BCO1 c.801A>T ;(p.R267S)

Variant ID: 16-81301694-A-T

NM_017429.2(BCO1):c.801A>T;(p.R267S)

This variant was identified in 64 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: BCO1: R267S
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs12934922
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.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: rs12934922
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Prediction and association analyses of skin phenotypes in Japanese females using genetic, environmental, and physical features.

Skin Research And Technology : Official Journal Of International Society For Bioengineering And The Skin (Isbs) [And] International Society For Digital Imaging Of Skin (Isdis) [And] International Society For Skin Imaging (Issi)
Amano, Satoshi S; Yoshikawa, Tatsuya T; Ito, Chiaki C; Mabuchi, Ikumi I; Kikuchi, Kumiko K; Ooguri, Motoki M; Yasuda, Chie C
Publication Date: 2022-11-27

Variant appearance in text: rs12934922
PubMed Link: 36437544
Variant Present in the following documents:
  • Main text
  • SRT-29-e13231.pdf
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: BCMO1: R267S
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Personalized nutrition: A review of genotype-based nutritional supplementation.

Frontiers In Nutrition
Wang, Feijie F; Zheng, Jianheng J; Cheng, Junrui J; Zou, Hong H; Li, Mingfeng M; Deng, Bin B; Luo, Rong R; Wang, Feng F; Huang, Dingqiang D; Li, Gang G; Zhang, Rao R; Ding, Xin X; Li, Yuan Y; Du, Jun J; Yang, Yuexin Y; Kan, Juntao J
Publication Date: 2022

Variant appearance in text: BCMO1: R267S; rs12934922
PubMed Link: 36159456
Variant Present in the following documents:
  • Main text
  • fnut-09-992986.pdf
View BVdb publication page



Diet-Derived Circulating Antioxidants and Risk of Digestive System Tumors: A Mendelian Randomization Study.

Nutrients
Yin, Linlin L; Yan, Haihao H; Chen, Kangdi K; Ji, Zuhong Z; Zhang, Xiuhua X; Ji, Guozhong G; Zhang, Bin B
Publication Date: 2022-08-10

Variant appearance in text: rs12934922
PubMed Link: 36014780
Variant Present in the following documents:
  • Main text
  • nutrients-14-03274.pdf
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: BCO1: Arg267Ser; rs12934922
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
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: BCMO1: R267S
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications.

Nutrients
Kim, Jee Ah JA; Jang, Ja-Hyun JH; Lee, Soo-Youn SY
Publication Date: 2021-09-10

Variant appearance in text: BCO1: R267S; rs12934922
PubMed Link: 34579037
Variant Present in the following documents:
  • Main text
  • nutrients-13-03162.pdf
View BVdb publication page



Nutritional Treatment in Crohn's Disease.

Nutrients
Caio, Giacomo G; Lungaro, Lisa L; Caputo, Fabio F; Zoli, Eleonora E; Giancola, Fiorella F; Chiarioni, Giuseppe G; De Giorgio, Roberto R; Zoli, Giorgio G
Publication Date: 2021-05-12

Variant appearance in text: BCMO1: R267S; rs12934922
PubMed Link: 34066229
Variant Present in the following documents:
  • Main text
  • nutrients-13-01628.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: BCO1: 801A>T; Arg267Ser; rs12934922
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Recent Progress in Discovering the Role of Carotenoids and Their Metabolites in Prostatic Physiology and Pathology with a Focus on Prostate Cancer-A Review-Part I: Molecular Mechanisms of Carotenoid Action.

Antioxidants (Basel, Switzerland)
Dulińska-Litewka, Joanna J; Sharoni, Yoav Y; Hałubiec, Przemysław P; Łazarczyk, Agnieszka A; Szafrański, Oskar O; McCubrey, James A JA; Gąsiorkiewicz, Bartosz B; Laidler, Piotr P; Bohn, Torsten T
Publication Date: 2021-04-10

Variant appearance in text: rs12934922
PubMed Link: 33920256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dietary intake of vitamin A, lung function and incident asthma in childhood.

The European Respiratory Journal
Talaei, Mohammad M; Hughes, David A DA; Mahmoud, Osama O; Emmett, Pauline M PM; Granell, Raquel R; Guerra, Stefano S; Shaheen, Seif O SO
Publication Date: 2021-10

Variant appearance in text: rs12934922
PubMed Link: 33795317
Variant Present in the following documents:
  • Main text
  • ERJ-04407-2020.pdf
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: BCO1: 801A>T; R267S; rs12934922
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Lycopene: A Critical Review of Digestion, Absorption, Metabolism, and Excretion.

Antioxidants (Basel, Switzerland)
Arballo, Joseph J; Amengual, Jaume J; Erdman, John W JW
Publication Date: 2021-02-25

Variant appearance in text: rs12934922
PubMed Link: 33668703
Variant Present in the following documents:
  • Main text
  • antioxidants-10-00342.pdf
View BVdb publication page



Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs12934922
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
  • ACTA-91-11.pdf
View BVdb publication page



Variation of Serum Lycopene in Response to 100% Watermelon Juice: An Exploratory Analysis of Genetic Variants in a Randomized Controlled Crossover Study.

Current Developments In Nutrition
Crowe-White, Kristi M KM; Voruganti, Venkata S VS; Talevi, Valentina V; Dudenbostel, Tanja T; Nagabooshanam, Vinoth A VA; Locher, Julie L JL; Ellis, Amy C AC
Publication Date: 2020-07

Variant appearance in text: rs12934922
PubMed Link: 32695957
Variant Present in the following documents:
  • Main text
  • nzaa102.pdf
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: BCO1: R267S; rs12934922
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



β-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.

