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  1. Article ; Online: Hand Sanitizers

    Jane Lee Jia Jing / Thong Pei Yi / Rajendran J. C. Bose / Jason R. McCarthy / Nagendran Tharmalingam / Thiagarajan Madheswaran

    International Journal of Environmental Research and Public Health, Vol 17, Iss 3326, p

    A Review on Formulation Aspects, Adverse Effects, and Regulations

    2020  Volume 3326

    Abstract: Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain ... ...

    Abstract Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain of the virus by the practice of proper hand sanitization. It can be achieved with contact isolation and strict infection control tool like maintaining good hand hygiene in hospital settings and in public. The success of the hand sanitization solely depends on the use of effective hand disinfecting agents formulated in various types and forms such as antimicrobial soaps, water-based or alcohol-based hand sanitizer, with the latter being widely used in hospital settings. To date, most of the effective hand sanitizer products are alcohol-based formulations containing 62%–95% of alcohol as it can denature the proteins of microbes and the ability to inactivate viruses. This systematic review correlated with the data available in Pubmed, and it will investigate the range of available hand sanitizers and their effectiveness as well as the formulation aspects, adverse effects, and recommendations to enhance the formulation efficiency and safety. Further, this article highlights the efficacy of alcohol-based hand sanitizer against the coronavirus.
    Keywords hand sanitizer ; hand disinfectants ; infection control ; Medicine ; R
    Subject code 600
    Language English
    Publishing date 2020-05-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Hand Sanitizers: A Review on Formulation Aspects, Adverse Effects, and Regulations.

    Jing, Jane Lee Jia / Pei Yi, Thong / Bose, Rajendran J C / McCarthy, Jason R / Tharmalingam, Nagendran / Madheswaran, Thiagarajan

    International journal of environmental research and public health

    2020  Volume 17, Issue 9

    Abstract: Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain ... ...

    Abstract Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain of the virus by the practice of proper hand sanitization. It can be achieved with contact isolation and strict infection control tool like maintaining good hand hygiene in hospital settings and in public. The success of the hand sanitization solely depends on the use of effective hand disinfecting agents formulated in various types and forms such as antimicrobial soaps, water-based or alcohol-based hand sanitizer, with the latter being widely used in hospital settings. To date, most of the effective hand sanitizer products are alcohol-based formulations containing 62%-95% of alcohol as it can denature the proteins of microbes and the ability to inactivate viruses. This systematic review correlated with the data available in Pubmed, and it will investigate the range of available hand sanitizers and their effectiveness as well as the formulation aspects, adverse effects, and recommendations to enhance the formulation efficiency and safety. Further, this article highlights the efficacy of alcohol-based hand sanitizer against the coronavirus.
    MeSH term(s) Disease Outbreaks ; Disinfectants ; Ethanol ; Hand Disinfection/standards ; Hand Hygiene ; Hand Sanitizers/toxicity ; Humans ; Infection Control ; Soaps ; Viruses ; Water
    Chemical Substances Disinfectants ; Hand Sanitizers ; Soaps ; Water (059QF0KO0R) ; Ethanol (3K9958V90M)
    Keywords covid19
    Language English
    Publishing date 2020-05-11
    Publishing country Switzerland
    Document type Journal Article ; Systematic Review
    ZDB-ID 2175195-X
    ISSN 1660-4601 ; 1661-7827
    ISSN (online) 1660-4601
    ISSN 1661-7827
    DOI 10.3390/ijerph17093326
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: 3D printing for oral drug delivery: a new tool to customize drug delivery.

    Pandey, Manisha / Choudhury, Hira / Fern, Joyce Lau Chui / Kee, Alice Teo Kee / Kou, Janice / Jing, Jane Lee Jia / Her, How Chiu / Yong, Hong Sin / Ming, Hon Chian / Bhattamisra, Subrat Kumar / Gorain, Bapi

    Drug delivery and translational research

    2020  Volume 10, Issue 4, Page(s) 986–1001

    Abstract: The involvement of recent technologies, such as nanotechnology and three-dimensional printing (3DP), in drug delivery has become the utmost importance for effective and safe delivery of potent therapeutics, and thus, recent advancement for oral drug ... ...

