SIX6 c.421C>A ;(p.H141N)

Variant ID: 14-60976537-C-A

NM_007374.2(SIX6):c.421C>A;(p.H141N)

This variant was identified in 85 publications

View GRCh38 version.




Publications:


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: SIX6: H141N; rs33912345
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: SIX6: H141N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01

Variant appearance in text: rs33912345
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.

Medicine
Lee, Young Chun YC; Lee, Mee Yon MY; Shin, Hye-Young HY
Publication Date: 2022-12-30

Variant appearance in text: SIX6: His141Asn; rs33912345
PubMed Link: 36596020
Variant Present in the following documents:
  • Main text
  • medi-101-e31542.pdf
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: SIX6: H141N; rs33912345
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: SIX6: H141N
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 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



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: SIX6: 421C>A; H141N
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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: SIX6: H141N; rs33912345
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



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

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: SIX6: H141N; rs33912345
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Reciprocal Regulation between lncRNA ANRIL and p15 in Steroid-Induced Glaucoma.

Cells
Wan, Peixing P; Huang, Siyu S; Luo, Yanting Y; Deng, Caibin C; Zhou, Jiajian J; Long, Erping E; Zhuo, Yehong Y
Publication Date: 2022-04-27

Variant appearance in text: SIX6: His141Asn
PubMed Link: 35563774
Variant Present in the following documents:
  • Main text
  • cells-11-01468.pdf
View BVdb publication page



Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Human Molecular Genetics
Guggenheim, Jeremy A JA; Clark, Rosie R; Cui, Jiangtian J; Terry, Louise L; Patasova, Karina K; Haarman, Annechien E G AEG; Musolf, Anthony M AM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE; Hysi, Pirro G PG; Williams, Cathy C; , ; ,
Publication Date: 2022-06-04

Variant appearance in text: SIX6: 421C>A; His141Asn; rs33912345
PubMed Link: 35022715
Variant Present in the following documents:
  • hmg_r2_supplement_ddac004.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: SIX6: H141N
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: SIX6: H141N; rs33912345
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: SIX6: H141N; rs33912345
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Retinal Ganglion Cells-Diversity of Cell Types and Clinical Relevance.

Frontiers In Neurology
Kim, Ungsoo Samuel US; Mahroo, Omar A OA; Mollon, John D JD; Yu-Wai-Man, Patrick P
Publication Date: 2021

Variant appearance in text: rs33912345
PubMed Link: 34093409
Variant Present in the following documents:
  • Main text
  • fneur-12-661938.pdf
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: SIX6: 421C>A; H141N; rs33912345
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Plos Genetics
Currant, Hannah H; Hysi, Pirro P; Fitzgerald, Tomas W TW; Gharahkhani, Puya P; Bonnemaijer, Pieter W M PWM; Senabouth, Anne A; Hewitt, Alex W AW; , ; , ; Atan, Denize D; Aung, Tin T; Charng, Jason J; Choquet, Hélène H; Craig, Jamie J; Khaw, Peng T PT; Klaver, Caroline C W CCW; Kubo, Michiaki M; Ong, Jue-Sheng JS; Pasquale, Louis R LR; Reisman, Charles A CA; Daniszewski, Maciej M; Powell, Joseph E JE; Pébay, Alice A; Simcoe, Mark J MJ; Thiadens, Alberta A H J AAHJ; van Duijn, Cornelia M CM; Yazar, Seyhan S; Jorgenson, Eric E; MacGregor, Stuart S; Hammond, Chris J CJ; Mackey, David A DA; Wiggs, Janey L JL; Foster, Paul J PJ; Patel, Praveen J PJ; Birney, Ewan E; Khawaja, Anthony P AP
Publication Date: 2021-05

Variant appearance in text: rs33912345
PubMed Link: 33979322
Variant Present in the following documents:
  • Main text
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: SIX6: 421C>A; H141N; rs33912345
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



Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups.

Bmc Medical Genomics
Shin, Hyun-Tae HT; Yoon, Byung Woo BW; Seo, Je Hyun JH
Publication Date: 2021-03-16

Variant appearance in text: rs33912345
PubMed Link: 33726755
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_921.pdf
View BVdb publication page



Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report.

World Journal Of Clinical Cases
Yang, Xue X; Sun, Nan-Nan NN; Zhao, Zhen-Ni ZN; He, Shu-Xiang SX; Zhang, Miao M; Zhang, Dan-Dan DD; Yu, Xiao-Wei XW; Zhang, Jia-Min JM; Fan, Zhi-Gang ZG
Publication Date: 2021-01-26

Variant appearance in text: SIX6: His141Asn; rs33912345
PubMed Link: 33553411
Variant Present in the following documents:
  • Main text
  • WJCC-9-697.pdf
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: SIX6: H141N; rs33912345
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



Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Genes
Zukerman, Ryan R; Harris, Alon A; Vercellin, Alice Verticchio AV; Siesky, Brent B; Pasquale, Louis R LR; Ciulla, Thomas A TA
Publication Date: 2020-12-31

Variant appearance in text: rs33912345
PubMed Link: 33396423
Variant Present in the following documents:
  • Main text
  • genes-12-00055.pdf
View BVdb publication page



A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics
Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M
Publication Date: 2020-09-01

Variant appearance in text: SIX6: 421C>A; His141Asn
PubMed Link: 32867697
Variant Present in the following documents:
  • 12881_2020_1110_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Association of Glaucoma Risk Genes with Retinal Nerve Fiber Layer in a Multi-ethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study.

