Publications:

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Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses.

Frontiers In Endocrinology

Mansour, Afnan A; Mousa, Mira M; Abdelmannan, Dima D; Tay, Guan G; Hassoun, Ahmed A; Alsafar, Habiba H

Publication Date: 2023

Variant appearance in text: rs1799999

PubMed Link: 37033211

Variant Present in the following documents:

• Main text
• fendo-14-1143067.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: PPP1R3A: D905Y

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

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: PPP1R3A: D905Y

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_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: PPP1R3A: D905Y

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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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: PPP1R3A: 2713G>T; D905Y; rs1799999

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Plos One

Goto, Kosuke K; Mineta, Katsuhiko K; Miyazaki, Satoru S; Gojobori, Takashi T

Publication Date: 2021

Variant appearance in text: PPP1R3A: 2713G>T; Asp905Tyr; rs1799999

PubMed Link: 33848288

Variant Present in the following documents:

• Main text
• pone.0249226.pdf

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: PPP1R3A: Asp905Tyr; rs1799999

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs1799999

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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Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances

Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV

Publication Date: 2020-12

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 33298453

Variant Present in the following documents:

• abe3722_Table_S3.xlsx, sheet 2

View BVdb publication page

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A Genome-Wide Association Study in Early COPD: Identification of One Major Susceptibility Loci.

International Journal Of Chronic Obstructive Pulmonary Disease

Lee, Ye-Jin YJ; Choi, SeungHo S; Kwon, Sung-Youn SY; Lee, Yunhwan Y; Lee, Jung Kyu JK; Heo, Eun Young EY; Chung, Hee Soon HS; Kim, Deog Kyeom DK

Publication Date: 2020

Variant appearance in text: rs1799999

PubMed Link: 33235445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of the association between adiponectin SNP 45, SNP 276, and type 2 diabetes mellitus.

Plos One

Dong, Yuwei Y; Huang, Gongping G; Wang, Xin X; Chu, Zhaoming Z; Miao, Jingzhi J; Zhou, Houwen H

Publication Date: 2020

Variant appearance in text: rs1799999

PubMed Link: 33091065

Variant Present in the following documents:

• pone.0241078.pdf

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: PPP1R3A: D905Y; rs1799999

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.

Journal Of Clinical And Experimental Hepatology

Koshy, Abraham A; Mukkada, Roy J RJ; Chettupuzha, Antony P AP; Francis, Jose V JV; Kandathil, Julio C JC; Mahadevan, Pushpa P

Publication Date: 2020

Variant appearance in text: PPP1R3A: Asp905Tyr

PubMed Link: 32189932

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: PPP1R3A: 2713G>T; D905Y; rs1799999

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_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: PPP1R3A: D905Y; rs1799999

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.

Nature Communications

Petti, Allegra A AA; Williams, Stephen R SR; Miller, Christopher A CA; Fiddes, Ian T IT; Srivatsan, Sridhar N SN; Chen, David Y DY; Fronick, Catrina C CC; Fulton, Robert S RS; Church, Deanna M DM; Ley, Timothy J TJ

Publication Date: 2019-08-14

Variant appearance in text: PPP1R3A: D905Y

PubMed Link: 31413257

Variant Present in the following documents:

• 41467_2019_11591_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association of metabolism-related genes polymorphisms with adenocarcinoma of the oesophagogastric junction: Evidence from 2261 subjects.

Journal Of Cellular Biochemistry

Tang, Weifeng W; Liu, Jun J; Zhong, Zhihui Z; Qiu, Hao H; Kang, Mingqiang M

Publication Date: 2019-11

Variant appearance in text: rs1799999

PubMed Link: 31211453

Variant Present in the following documents:

• JCB-120-18689.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: PPP1R3A: D905Y; rs1799999

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: rs1799999

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Scientific Reports

Vidal, Elena A EA; Moyano, Tomás C TC; Bustos, Bernabé I BI; Pérez-Palma, Eduardo E; Moraga, Carol C; Riveras, Eleodoro E; Montecinos, Alejandro A; Azócar, Lorena L; Soto, Daniela C DC; Vidal, Mabel M; Di Genova, Alex A; Puschel, Klaus K; Nürnberg, Peter P; Buch, Stephan S; Hampe, Jochen J; Allende, Miguel L ML; Cambiazo, Verónica V; González, Mauricio M; Hodar, Christian C; Montecino, Martín M; Muñoz-Espinoza, Claudia C; Orellana, Ariel A; Reyes-Jara, Angélica A; Travisany, Dante D; Vizoso, Paula P; Moraga, Mauricio M; Eyheramendy, Susana S; Maass, Alejandro A; De Ferrari, Giancarlo V GV; Miquel, Juan Francisco JF; Gutiérrez, Rodrigo A RA

