ITIH1 c.1784A>G ;(p.Q595R)

Variant ID: 3-52821011-A-G

NM_002215.3(ITIH1):c.1784A>G;(p.Q595R)

This variant was identified in 45 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: ITIH1: Q595R
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



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: rs1042779
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ITIH1: Q595R
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
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: ITIH1: Q595R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications
Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K
Publication Date: 2022-03-24

Variant appearance in text: ITIH1: Gln595Arg
PubMed Link: 35332129
Variant Present in the following documents:
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: ITIH1: Q595R
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, 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: ITIH1: Q595R; rs1042779
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: ITIH1: Q595R; rs1042779
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
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: ITIH1: Q595R; rs1042779
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: ITIH1: Q595R
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: ITIH1: 1784A>G; Q595R; rs1042779
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



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: ITIH1: Q595R
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_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: ITIH1: Q595R; rs1042779
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
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: rs1042779
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
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: rs1042779
PubMed Link: 30814510
Variant Present in the following documents:
  • 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: ITIH1: Q595R
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.

Molecular Psychiatry
Amare, Azmeraw T AT; Vaez, Ahmad A; Hsu, Yi-Hsiang YH; Direk, Nese N; Kamali, Zoha Z; Howard, David M DM; McIntosh, Andrew M AM; Tiemeier, Henning H; Bültmann, Ute U; Snieder, Harold H; Hartman, Catharina A CA
Publication Date: 2020-07

Variant appearance in text: rs1042779
PubMed Link: 30626913
Variant Present in the following documents:
  • Main text
  • 41380_2018_Article_336.pdf
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: ITIH1: Q595R; rs1042779
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: ITIH1: 1784A>G; Gln595Arg
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
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: ITIH1: Q595R; rs1042779
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: ITIH1: 1784A>G; Gln595Arg; rs1042779
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04

Variant appearance in text: ITIH1: Q595R; rs1042779
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1
View BVdb publication page



PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods
Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ
Publication Date: 2017-09

Variant appearance in text: rs1042779
PubMed Link: 28783153
Variant Present in the following documents:
  • NIHMS893716-supplement-2.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: rs1042779
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of long non-coding RNAs involved in neuronal development and intellectual disability.

Scientific Reports
D'haene, Eva E; Jacobs, Eva Z EZ; Volders, Pieter-Jan PJ; De Meyer, Tim T; Menten, Björn B; Vergult, Sarah S
Publication Date: 2016-06-20

Variant appearance in text: rs1042779
PubMed Link: 27319317
Variant Present in the following documents:
  • srep28396-s1.pdf
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs1042779
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Tanisawa, Kumpei K; Arai, Yasumichi Y; Hirose, Nobuyoshi N; Shimokata, Hiroshi H; Yamada, Yoshiji Y; Kawai, Hisashi H; Kojima, Motonaga M; Obuchi, Shuichi S; Hirano, Hirohiko H; Yoshida, Hideyo H; Suzuki, Hiroyuki H; Fujiwara, Yoshinori Y; Ihara, Kazushige K; Sugaya, Maki M; Arai, Tomio T; Mori, Seijiro S; Sawabe, Motoji M; Sato, Noriko N; Muramatsu, Masaaki M; Higuchi, Mitsuru M; Liu, Yao-Wen YW; Kong, Qing-Peng QP; Tanaka, Masashi M
Publication Date: 2017-03-01

Variant appearance in text: ITIH1: Q595R; rs1042779
PubMed Link: 27154906
Variant Present in the following documents:
  • glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx, sheet 3
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: rs1042779
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: ITIH1: Q595R; rs1042779
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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: ITIH1: Q595R; rs1042779
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.

Bioinformatics (Oxford, England)
Lee, Donghyung D; Williamson, Vernell S VS; Bigdeli, T Bernard TB; Riley, Brien P BP; Fanous, Ayman H AH; Vladimirov, Vladimir I VI; Bacanu, Silviu-Alin SA
Publication Date: 2015-04-15

Variant appearance in text: rs1042779
PubMed Link: 25505091
Variant Present in the following documents:
  • Main text
  • btu816.pdf
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: ITIH1: Q595R; rs1042779
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
Denny, Joshua C JC; Bastarache, Lisa L; Ritchie, Marylyn D MD; Carroll, Robert J RJ; Zink, Raquel R; Mosley, Jonathan D JD; Field, Julie R JR; Pulley, Jill M JM; Ramirez, Andrea H AH; Bowton, Erica E; Basford, Melissa A MA; Carrell, David S DS; Peissig, Peggy L PL; Kho, Abel N AN; Pacheco, Jennifer A JA; Rasmussen, Luke V LV; Crosslin, David R DR; Crane, Paul K PK; Pathak, Jyotishman J; Bielinski, Suzette J SJ; Pendergrass, Sarah A SA; Xu, Hua H; Hindorff, Lucia A LA; Li, Rongling R; Manolio, Teri A TA; Chute, Christopher G CG; Chisholm, Rex L RL; Larson, Eric B EB; Jarvik, Gail P GP; Brilliant, Murray H MH; McCarty, Catherine A CA; Kullo, Iftikhar J IJ; Haines, Jonathan L JL; Crawford, Dana C DC; Masys, Daniel R DR; Roden, Dan M DM
Publication Date: 2013-12

Variant appearance in text: rs1042779
PubMed Link: 24270849
Variant Present in the following documents:
  • Main text
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: ITIH1: Q595R; rs1042779
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Evidence for single nucleotide polymorphisms and their association with bipolar disorder.

