TMEM79 c.439G>A ;(p.V147M)

Variant ID: 1-156255456-G-A

NM_032323.2(TMEM79):c.439G>A;(p.V147M)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Investigating the association between glycaemic traits and colorectal cancer in the Japanese population using Mendelian randomisation.

Scientific Reports
Hanyuda, Akiko A; Goto, Atsushi A; Katagiri, Ryoko R; Koyanagi, Yuriko N YN; Nakatochi, Masahiro M; Sutoh, Yoichi Y; Nakano, Shiori S; Oze, Isao I; Ito, Hidemi H; Yamaji, Taiki T; Sawada, Norie N; Iwagami, Masao M; Kadota, Aya A; Koyama, Teruhide T; Katsuura-Kamano, Sakurako S; Ikezaki, Hiroaki H; Tanaka, Keitaro K; Takezaki, Toshiro T; Imoto, Issei I; Suzuki, Midori M; Momozawa, Yukihide Y; Takeuchi, Kenji K; Narita, Akira A; Hozawa, Atsushi A; Kinoshita, Kengo K; Shimizu, Atsushi A; Tanno, Kozo K; Matsuo, Keitaro K; Tsugane, Shoichiro S; Wakai, Kenji K; Sasaki, Makoto M; Yamamoto, Masayuki M; Iwasaki, Motoki M
Publication Date: 2023-04-29

Variant appearance in text: rs6684514
PubMed Link: 37120602
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_33966.pdf
View BVdb publication page



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: TMEM79: V147M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: TMEM79: V147M; rs6684514
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: TMEM79: 439G>A; Val147Met; rs6684514
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.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: TMEM79: V147M
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
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: rs6684514
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
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: TMEM79: V147M; rs6684514
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



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: TMEM79: V147M
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
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: TMEM79: V147M; rs6684514
PubMed Link: 34673281
Variant Present in the following documents:
  • 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: TMEM79: V147M; rs6684514
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
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: TMEM79: V147M; rs6684514
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: TMEM79: 439G>A; V147M; rs6684514
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TMEM79: 439G>A; Val147Met
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 4
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 2
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: TMEM79: V147M; rs6684514
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: TMEM79: 439G>A; V147M; rs6684514
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Childhood atopic dermatitis: current developments, treatment approaches, and future expectations

Turkish Journal Of Medical Sciences
Gür Çetinkaya, Pınar P; Şahiner, Ümit Murat ÜM
Publication Date: 2019-08-08

Variant appearance in text: rs6684514
PubMed Link: 31408293
Variant Present in the following documents:
  • Main text
  • turkjmedsci-49-963.pdf
View BVdb publication page



Mendelian Randomization Analysis Support Causal Associations of HbA1c with Circulating Triglyceride, Total and Low-density Lipoprotein Cholesterol in a Chinese Population.

Scientific Reports
Jia, Xu X; Hou, Yanan Y; Xu, Min M; Zhao, Zhiyun Z; Xuan, Liping L; Wang, Tiange T; Li, Mian M; Xu, Yu Y; Lu, Jieli J; Bi, Yufang Y; Wang, Weiqing W; Chen, Yuhong Y
Publication Date: 2019-04-02

Variant appearance in text: rs6684514
PubMed Link: 30940890
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_41076.pdf
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: TMEM79: V147M; rs6684514
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 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: TMEM79: 439G>A; rs6684514
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



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: TMEM79: V147M; rs6684514
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Strong selection during the last millennium for African ancestry in the admixed population of Madagascar.

Nature Communications
Pierron, Denis D; Heiske, Margit M; Razafindrazaka, Harilanto H; Pereda-Loth, Veronica V; Sanchez, Jazmin J; Alva, Omar O; Arachiche, Amal A; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-Francois JF; Ricaut, Francois-Xavier FX; Rakotoarisoa, Jean-Aimé JA; Radimilahy, Chantal C; Stoneking, Mark M; Letellier, Thierry T
Publication Date: 2018-03-02

Variant appearance in text: rs6684514
PubMed Link: 29500350
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_3342.pdf
View BVdb publication page



Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c.

Scientific Reports
Hachiya, Tsuyoshi T; Komaki, Shohei S; Hasegawa, Yutaka Y; Ohmomo, Hideki H; Tanno, Kozo K; Hozawa, Atsushi A; Tamiya, Gen G; Yamamoto, Masayuki M; Ogasawara, Kuniaki K; Nakamura, Motoyuki M; Hitomi, Jiro J; Ishigaki, Yasushi Y; Sasaki, Makoto M; Shimizu, Atsushi A
Publication Date: 2017-11-23

Variant appearance in text: rs6684514
PubMed Link: 29170429
Variant Present in the following documents:
  • Main text
  • 41598_2017_16493_MOESM1_ESM.pdf
  • 41598_2017_Article_16493.pdf
View BVdb publication page



Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: TMEM79: V147M; rs6684514
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
  • ddx293.pdf
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: TMEM79: V147M; rs6684514
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Molecular Mechanisms of Cutaneous Inflammatory Disorder: Atopic Dermatitis.

