala; rs3745297

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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Genetics of atrial fibrillation-practical applications for clinical management: if not now, when and how?

Cardiovascular Research

Kany, Shinwan S; Reissmann, Bruno B; Metzner, Andreas A; Kirchhof, Paulus P; Darbar, Dawood D; Schnabel, Renate B RB

Publication Date: 2021-06-16

Variant appearance in text: HRC: Ser96Ala; rs3745297

PubMed Link: 33982075

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: HRC: Ser96Ala; rs3745297

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: HRC: 286T>G; S96A; rs3745297

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: HRC: S96A

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Sarcoplasmic reticulum calcium mishandling: central tenet in heart failure?

Biophysical Reviews

Denniss, Amanda L AL; Dashwood, Alexander M AM; Molenaar, Peter P; Beard, Nicole A NA

Publication Date: 2020-08

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 32696300

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: HRC: S96A

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_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: HRC: S96A

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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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: HRC: S96A

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Thinking outside of the cell: Secreted protein kinases in bacteria, parasites, and mammals.

Iubmb Life

Park, Brenden C BC; Reese, Michael M; Tagliabracci, Vincent S VS

Publication Date: 2019-06

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 30941842

Variant Present in the following documents:

• Main text

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: HRC: S96A; rs3745297

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 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 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

View BVdb publication page

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Ser96Ala genetic variant of the human histidine-rich calcium-binding protein is a genetic predictor of recurrence after catheter ablation in patients with paroxysmal atrial fibrillation.

Plos One

Amioka, Michitaka M; Nakano, Yukiko Y; Ochi, Hidenori H; Onohara, Yuko Y; Sairaku, Akinori A; Tokuyama, Takehito T; Motoda, Chikaaki C; Matsumura, Hiroya H; Tomomori, Shunsuke S; Hironobe, Naoya N; Okubo, Yousaku Y; Okamura, Sho S; Chayama, Kazuaki K; Kihara, Yasuki Y

Publication Date: 2019

Variant appearance in text: HRC: Ser96Ala; rs3745297

PubMed Link: 30840693

Variant Present in the following documents:

• Main text
• pone.0213208.pdf

View BVdb publication page

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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: HRC: 286T>G; Ser96Ala; rs3745297

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
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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A secretory pathway kinase regulates sarcoplasmic reticulum Ca2+ homeostasis and protects against heart failure.

Elife

Pollak, Adam J AJ; Liu, Canzhao C; Gudlur, Aparna A; Mayfield, Joshua E JE; Dalton, Nancy D ND; Gu, Yusu Y; Chen, Ju J; Heller Brown, Joan J; Hogan, Patrick G PG; Wiley, Sandra E SE; Peterson, Kirk L KL; Dixon, Jack E JE

Publication Date: 2018-12-06

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 30520731

Variant Present in the following documents:

• Main text
• elife-41378.pdf

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: HRC: S96A; rs3745297

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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The Histidine-Rich Calcium Binding Protein in Regulation of Cardiac Rhythmicity.

Frontiers In Physiology

Arvanitis, Demetrios A DA; Vafiadaki, Elizabeth E; Johnson, Daniel M DM; Kranias, Evangelia G EG; Sanoudou, Despina D

Publication Date: 2018

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 30319456

Variant Present in the following documents:

• Main text
• fphys-09-01379.pdf

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: HRC: S96A; rs3745297

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

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: HRC: S96A; rs3745297

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Control of cardiac ryanodine receptor by sarcoplasmic reticulum luminal Ca2.

The Journal Of General Physiology

Jones, Peter P PP; Guo, Wenting W; Chen, S R Wayne SRW

Publication Date: 2017-09-04

Variant appearance in text: HRC: S96A

PubMed Link: 28798281

Variant Present in the following documents:

• JGP_201711805.pdf

View BVdb publication page

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Phosphorylation of serine96 of histidine-rich calcium-binding protein by the Fam20C kinase functions to prevent cardiac arrhythmia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Pollak, Adam J AJ; Haghighi, Kobra K; Kunduri, Swati S; Arvanitis, Demetrios A DA; Bidwell, Philip A PA; Liu, Guan-Sheng GS; Singh, Vivek P VP; Gonzalez, David J DJ; Sanoudou, Despina D; Wiley, Sandra E SE; Dixon, Jack E JE; Kranias, Evangelia G EG

Publication Date: 2017-08-22

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 28784772

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3745297

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Calcium Signaling and Cardiac Arrhythmias.

Circulation Research

Landstrom, Andrew P AP; Dobrev, Dobromir D; Wehrens, Xander H T XHT

Publication Date: 2017-06-09

Variant appearance in text: HRC: S96A

PubMed Link: 28596175

Variant Present in the following documents:

• Main text

View BVdb publication page

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RyR2 QQ2958 Genotype and Risk of Malignant Ventricular Arrhythmias.

Cardiology Research And Practice

Galati, Francesca F; Galati, Antonio A; Massari, Serafina S

Publication Date: 2016

Variant appearance in text: HRC: S96A; rs3745297

PubMed Link: 26904356

Variant Present in the following documents:

• Main text
• CRP2016-2868604.pdf

View BVdb publication page

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Exome sequencing reveals genetic differentiation due to high-altitude adaptation in the Tibetan cashmere goat (Capra hircus).

Bmc Genomics

Song, Shen S; Yao, Na N; Yang, Min M; Liu, Xuexue X; Dong, Kunzhe K; Zhao, Qianjun Q; Pu, Yabin Y; He, Xiaohong X; Guan, Weijun W; Yang, Ning N; Ma, Yuehui Y; Jiang, Lin L

Publication Date: 2016-02-18

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 26892324

Variant Present in the following documents:

• 12864_2016_2449_MOESM5_ESM.xlsx, sheet 1

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: rs3745297

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: HRC: S96A; rs3745297

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.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: HRC: S96A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: HRC: S96A; rs3745297

PubMed Link: 25944692

Variant Present in the following documents:

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

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Altered myocardial calcium cycling and energetics in heart failure--a rational approach for disease treatment.

Cell Metabolism

Gorski, Przemek A PA; Ceholski, Delaine K DK; Hajjar, Roger J RJ

Publication Date: 2015-02-03

Variant appearance in text: HRC: S96A

PubMed Link: 25651173

Variant Present in the following documents:

• Main text

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Variant allele frequency enrichment analysis in vitro reveals sonic hedgehog pathway to impede sustained temozolomide response in GBM.

Scientific Reports

Biswas, Nidhan K NK; Chandra, Vikas V; Sarkar-Roy, Neeta N; Das, Tapojyoti T; Bhattacharya, Rabindra N RN; Tripathy, Laxmi N LN; Basu, Sunandan K SK; Kumar, Shantanu S; Das, Subrata S; Chatterjee, Ankita A; Mukherjee, Ankur A; Basu, Pryiadarshi P; Maitra, Arindam A; Chattopadhyay, Ansuman A; Basu, Analabha A; Dhara, Surajit S

Publication Date: 2015-01-21

Variant appearance in text: HRC: 286T>G; S96A

PubMed Link: 25604826

Variant Present in the following documents:

• srep07915-s1.pdf

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Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend.

Journal Of Molecular And Cellular Cardiology

Haghighi, Kobra K; Bidwell, Philip P; Kranias, Evangelia G EG

Publication Date: 2014-12

Variant appearance in text: HRC: Ser96Ala

PubMed Link: 25451386

Variant Present in the following documents:

• Main text

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: HRC: S96A; rs3745297

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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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: HRC: S96A; rs3745297

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25

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