Neuropsychiatric Disease And Treatment
Szczepankiewicz, Aleksandra A
Publication Date: 2013

Variant appearance in text: rs1042779
PubMed Link: 24143106
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Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders: a genetic association study.

Plos One
Kondo, Kenji K; Ikeda, Masashi M; Kajio, Yusuke Y; Saito, Takeo T; Iwayama, Yoshimi Y; Aleksic, Branko B; Yamada, Kazuo K; Toyota, Tomoko T; Hattori, Eiji E; Ujike, Hiroshi H; Inada, Toshiya T; Kunugi, Hiroshi H; Kato, Tadafumi T; Yoshikawa, Takeo T; Ozaki, Norio N; Iwata, Nakao N
Publication Date: 2013

Variant appearance in text: rs1042779
PubMed Link: 23967141
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  • pone.0070964.pdf
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A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biological Psychiatry
, ; , ; Bramon, Elvira E; Pirinen, Matti M; Strange, Amy A; Lin, Kuang K; Freeman, Colin C; Bellenguez, Céline C; Su, Zhan Z; Band, Gavin G; Pearson, Richard R; Vukcevic, Damjan D; Langford, Cordelia C; Deloukas, Panos P; Hunt, Sarah S; Gray, Emma E; Dronov, Serge S; Potter, Simon C SC; Tashakkori-Ghanbaria, Avazeh A; Edkins, Sarah S; Bumpstead, Suzannah J SJ; Arranz, Maria J MJ; Bakker, Steven S; Bender, Stephan S; Bruggeman, Richard R; Cahn, Wiepke W; Chandler, David D; Collier, David A DA; Crespo-Facorro, Benedicto B; Dazzan, Paola P; de Haan, Lieuwe L; Di Forti, Marta M; Dragović, Milan M; Giegling, Ina I; Hall, Jeremy J; Iyegbe, Conrad C; Jablensky, Assen A; Kahn, René S RS; Kalaydjieva, Luba L; Kravariti, Eugenia E; Lawrie, Stephen S; Linszen, Don H DH; Mata, Ignacio I; McDonald, Colm C; McIntosh, Andrew A; Myin-Germeys, Inez I; Ophoff, Roel A RA; Pariante, Carmine M CM; Paunio, Tiina T; Picchioni, Marco M; , ; Ripke, Stephan S; Rujescu, Dan D; Sauer, Heinrich H; Shaikh, Madiha M; Sussmann, Jessika J; Suvisaari, Jaana J; Tosato, Sarah S; Toulopoulou, Timothea T; Van Os, Jim J; Walshe, Muriel M; Weisbrod, Matthias M; Whalley, Heather H; Wiersma, Durk D; Blackwell, Jenefer M JM; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Duncanson, Audrey A; Jankowski, Janusz A Z JA; Markus, Hugh S HS; Mathew, Christopher G CG; Palmer, Colin N A CN; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Trembath, Richard C RC; Wood, Nicholas W NW; Barroso, Ines I; Peltonen, Leena L; Lewis, Cathryn M CM; Murray, Robin M RM; Donnelly, Peter P; Powell, John J; Spencer, Chris C A CC
Publication Date: 2014-03-01

Variant appearance in text: rs1042779
PubMed Link: 23871474
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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: rs1042779
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

Lancet (London, England)
,
Publication Date: 2013-04-20

Variant appearance in text: rs1042779
PubMed Link: 23453885
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Genetic variant representation, annotation and prioritization in the post-GWAS era.

Cell Research
Li, Mulin Jun MJ; Sham, Pak Chung PC; Wang, Junwen J
Publication Date: 2012-10

Variant appearance in text: rs1042779
PubMed Link: 22801476
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A mega-analysis of genome-wide association studies for major depressive disorder.