The Journal Of Nutrition
Amengual, Jaume J; Coronel, Johana J; Marques, Courtney C; Aradillas-García, Celia C; Morales, Juan Manuel Vargas JMV; Andrade, Flavia C D FCD; Erdman, John W JW; Teran-Garcia, Margarita M
Publication Date: 2020-08-01

Variant appearance in text: rs12934922
PubMed Link: 32433733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence Supporting a Phased Immuno-physiological Approach to COVID-19 From Prevention Through Recovery.

Integrative Medicine (Encinitas, Calif.)
Yanuck, S F SF; Pizzorno, J J; Messier, H H; Fitzgerald, K N KN
Publication Date: 2020

Variant appearance in text: rs12934922
PubMed Link: 32425712
Variant Present in the following documents:
  • Main text
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: rs12934922
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genes and Eating Preferences, Their Roles in Personalized Nutrition.

Genes
Vesnina, Anna A; Prosekov, Alexander A; Kozlova, Oksana O; Atuchin, Victor V
Publication Date: 2020-03-27

Variant appearance in text: rs12934922
PubMed Link: 32230794
Variant Present in the following documents:
  • Main text
  • genes-11-00357.pdf
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: BCMO1: R267S
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: BCO1: R267S; rs12934922
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research
Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G
Publication Date: 2019-11

Variant appearance in text: rs12934922
PubMed Link: 31483113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.

International Journal Of Environmental Research And Public Health
Li, Zheng Z; Zhao, Tianyu T; Tan, Xiaohua X; Lei, Song S; Huang, Liu L; Yang, Lei L
Publication Date: 2019-09-02

Variant appearance in text: rs12934922
PubMed Link: 31480784
Variant Present in the following documents:
  • Main text
  • ijerph-16-03207.pdf
View BVdb publication page



A Personalised Dietary Approach-A Way Forward to Manage Nutrient Deficiency, Effects of the Western Diet, and Food Intolerances in Inflammatory Bowel Disease.

Nutrients
Laing, Bobbi B BB; Lim, Anecita Gigi AG; Ferguson, Lynnette R LR
Publication Date: 2019-07-05

Variant appearance in text: BCMO1: R267S; rs12934922
PubMed Link: 31284450
Variant Present in the following documents:
  • Main text
  • nutrients-11-01532.pdf
View BVdb publication page



No Interaction between Polymorphisms Related to Vitamin A Metabolism and Vitamin A Intake in Relation to Colorectal Cancer in a Prospective Danish Cohort.

Nutrients
Andersen, Vibeke V; Halekoh, Ulrich U; Bohn, Torsten T; Tjønneland, Anne A; Vogel, Ulla U; Kopp, Tine Iskov TI
Publication Date: 2019-06-25

Variant appearance in text: rs12934922
PubMed Link: 31242605
Variant Present in the following documents:
  • Main text
  • nutrients-11-01428.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: BCMO1: R267S; rs12934922
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 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: BCO1: 801A>T; Arg267Ser; rs12934922
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



Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer.

The Journal Of Nutrition
Moran, Nancy E NE; Thomas-Ahner, Jennifer M JM; Fleming, Jessica L JL; McElroy, Joseph P JP; Mehl, Rebecca R; Grainger, Elizabeth M EM; Riedl, Ken M KM; Toland, Amanda E AE; Schwartz, Steven J SJ; Clinton, Steven K SK
Publication Date: 2019-03-01

Variant appearance in text: rs12934922
PubMed Link: 30801647
Variant Present in the following documents:
  • Main text
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: BCMO1: R267S; rs12934922
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: BCMO1: 801A>T; rs12934922
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: BCO1: 801A>T; R267S; rs12934922
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



Dietary patterns, BCMO1 polymorphisms, and primary lung cancer risk in a Han Chinese population: a case-control study in Southeast China.

Bmc Cancer
He, Fei F; Xiao, Ren-Dong RD; Lin, Tao T; Xiong, Wei-Min WM; Xu, Qiu-Ping QP; Li, Xu X; Liu, Zhi-Qiang ZQ; He, Bao-Chang BC; Hu, Zhi-Jian ZJ; Cai, Lin L
Publication Date: 2018-04-19

Variant appearance in text: rs12934922
PubMed Link: 29673335
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_4361.pdf
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: BCO1: R267S; rs12934922
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs12934922
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.

Nutrients
Borel, Patrick P; Desmarchelier, Charles C
Publication Date: 2017-03-08

Variant appearance in text: rs12934922
PubMed Link: 28282870
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.

Molecular Nutrition & Food Research
Bohn, Torsten T; Desmarchelier, Charles C; Dragsted, Lars O LO; Nielsen, Charlotte S CS; Stahl, Wilhelm W; Rühl, Ralph R; Keijer, Jaap J; Borel, Patrick P
Publication Date: 2017-06

Variant appearance in text: rs12934922
PubMed Link: 28101967
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common SNP rs6564851 in the BCO1 Gene Affects the Circulating Levels of β-Carotene and the Daily Intake of Carotenoids in Healthy Japanese Women.

Plos One
Yabuta, Suemi S; Urata, Masanori M; Wai Kun, Roseline Yap RY; Masaki, Motofumi M; Shidoji, Yoshihiro Y
Publication Date: 2016

Variant appearance in text: BCO1: Arg267Ser; rs12934922
PubMed Link: 28005968
Variant Present in the following documents:
  • Main text
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: BCO1: R267S; rs12934922
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Highlights From the Institute for Functional Medicine's 2014 Annual Conference: Functional Perspectives on Food and Nutrition: The Ultimate Upstream Medicine.

Integrative Medicine (Encinitas, Calif.)
Pizzorno, Lara L
Publication Date: 2014-10

Variant appearance in text: BCMO1: R267S
PubMed Link: 26770117
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: rs12934922
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: BCMO1: R267S; rs12934922
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
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