Investigative Ophthalmology & Visual Science
Chai, Xiaoran X; Low, Kok Yao KY; Tham, Yih Chung YC; Chee, Miao Li ML; Thakur, Sahil S; Zhang, Liang L; Tan, Nicholas Y NY; Khor, Chiea Chuen CC; Aung, Tin T; Wong, Tien Yin TY; Cheng, Ching-Yu CY
Publication Date: 2020-08-03

Variant appearance in text: rs33912345
PubMed Link: 32821913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.

Scientific Reports
Charng, Jason J; Simcoe, Mark M; Sanfilippo, Paul G PG; Allingham, R Rand RR; Hewitt, Alex W AW; Hammond, Chris J CJ; Mackey, David A DA; Yazar, Seyhan S
Publication Date: 2020-07-27

Variant appearance in text: rs33912345
PubMed Link: 32719476
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_69524.pdf
View BVdb publication page



Mapping developmental trajectories and subtype diversity of normal and glaucomatous human retinal ganglion cells by single-cell transcriptome analysis.

Stem Cells (Dayton, Ohio)
Teotia, Pooja P; Niu, Meng M; Ahmad, Iqbal I
Publication Date: 2020-10-01

Variant appearance in text: SIX6: His141Asn; rs33912345
PubMed Link: 32557945
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.

International Journal Of Molecular Sciences
Rozpędek-Kamińska, Wioletta W; Wojtczak, Radosław R; Szaflik, Jacek P JP; Szaflik, Jerzy J; Majsterek, Ireneusz I
Publication Date: 2020-06-11

Variant appearance in text: rs33912345
PubMed Link: 32545285
Variant Present in the following documents:
  • Main text
  • ijms-21-04171.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs33912345
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, 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: SIX6: H141N
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs33912345
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early removal of senescent cells protects retinal ganglion cells loss in experimental ocular hypertension.

Aging Cell
Rocha, Lorena Raquel LR; Nguyen Huu, Viet Anh VA; Palomino La Torre, Claudia C; Xu, Qianlan Q; Jabari, Mary M; Krawczyk, Michal M; Weinreb, Robert N RN; Skowronska-Krawczyk, Dorota D
Publication Date: 2020-02

Variant appearance in text: rs33912345
PubMed Link: 31867890
Variant Present in the following documents:
  • Main text
  • ACEL-19-e13089.pdf
View BVdb publication page



Clinical implications of recent advances in primary open-angle glaucoma genetics.

Eye (London, England)
Choquet, Hélène H; Wiggs, Janey L JL; Khawaja, Anthony P AP
Publication Date: 2020-01

Variant appearance in text: rs33912345
PubMed Link: 31645673
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: SIX6: 421C>A; His141Asn; rs33912345
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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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: SIX6: H141N; rs33912345
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
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Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications
Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2019-09-27

Variant appearance in text: SIX6: H141N; rs33912345
PubMed Link: 31562340
Variant Present in the following documents:
  • 41467_2019_12276_MOESM9_ESM.xlsx, sheet 1
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Polymorphisms rs693421 and rs2499601 at locus 1q43 and their haplotypes are not associated with primary open-angle glaucoma: a case-control study.

Bmc Research Notes
Kondkar, Altaf A AA; Azad, Taif A TA; Sultan, Tahira T; Al-Mobarak, Faisal A FA; Kalantan, Hatem H; Al-Obeidan, Saleh A SA
Publication Date: 2019-07-23

Variant appearance in text: rs33912345
PubMed Link: 31337432
Variant Present in the following documents:
  • Main text
  • 13104_2019_Article_4491.pdf
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Human retinal ganglion cell axon regeneration by recapitulating developmental mechanisms: effects of recruitment of the mTOR pathway.

Development (Cambridge, England)
Teotia, Pooja P; Van Hook, Matthew J MJ; Fischer, Dietmar D; Ahmad, Iqbal I
Publication Date: 2019-07-04

Variant appearance in text: SIX6: His141Asn; rs33912345
PubMed Link: 31273087
Variant Present in the following documents:
  • Main text
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: SIX6: 421C>A; His141Asn
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.

Therapeutic Advances In Ophthalmology
Owen, Nicholas N; Moosajee, Mariya M
Publication Date: 2019

Variant appearance in text: SIX6: His141Asn; rs33912345
PubMed Link: 30911735
Variant Present in the following documents:
  • Main text
  • 10.1177_2515841419835460.pdf
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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: SIX6: H141N; rs33912345
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 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 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page