NPAS2 c.1180A>G ;(p.T394A)

Variant ID: 2-101591304-A-G

NM_002518.3(NPAS2):c.1180A>G;(p.T394A)

This variant was identified in 62 publications

View GRCh38 version.




Publications:


NPAS2 promotes aerobic glycolysis and tumor growth in prostate cancer through HIF-1A signaling.

Bmc Cancer
Ma, Shuaijun S; Chen, Yafan Y; Quan, Penghe P; Zhang, Jingliang J; Han, Shichao S; Wang, Guohui G; Qi, Ruochen R; Zhang, Xiaoyan X; Wang, Fuli F; Yuan, Jianlin J; Yang, Xiaojian X; Jia, Weijing W; Qin, Weijun W
Publication Date: 2023-03-28

Variant appearance in text: rs2305160
PubMed Link: 36978001
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10685.pdf
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: NPAS2: 1180A>G; Thr394Ala
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: NPAS2: T394A; rs2305160
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
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: NPAS2: 1180A>G; T394A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Circadian rhythm in prostate cancer: time to take notice of the clock.

Asian Journal Of Andrology
Zhu, Wei-Zhen WZ; He, Qi-Ying QY; Feng, De-Chao DC; Wei, Qiang Q; Yang, Lu L
Publication Date: 2022-09-06

Variant appearance in text: rs2305160
PubMed Link: 36073562
Variant Present in the following documents:
  • Main text
  • AJA-25-184.pdf
View BVdb publication page



Circadian Rhythm Dysregulation and Leukemia Development: The Role of Clock Genes as Promising Biomarkers.

International Journal Of Molecular Sciences
Sanford, Ana Beatriz Aguiar ABA; da Cunha, Leidivan Sousa LS; Machado, Caio Bezerra CB; de Pinho Pessoa, Flávia Melo Cunha FMC; Silva, Abigail Nayara Dos Santos ANDS; Ribeiro, Rodrigo Monteiro RM; Moreira, Fabiano Cordeiro FC; de Moraes Filho, Manoel Odorico MO; de Moraes, Maria Elisabete Amaral MEA; de Souza, Lucas Eduardo Botelho LEB; Khayat, André Salim AS; Moreira-Nunes, Caroline Aquino CA
Publication Date: 2022-07-26

Variant appearance in text: rs2305160
PubMed Link: 35897788
Variant Present in the following documents:
  • Main text
  • ijms-23-08212.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: NPAS2: T394A
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Association Between CLOCK Gene Variants and Restless Legs Syndrome in Koreans.

Psychiatry Investigation
Seo, Jae Eun JE; Yeom, Ji Won JW; Jeon, Sehyun S; Cho, Chul-Hyun CH; Jeong, Seunghwa S; Lee, Heon-Jeong HJ
Publication Date: 2021-11

Variant appearance in text: rs2305160
PubMed Link: 34732029
Variant Present in the following documents:
  • Main text
  • pi-2021-0302.pdf
View BVdb publication page



The Expression and Function of Circadian Rhythm Genes in Hepatocellular Carcinoma.

Oxidative Medicine And Cellular Longevity
Jiang, Yanan Y; Shen, Xiuyun X; Fasae, Moyondafoluwa Blessing MB; Zhi, Fengnan F; Chai, Lu L; Ou, Yue Y; Feng, Hai H; Liu, Siwei S; Liu, Ying Y; Yang, Shucai S
Publication Date: 2021

Variant appearance in text: rs2305160
PubMed Link: 34697563
Variant Present in the following documents:
  • Main text
  • OMCL2021-4044606.pdf
View BVdb publication page



NPAS2 ameliorates myocardial ischaemia/reperfusion injury in rats via CX3CL1 pathways and regulating autophagy.

Aging
Huang, Jing J; Qing, Wan W; Pan, Yesheng Y
Publication Date: 2021-08-30

Variant appearance in text: rs2305160
PubMed Link: 34460437
Variant Present in the following documents:
  • Main text
  • aging-13-203445.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: NPAS2: 1180A>G; T394A; rs2305160
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: NPAS2: T394A; rs2305160
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: NPAS2: 1180A>G; T394A; rs2305160
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Gender-specific associations between polymorphisms of the circadian gene RORA and cutaneous melanoma susceptibility.