    Abstract The involvement of recent technologies, such as nanotechnology and three-dimensional printing (3DP), in drug delivery has become the utmost importance for effective and safe delivery of potent therapeutics, and thus, recent advancement for oral drug delivery through 3DP technology has been expanded. The use of computer-aided design (CAD) in 3DP technology allows the manufacturing of drug formulation with the desired release rate and pattern. Currently, the most applicable 3DP technologies in the oral drug delivery system are inkjet printing method, fused deposition method, nozzle-based extrusion system, and stereolithographic 3DP. In 2015, the first 3D-printed tablet was approved by the US Food and Drug Administration (FDA), and since then, it has opened up more opportunities in the discovery of formulation for the development of an oral drug delivery system. 3DP allows the production of an oral drug delivery device that enables tailor-made formulation with customizable size, shape, and release rate. Despite the advantages offered by 3DP technology in the drug delivery system, there are challenges in terms of drug stability, safety as well as applicability in the clinical sector. Nonetheless, 3DP has immense potential in the development of drug delivery devices for future personalized medicine. This article will give the recent advancement along with the challenges of 3DP techniques for the development of oral drug delivery. Graphical abstract.
    MeSH term(s) Administration, Oral ; Animals ; Drug Delivery Systems ; Humans ; Printing, Three-Dimensional
    Language English
    Publishing date 2020-04-05
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2590155-2
    ISSN 2190-3948 ; 2190-393X
    ISSN (online) 2190-3948
    ISSN 2190-393X
    DOI 10.1007/s13346-020-00737-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Hand Sanitizers: A Review on Formulation Aspects, Adverse Effects, and Regulations

    Jing, Jane Lee Jia / Pei Yi, Thong / Bose, Rajendran J C / McCarthy, Jason R / Tharmalingam, Nagendran / Madheswaran, Thiagarajan

    Int. j. environ. res. public health (Online)

    Abstract: Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain ... ...

    Abstract Hand hygiene is of utmost importance as it may be contaminated easily from direct contact with airborne microorganism droplets from coughs and sneezes. Particularly in situations like pandemic outbreak, it is crucial to interrupt the transmission chain of the virus by the practice of proper hand sanitization. It can be achieved with contact isolation and strict infection control tool like maintaining good hand hygiene in hospital settings and in public. The success of the hand sanitization solely depends on the use of effective hand disinfecting agents formulated in various types and forms such as antimicrobial soaps, water-based or alcohol-based hand sanitizer, with the latter being widely used in hospital settings. To date, most of the effective hand sanitizer products are alcohol-based formulations containing 62%-95% of alcohol as it can denature the proteins of microbes and the ability to inactivate viruses. This systematic review correlated with the data available in Pubmed, and it will investigate the range of available hand sanitizers and their effectiveness as well as the formulation aspects, adverse effects, and recommendations to enhance the formulation efficiency and safety. Further, this article highlights the efficacy of alcohol-based hand sanitizer against the coronavirus.
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #232630
    Database COVID19

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  5. Article ; Online: Induction of G2/M Phase Arrest by Diosgenin via Activation of Chk1 Kinase and Cdc25C Regulatory Pathways to Promote Apoptosis in Human Breast Cancer Cells.

    Liao, Wen-Ling / Lin, Jing-Yi / Shieh, Jia-Ching / Yeh, Hsiao-Fong / Hsieh, Yi-Hsien / Cheng, Yu-Chun / Lee, Huei-Jane / Shen, Chen-Yang / Cheng, Chun-Wen

    International journal of molecular sciences

    2019  Volume 21, Issue 1

    Abstract: The anti-tumor activity of diosgenin, a new steroidal constituent present in fenugreek, on two human breast cancer cell lines, MCF-7 and Hs578T, was studied. Diosgenin treatment resulted in cell growth inhibition, cell cycle arrest, and apoptosis in ... ...