Molecular Psychiatry
, ; Ripke, Stephan S; Wray, Naomi R NR; Lewis, Cathryn M CM; Hamilton, Steven P SP; Weissman, Myrna M MM; Breen, Gerome G; Byrne, Enda M EM; Blackwood, Douglas H R DH; Boomsma, Dorret I DI; Cichon, Sven S; Heath, Andrew C AC; Holsboer, Florian F; Lucae, Susanne S; Madden, Pamela A F PA; Martin, Nicholas G NG; McGuffin, Peter P; Muglia, Pierandrea P; Noethen, Markus M MM; Penninx, Brenda P BP; Pergadia, Michele L ML; Potash, James B JB; Rietschel, Marcella M; Lin, Danyu D; Müller-Myhsok, Bertram B; Shi, Jianxin J; Steinberg, Stacy S; Grabe, Hans J HJ; Lichtenstein, Paul P; Magnusson, Patrik P; Perlis, Roy H RH; Preisig, Martin M; Smoller, Jordan W JW; Stefansson, Kari K; Uher, Rudolf R; Kutalik, Zoltan Z; Tansey, Katherine E KE; Teumer, Alexander A; Viktorin, Alexander A; Barnes, Michael R MR; Bettecken, Thomas T; Binder, Elisabeth B EB; Breuer, René R; Castro, Victor M VM; Churchill, Susanne E SE; Coryell, William H WH; Craddock, Nick N; Craig, Ian W IW; Czamara, Darina D; De Geus, Eco J EJ; Degenhardt, Franziska F; Farmer, Anne E AE; Fava, Maurizio M; Frank, Josef J; Gainer, Vivian S VS; Gallagher, Patience J PJ; Gordon, Scott D SD; Goryachev, Sergey S; Gross, Magdalena M; Guipponi, Michel M; Henders, Anjali K AK; Herms, Stefan S; Hickie, Ian B IB; Hoefels, Susanne S; Hoogendijk, Witte W; Hottenga, Jouke Jan JJ; Iosifescu, Dan V DV; Ising, Marcus M; Jones, Ian I; Jones, Lisa L; Jung-Ying, Tzeng T; Knowles, James A JA; Kohane, Isaac S IS; Kohli, Martin A MA; Korszun, Ania A; Landen, Mikael M; Lawson, William B WB; Lewis, Glyn G; Macintyre, Donald D; Maier, Wolfgang W; Mattheisen, Manuel M; McGrath, Patrick J PJ; McIntosh, Andrew A; McLean, Alan A; Middeldorp, Christel M CM; Middleton, Lefkos L; Montgomery, Grant M GM; Murphy, Shawn N SN; Nauck, Matthias M; Nolen, Willem A WA; Nyholt, Dale R DR; O'Donovan, Michael M; Oskarsson, Högni H; Pedersen, Nancy N; Scheftner, William A WA; Schulz, Andrea A; Schulze, Thomas G TG; Shyn, Stanley I SI; Sigurdsson, Engilbert E; Slager, Susan L SL; Smit, Johannes H JH; Stefansson, Hreinn H; Steffens, Michael M; Thorgeirsson, Thorgeir T; Tozzi, Federica F; Treutlein, Jens J; Uhr, Manfred M; van den Oord, Edwin J C G EJ; Van Grootheest, Gerard G; Völzke, Henry H; Weilburg, Jeffrey B JB; Willemsen, Gonneke G; Zitman, Frans G FG; Neale, Benjamin B; Daly, Mark M; Levinson, Douglas F DF; Sullivan, Patrick F PF
Publication Date: 2013-04

Variant appearance in text: rs1042779
PubMed Link: 22472876
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Database of genetic studies of bipolar disorder.

Psychiatric Genetics
Piletz, John E JE; Zhang, Xiaotong X; Ranade, Rajdeep R; Liu, Chunyu C
Publication Date: 2011-04

Variant appearance in text: rs1042779
PubMed Link: 21085053
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New findings in the genetics of major psychoses.

Dialogues In Clinical Neuroscience
Nöthen, Markus M MM; Nieratschker, Vanessa V; Cichon, Sven S; Rietschel, Marcella M
Publication Date: 2010

Variant appearance in text: rs1042779
PubMed Link: 20373670
Variant Present in the following documents:
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  • DialoguesClinNeurosci-12-85.pdf
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Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.

Nature Genetics
McMahon, Francis J FJ; Akula, Nirmala N; Schulze, Thomas G TG; Muglia, Pierandrea P; Tozzi, Federica F; Detera-Wadleigh, Sevilla D SD; Steele, C J M CJ; Breuer, René R; Strohmaier, Jana J; Wendland, Jens R JR; Mattheisen, Manuel M; Mühleisen, Thomas W TW; Maier, Wolfgang W; Nöthen, Markus M MM; Cichon, Sven S; Farmer, Anne A; Vincent, John B JB; Holsboer, Florian F; Preisig, Martin M; Rietschel, Marcella M; ,
Publication Date: 2010-02

Variant appearance in text: rs1042779
PubMed Link: 20081856
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Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Scott, Laura J LJ; Muglia, Pierandrea P; Kong, Xiangyang Q XQ; Guan, Weihua W; Flickinger, Matthew M; Upmanyu, Ruchi R; Tozzi, Federica F; Li, Jun Z JZ; Burmeister, Margit M; Absher, Devin D; Thompson, Robert C RC; Francks, Clyde C; Meng, Fan F; Antoniades, Athos A; Southwick, Audrey M AM; Schatzberg, Alan F AF; Bunney, William E WE; Barchas, Jack D JD; Jones, Edward G EG; Day, Richard R; Matthews, Keith K; McGuffin, Peter P; Strauss, John S JS; Kennedy, James L JL; Middleton, Lefkos L; Roses, Allen D AD; Watson, Stanley J SJ; Vincent, John B JB; Myers, Richard M RM; Farmer, Ann E AE; Akil, Huda H; Burns, Daniel K DK; Boehnke, Michael M
Publication Date: 2009-05-05

Variant appearance in text: rs1042779
PubMed Link: 19416921
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