Journal Of Translational Medicine
Benna, Clara C; Rajendran, Senthilkumar S; Spiro, Giovanna G; Menin, Chiara C; Dall'Olmo, Luigi L; Rossi, Carlo Riccardo CR; Mocellin, Simone S
Publication Date: 2021-02-06

Variant appearance in text: rs2305160
PubMed Link: 33549124
Variant Present in the following documents:
  • Main text
  • 12967_2021_Article_2725.pdf
View BVdb publication page



Cancer in the Fourth Dimension: What Is the Impact of Circadian Disruption?

Cancer Discovery
Pariollaud, Marie M; Lamia, Katja A KA
Publication Date: 2020-10

Variant appearance in text: rs2305160
PubMed Link: 32934020
Variant Present in the following documents:
  • Main text
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: NPAS2: T394A; rs2305160
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Germline polymorphisms of circadian genes and gastric cancer predisposition.

Cancer Communications (London, England)
Rajendran, Senthilkumar S; Benna, Clara C; Marchet, Alberto A; Nitti, Donato D; Mocellin, Simone S
Publication Date: 2020-05

Variant appearance in text: rs2305160
PubMed Link: 32243092
Variant Present in the following documents:
  • Main text
  • CAC2-40-234.pdf
View BVdb publication page



Circadian Clock, Time-Restricted Feeding and Reproduction.

International Journal Of Molecular Sciences
Pan, Xiaoyue X; Taylor, Meredith J MJ; Cohen, Emma E; Hanna, Nazeeh N; Mota, Samantha S
Publication Date: 2020-01-28

Variant appearance in text: rs2305160
PubMed Link: 32012883
Variant Present in the following documents:
  • Main text
  • ijms-21-00831.pdf
View BVdb publication page



Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility.

International Journal Of Molecular Sciences
Lesicka, Monika M; Jabłońska, Ewa E; Wieczorek, Edyta E; Pepłońska, Beata B; Gromadzińska, Jolanta J; Seroczyńska, Barbara B; Kalinowski, Leszek L; Skokowski, Jarosław J; Reszka, Edyta E
Publication Date: 2019-11-14

Variant appearance in text: rs2305160
PubMed Link: 31739444
Variant Present in the following documents:
  • Main text
  • ijms-20-05704.pdf
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: NPAS2: T394A; rs2305160
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_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



The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2nd Trimester Lipid Levels and Preterm Birth.

Frontiers In Genetics
Kovac, Ursa U; Jasper, Elizabeth A EA; Smith, Caitlin J CJ; Baer, Rebecca J RJ; Bedell, Bruce B; Donovan, Brittney M BM; Weathers, Nancy N; Prosenc Zmrzljak, Ursula U; Jelliffe-Pawlowski, Laura L LL; Rozman, Damjana D; Ryckman, Kelli K KK
Publication Date: 2019

Variant appearance in text: rs2305160
PubMed Link: 31249592
Variant Present in the following documents:
  • Presentation_1.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: NPAS2: T394A; rs2305160
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 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



An Overview of the Polymorphisms of Circadian Genes Associated With Endocrine Cancer.

Frontiers In Endocrinology
Morales-Santana, Sonia S; Morell, Santiago S; Leon, Josefa J; Carazo-Gallego, Angel A; Jimenez-Lopez, Jose C JC; Morell, María M
Publication Date: 2019

Variant appearance in text: rs2305160
PubMed Link: 30873119
Variant Present in the following documents:
  • Main text
  • fendo-10-00104.pdf
View BVdb publication page



Functional polymorphisms in circadian positive feedback loop genes predict postsurgical prognosis of gastric cancer.

Cancer Medicine
Chen, Yibing Y; Wang, Dandan D; Song, Yucen Y; Zhang, Xiaofei X; Jiao, Zhihui Z; Dong, Juqin J; Lü, Lin L; Zou, Zhengzhi Z; Du, Wei W; Qu, Falin F
Publication Date: 2019-04

Variant appearance in text: rs2305160
PubMed Link: 30843665
Variant Present in the following documents:
  • Main text
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: rs2305160
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



Associations of clock genes polymorphisms with soft tissue sarcoma susceptibility and prognosis.