Publication Date: 2019-02-14

Variant appearance in text: rs1799999

PubMed Link: 30765821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry

Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y

Publication Date: 2019-01-31

Variant appearance in text: rs1799999

PubMed Link: 30705251

Variant Present in the following documents:

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: PPP1R3A: D905Y; rs1799999

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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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: PPP1R3A: D905Y; rs1799999

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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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PPP1R3A: 2713G>T; Asp905Tyr; rs1799999

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports

Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL

Publication Date: 2018-08-21

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 30134176

Variant Present in the following documents:

• NIHMS1520774-supplement-Table_S2.xlsx, sheet 1

View BVdb publication page

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Association between genetic risk variants and glucose intolerance during pregnancy in north Indian women.

Bmc Medical Genomics

Arora, Geeti P GP; Almgren, Peter P; Brøns, Charlotte C; Thaman, Richa G RG; Vaag, Allan A AA; Groop, Leif L; Prasad, Rashmi B RB

Publication Date: 2018-08-08

Variant appearance in text: rs1799999

PubMed Link: 30089489

Variant Present in the following documents:

• Main text
• 12920_2018_Article_380.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: PPP1R3A: 2713G>T; D905Y; rs1799999

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

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: PPP1R3A: D905Y; rs1799999

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics

Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C

Publication Date: 2017-08-03

Variant appearance in text: rs1799999

PubMed Link: 28757201

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

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: rs1799999

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: rs1799999

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: PPP1R3A: D905Y; rs1799999

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

---

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: PPP1R3A: D905Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: PPP1R3A: D905Y; rs1799999

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs1799999

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

Plos One

Rodriguez-Flores, Juan L JL; Fuller, Jennifer J; Hackett, Neil R NR; Salit, Jacqueline J; Malek, Joel A JA; Al-Dous, Eman E; Chouchane, Lotfi L; Zirie, Mahmoud M; Jayoussi, Amin A; Mahmoud, Mai A MA; Crystal, Ronald G RG; Mezey, Jason G JG

Publication Date: 2012

Variant appearance in text: PPP1R3A: Asp905Tyr

PubMed Link: 23139751

Variant Present in the following documents:

• Main text
• pone.0047614.pdf
• pone.0047614.s009.pdf

View BVdb publication page

---

The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population.

Plos One

Rai, Ekta E; Sharma, Swarkar S; Kaul, Surabhi S; Jain, Kamal K; Matharoo, Kawaljit K; Bhanwer, Amarjit S AS; Bamezai, Rameshwar N K RN

Publication Date: 2012

Variant appearance in text: PPP1R3: Asp905Tyr; rs1799999

PubMed Link: 23133645

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PPP1R3A: D905Y; rs1799999

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.

Human Mutation

Srinivasan, Balaji S BS; Doostzadeh, Jaleh J; Absalan, Farnaz F; Mohandessi, Sharareh S; Jalili, Roxana R; Bigdeli, Saharnaz S; Wang, Justin J; Mahadevan, Jaydev J; Lee, Caroline L G CL; Davis, Ronald W RW; William Langston, J J; Ronaghi, Mostafa M

Publication Date: 2009-02

Variant appearance in text: rs1799999

PubMed Link: 18853455

Variant Present in the following documents:

• Main text
• humu0030-0228.pdf

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Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

Plos Biology

Barroso, Inês I; Luan, Jian'an J; Middelberg, Rita P S RP; Harding, Anne-Helen AH; Franks, Paul W PW; Jakes, Rupert W RW; Clayton, D D; Schafer, Alan J AJ; O'Rahilly, Stephen S; Wareham, Nicholas J NJ

Publication Date: 2003-10

Variant appearance in text: PPP1R3A: D905Y

PubMed Link: 14551916

Variant Present in the following documents:

• Main text
• pbio.0000020.st001.xls, sheet 1
• pbio.0000020.pdf

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Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease.

Journal Of Neurology, Neurosurgery, And Psychiatry

Liolitsa, D D; Powell, J J; Lovestone, S S

Publication Date: 2002-09

Variant appearance in text: PPP1R3: Asp905Tyr

PubMed Link: 12185156

Variant Present in the following documents:

• Main text

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