PAPPA c.3671C>A ;(p.S1224Y)

Variant ID: 9-119106881-C-A

NM_002581.3(PAPPA):c.3671C>A;(p.S1224Y)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


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: PAPPA: S1224Y
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



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

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: PAPPA: 3671C>A; Ser1224Tyr
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



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: PAPPA: S1224Y
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Structure of the PAPP-ABP5 complex reveals mechanism of substrate recognition.

Nature Communications
Judge, Russell A RA; Sridar, Janani J; Tunyasuvunakool, Kathryn K; Jain, Rinku R; Wang, John C K JCK; Ouch, Christna C; Xu, Jun J; Mafi, Amirhossein A; Nile, Aaron H AH; Remarcik, Clint C; Smith, Corey L CL; Ghosh, Crystal C; Xu, Chen C; Stoll, Vincent V; Jumper, John J; Singh, Amoolya H AH; Eaton, Dan D; Hao, Qi Q
Publication Date: 2022-09-20

Variant appearance in text: rs7020782
PubMed Link: 36127359
Variant Present in the following documents:
  • Main text
  • 41467_2022_33175_MOESM1_ESM.pdf
  • 41467_2022_Article_33175.pdf
View BVdb publication page



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: PAPPA: S1224Y
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.

Nature Genetics
Jurgens, Sean J SJ; Choi, Seung Hoan SH; Morrill, Valerie N VN; Chaffin, Mark M; Pirruccello, James P JP; Halford, Jennifer L JL; Weng, Lu-Chen LC; Nauffal, Victor V; Roselli, Carolina C; Hall, Amelia W AW; Oetjens, Matthew T MT; Lagerman, Braxton B; vanMaanen, David P DP; , ; Aragam, Krishna G KG; Lunetta, Kathryn L KL; Haggerty, Christopher M CM; Lubitz, Steven A SA; Ellinor, Patrick T PT
Publication Date: 2022-03

Variant appearance in text: PAPPA: Ser1224Tyr
PubMed Link: 35177841
Variant Present in the following documents:
  • NIHMS1766777-supplement-Supplementary_Information.pdf
View BVdb publication page



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: PAPPA: S1224Y
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



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: PAPPA: 3671C>A; S1224Y; rs7020782
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: PAPPA: 3671C>A; Ser1224Tyr; rs7020782
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



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: PAPPA: Ser1224Tyr; rs7020782
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: PAPPA: 3671C>A; S1224Y; rs7020782
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



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

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: PAPPA: 3671C>A; S1224Y; rs7020782
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



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: PAPPA: S1224Y
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: PAPPA: S1224Y; rs7020782
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A common variant of the pregnancy-associated plasma protein-A (PAPPA) gene encodes a protein with reduced proteolytic activity towards IGF-binding proteins.

Scientific Reports
Bøtkjær, Jane Alrø JA; Noer, Pernille Rimmer PR; Oxvig, Claus C; Yding Andersen, Claus C
Publication Date: 2019-09-13

Variant appearance in text: rs7020782
PubMed Link: 31519945
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49626.pdf
View BVdb publication page



PAPP-A and the IGF system in atherosclerosis: what's up, what's down?

American Journal Of Physiology. Heart And Circulatory Physiology
Steffensen, Lasse B LB; Conover, Cheryl A CA; Oxvig, Claus C
Publication Date: 2019-11-01

Variant appearance in text: rs7020782
PubMed Link: 31518159
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



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: rs7020782
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



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

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: PAPPA: S1224Y
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: PAPPA: 3671C>A; Ser1224Tyr; rs7020782
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.

Cells
Zaragoza, Michael V MV; Nguyen, Cecilia H H CHH; Widyastuti, Halida P HP; McCarthy, Linda A LA; Grosberg, Anna A
Publication Date: 2017-11-01

Variant appearance in text: PAPPA: 3671C>A; Ser1224Tyr
PubMed Link: 29104234
Variant Present in the following documents:
  • cells-06-00040-s001.pdf
View BVdb publication page



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: rs7020782
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The Immunosignature of Mother/Fetus Couples in Gestational Diabetes Mellitus: Role of HLA-G 14 bp ins/del and PAPP-A A/C Polymorphisms in the Uterine Inflammatory Milieu.

Disease Markers
Martinetti, Miryam M; Beneventi, Fausta F; Capittini, Cristina C; Locatelli, Elena E; Simonetta, Margherita M; Cavagnoli, Chiara C; De Maggio, Irene I; De Silvestri, Annalisa A; Pasi, Annamaria A; Spinillo, Arsenio A
Publication Date: 2017

Variant appearance in text: rs7020782
PubMed Link: 28655969
Variant Present in the following documents:
  • Main text
  • DM2017-4254750.pdf
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



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: rs7020782
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: PAPPA: S1224Y; rs7020782
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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: PAPPA: S1224Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Correlation of single nucleotide polymorphisms in the pregnancy-associated plasma protein-A gene with carotid plaques.

Bmc Cardiovascular Disorders
Zhou, Shiming S; Cui, Min M; Yin, Zegang Z; Li, Rui R; Zhu, Jie J; Zhou, Huadong H
Publication Date: 2015-06-30

Variant appearance in text: rs7020782
PubMed Link: 26122709
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PAPPA: S1224Y; rs7020782
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: PAPPA: S1224Y; rs7020782
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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Genetic relationship between serum pregnancy-associated plasma protein-A gene polymorphism and ischemic cerebrovascular disease in a Northern Han Chinese population.

Neural Regeneration Research
Wang, Haiping H; Song, Yan Y; Zhang, Chen C; Zhan, Jingjing J; Zhang, Rui R; Wang, Haiji H
Publication Date: 2012-03-05

Variant appearance in text: rs7020782
PubMed Link: 25745440
Variant Present in the following documents:
  • Main text
  • NRR-7-528.pdf
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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: PAPPA: S1224Y; rs7020782
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: PAPPA: S1224Y
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
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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: PAPPA: S1224Y; rs7020782
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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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: rs7020782
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Publication Date: 2011-01-07

Variant appearance in text: rs7020782
PubMed Link: 21194676
Variant Present in the following documents:
  • Main text
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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

American Journal Of Human Genetics
Frosk, Patrick P; Weiler, Tracey T; Nylen, Edward E; Sudha, Thangirala T; Greenberg, Cheryl R CR; Morgan, Kenneth K; Fujiwara, T Mary TM; Wrogemann, Klaus K
Publication Date: 2002-03

Variant appearance in text:
PubMed Link: 11822024
Variant Present in the following documents:
  • Main text
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