Journal Of Translational Medicine
Benna, Clara C; Rajendran, Senthilkumar S; Spiro, Giovanna G; Tropea, Saveria S; Del Fiore, Paolo P; Rossi, Carlo Riccardo CR; Mocellin, Simone S
Publication Date: 2018-12-05

Variant appearance in text: rs2305160
PubMed Link: 30518396
Variant Present in the following documents:
  • Main text
  • 12967_2018_Article_1715.pdf
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: NPAS2: T394A; rs2305160
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: NPAS2: 1180A>G; Thr394Ala; rs2305160
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic Variations Associated with Sleep Disorders in Patients with Schizophrenia: A Systematic Review.

Medicines (Basel, Switzerland)
Assimakopoulos, Konstantinos K; Karaivazoglou, Katerina K; Skokou, Maria M; Kalogeropoulou, Marina M; Kolios, Panagiotis P; Gourzis, Philippos P; Patrinos, George P GP; Tsermpini, Evangelia Eirini EE
Publication Date: 2018-03-24

Variant appearance in text: rs2305160
PubMed Link: 29587340
Variant Present in the following documents:
  • Main text
  • medicines-05-00027.pdf
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: NPAS2: T394A; rs2305160
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, 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: NPAS2: T394A; rs2305160
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia.

International Journal Of Cancer
Gu, Fangyi F; Zhang, Han H; Hyland, Paula L PL; Berndt, Sonja S; Gapstur, Susan M SM; Wheeler, William W; Ellipse Consortium, The T; Amos, Christopher I CI; Bezieau, Stephane S; Bickeböller, Heike H; Brenner, Hermann H; Brennan, Paul P; Chang-Claude, Jenny J; Conti, David V DV; Doherty, Jennifer Anne JA; Gruber, Stephen B SB; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Houlston, Richard S RS; Hung, Rayjean J RJ; Jenkins, Mark A MA; Kraft, Peter P; Lawrenson, Kate K; McKay, James J; Markt, Sarah S; Mucci, Lorelei L; Phelan, Catherine M CM; Qu, Conghui C; Risch, Angela A; Rossing, Mary Anne MA; Wichmann, H-Erich HE; Shi, Jianxin J; Schernhammer, Eva E; Yu, Kai K; Landi, Maria Teresa MT; Caporaso, Neil E NE
Publication Date: 2017-11-01

Variant appearance in text: rs2305160
PubMed Link: 28699174
Variant Present in the following documents:
  • Main text
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: NPAS2: T394A; rs2305160
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Genetic variation of clock genes and cancer risk: a field synopsis and meta-analysis.

Oncotarget
Benna, Clara C; Helfrich-Förster, Charlotte C; Rajendran, Senthilkumar S; Monticelli, Halenya H; Pilati, Pierluigi P; Nitti, Donato D; Mocellin, Simone S
Publication Date: 2017-04-04

Variant appearance in text: rs2305160
PubMed Link: 28177907
Variant Present in the following documents:
  • Main text
  • oncotarget-08-23978.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: NPAS2: T394A; rs2305160
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Demographic history and adaptation account for clock gene diversity in humans.

Heredity
Dall'Ara, I I; Ghirotto, S S; Ingusci, S S; Bagarolo, G G; Bertolucci, C C; Barbujani, G G
Publication Date: 2016-09

Variant appearance in text: rs2305160
PubMed Link: 27301334
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: rs2305160
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: NPAS2: T394A; rs2305160
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



Current evidence on the relationship between two common polymorphisms in NPAS2 gene and cancer risk.

International Journal Of Clinical And Experimental Medicine
Wang, Bi B; Dai, Zhi-Ming ZM; Zhao, Yang Y; Wang, Xi-Jing XJ; Kang, Hua-Feng HF; Ma, Xiao-Bin XB; Lin, Shuai S; Wang, Meng M; Yang, Peng-Tao PT; Dai, Zhi-Jun ZJ
Publication Date: 2015

Variant appearance in text: rs2305160
PubMed Link: 26221256
Variant Present in the following documents:
  • Main text
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: NPAS2: T394A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Deregulation of the circadian clock constitutes a significant factor in tumorigenesis: a clockwork cancer. Part II. In vivo studies.

Biotechnology, Biotechnological Equipment
Uth, Kristin K; Sleigh, Roger R
Publication Date: 2014-05-04

Variant appearance in text: rs2305160
PubMed Link: 26019524
Variant Present in the following documents:
  • Main text
  • tbeq-28-379.pdf
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: NPAS2: T394A; rs2305160
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: NPAS2: T394A; rs2305160
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: NPAS2: T394A; rs2305160
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page