International Journal Of Molecular Sciences
Kim, Jung Eun JE; Kim, Jong Sic JS; Cho, Dae Ho DH; Park, Hyun Jeong HJ
Publication Date: 2016-07-30

Variant appearance in text: rs6684514
PubMed Link: 27483258
Variant Present in the following documents:
  • Main text
  • ijms-17-01234.pdf
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TMEM79: V147M
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Type 2 Diabetes Prevention: Implications of Hemoglobin A1c Genetics.

The Review Of Diabetic Studies : Rds
Leong, Aaron A; Meigs, James B JB
Publication Date: 2015

Variant appearance in text: rs6684514
PubMed Link: 27111120
Variant Present in the following documents:
  • Main text
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: rs6684514
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: TMEM79: V147M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Recent advances in understanding the genetic architecture of type 2 diabetes.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M
Publication Date: 2015-10-15

Variant appearance in text: rs6684514
PubMed Link: 26160912
Variant Present in the following documents:
  • Main text
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: TMEM79: V147M; rs6684514
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: TMEM79: V147M; rs6684514
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: TMEM79: V147M; rs6684514
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_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: TMEM79: V147M; rs6684514
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Diabetes
Chen, Peng P; Takeuchi, Fumihiko F; Lee, Jong-Young JY; Li, Huaixing H; Wu, Jer-Yuarn JY; Liang, Jun J; Long, Jirong J; Tabara, Yasuharu Y; Goodarzi, Mark O MO; Pereira, Mark A MA; Kim, Young Jin YJ; Go, Min Jin MJ; Stram, Daniel O DO; Vithana, Eranga E; Khor, Chiea-Chuen CC; Liu, Jianjun J; Liao, Jiemin J; Ye, Xingwang X; Wang, Yiqin Y; Lu, Ling L; Young, Terri L TL; Lee, Jeannette J; Thai, Ah Chuan AC; Cheng, Ching-Yu CY; van Dam, Rob M RM; Friedlander, Yechiel Y; Heng, Chew-Kiat CK; Koh, Woon-Puay WP; Chen, Chien-Hsiun CH; Chang, Li-Ching LC; Pan, Wen-Harn WH; Qi, Qibin Q; Isono, Masato M; Zheng, Wei W; Cai, Qiuyin Q; Gao, Yutang Y; Yamamoto, Ken K; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Kita, Yoshikuni Y; Ueshima, Hirotsugu H; Hsiung, Chao A CA; Cui, Jinrui J; Sheu, Wayne H-H WH; Rotter, Jerome I JI; Chen, Yii-Der I YD; Hsu, Chris C; Okada, Yukinori Y; Kubo, Michiaki M; Takahashi, Atsushi A; Tanaka, Toshihiro T; van Rooij, Frank J A FJ; Ganesh, Santhi K SK; Huang, Jinyan J; Huang, Tao T; Yuan, Jianmin J; Hwang, Joo-Yeon JY; , ; Gross, Myron D MD; Assimes, Themistocles L TL; Miki, Tetsuro T; Shu, Xiao-Ou XO; Qi, Lu L; Chen, Yuan-Tson YT; Lin, Xu X; Aung, Tin T; Wong, Tien-Yin TY; Teo, Yik-Ying YY; Kim, Bong-Jo BJ; Kato, Norihiro N; Tai, E-Shyong ES
Publication Date: 2014-07

Variant appearance in text: rs6684514
PubMed Link: 24647736
Variant Present in the following documents:
  • Main text
  • 2551.pdf
  • supp_db13-1815_DB131815SupplementaryData.pdf
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: TMEM79: V147M; rs6684514
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.

The Journal Of Allergy And Clinical Immunology
Saunders, Sean P SP; Goh, Christabelle S M CS; Brown, Sara J SJ; Palmer, Colin N A CN; Porter, Rebecca M RM; Cole, Christian C; Campbell, Linda E LE; Gierlinski, Marek M; Barton, Geoffrey J GJ; Schneider, Georg G; Balmain, Allan A; Prescott, Alan R AR; Weidinger, Stephan S; Baurecht, Hansjörg H; Kabesch, Michael M; Gieger, Christian C; Lee, Young-Ae YA; Tavendale, Roger R; Mukhopadhyay, Somnath S; Turner, Stephen W SW; Madhok, Vishnu B VB; Sullivan, Frank M FM; Relton, Caroline C; Burn, John J; Meggitt, Simon S; Smith, Catherine H CH; Allen, Michael A MA; Barker, Jonathan N W N JN; Reynolds, Nick J NJ; Cordell, Heather J HJ; Irvine, Alan D AD; McLean, W H Irwin WH; Sandilands, Aileen A; Fallon, Padraic G PG
Publication Date: 2013-11

Variant appearance in text: rs6684514
PubMed Link: 24084074
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of biologically relevant enhancers in human erythroid cells.

The Journal Of Biological Chemistry
Su, Mack Y MY; Steiner, Laurie A LA; Bogardus, Hannah H; Mishra, Tejaswini T; Schulz, Vincent P VP; Hardison, Ross C RC; Gallagher, Patrick G PG
Publication Date: 2013-03-22

Variant appearance in text: rs6684514
PubMed Link: 23341446
Variant Present in the following documents:
  • Main text
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