    Abstract The anti-tumor activity of diosgenin, a new steroidal constituent present in fenugreek, on two human breast cancer cell lines, MCF-7 and Hs578T, was studied. Diosgenin treatment resulted in cell growth inhibition, cell cycle arrest, and apoptosis in concentration- and time-dependent manners in both cell lines. Western blot analyses of whole cell lysates for cell cycle proteins showed that diosgenin altered phosphorylated cyclin checkpoint1 (p-Chk1
    MeSH term(s) Apoptosis/drug effects ; Breast Neoplasms/pathology ; Cell Line, Tumor ; Checkpoint Kinase 1/metabolism ; Cyclin B/metabolism ; Diosgenin/pharmacology ; Down-Regulation/drug effects ; Female ; G2 Phase Cell Cycle Checkpoints/drug effects ; Humans ; M Phase Cell Cycle Checkpoints/drug effects ; Membrane Potential, Mitochondrial/drug effects ; Phosphorylation/drug effects ; Proto-Oncogene Proteins c-bcl-2/metabolism ; Signal Transduction/drug effects ; cdc25 Phosphatases/metabolism
    Chemical Substances Cyclin B ; Proto-Oncogene Proteins c-bcl-2 ; Checkpoint Kinase 1 (EC 2.7.11.1) ; CDC25C protein, human (EC 3.1.3.48) ; cdc25 Phosphatases (EC 3.1.3.48) ; Diosgenin (K49P2K8WLX)
    Language English
    Publishing date 2019-12-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms21010172
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Induction of G2/M Phase Arrest by Diosgenin via Activation of Chk1 Kinase and Cdc25C Regulatory Pathways to Promote Apoptosis in Human Breast Cancer Cells

    Wen-Ling Liao / Jing-Yi Lin / Jia-Ching Shieh / Hsiao-Fong Yeh / Yi-Hsien Hsieh / Yu-Chun Cheng / Huei-Jane Lee / Chen-Yang Shen / Chun-Wen Cheng

    International Journal of Molecular Sciences, Vol 21, Iss 1, p

    2019  Volume 172

    Abstract: The anti-tumor activity of diosgenin, a new steroidal constituent present in fenugreek, on two human breast cancer cell lines, MCF-7 and Hs578T, was studied. Diosgenin treatment resulted in cell growth inhibition, cell cycle arrest, and apoptosis in ... ...

    Abstract The anti-tumor activity of diosgenin, a new steroidal constituent present in fenugreek, on two human breast cancer cell lines, MCF-7 and Hs578T, was studied. Diosgenin treatment resulted in cell growth inhibition, cell cycle arrest, and apoptosis in concentration- and time-dependent manners in both cell lines. Western blot analyses of whole cell lysates for cell cycle proteins showed that diosgenin altered phosphorylated cyclin checkpoint1 (p-Chk1 Ser345 ) and cyclin B expression, which resulted in G2/M phase blockade. Mechanistically, Cdc25C-Cdc2 signaling was involved in inactivating Chk1 Ser345 by p53-dependence in MCF-7 cells and p21-dependence in Hs578T cells that are p53-deficient. Moreover, diosgenin induced a significant loss of the mitochondrial membrane potential in breast cancer cells, and prominently affected cell death through down-regulation of the anti-apoptotic protein, Bcl-2. This released cytochrome c and activated the caspase signaling cascade. Taken together, these findings reveal that the anti-proliferative activity of diosgenin involves the induction of G2/M phase arrest via modulating the Cdc25C-Cdc2-cyclin B pathway and mitochondria-mediated apoptosis in human breast cancer cell lines. This suggests the potential usefulness of diosgenin in treating breast cancer.
    Keywords diosgenin ; breast cancer ; cell cycle ; chk1 ; apoptosis ; ∆ψm ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 610
    Language English
    Publishing date 2019-12-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article: Induced-Decay of Glycine Decarboxylase Transcripts as an Anticancer Therapeutic Strategy for Non-Small-Cell Lung Carcinoma.

    Lin, Jing / Lee, Jia Hui Jane / Paramasivam, Kathirvel / Pathak, Elina / Wang, Zhenxun / Pramono, Zacharias Aloysius Dwi / Lim, Bing / Wee, Keng Boon / Surana, Uttam

    Molecular therapy. Nucleic acids

    2017  Volume 9, Page(s) 263–273

    Abstract: Self-renewing tumor-initiating cells (TICs) are thought to be responsible for tumor recurrence and chemo-resistance. Glycine decarboxylase, encoded by the GLDC gene, is reported to be overexpressed in TIC-enriched primary non-small-cell lung carcinoma ( ... ...

    Abstract Self-renewing tumor-initiating cells (TICs) are thought to be responsible for tumor recurrence and chemo-resistance. Glycine decarboxylase, encoded by the GLDC gene, is reported to be overexpressed in TIC-enriched primary non-small-cell lung carcinoma (NSCLC). GLDC is a component of the mitochondrial glycine cleavage system, and its high expression is required for growth and tumorigenic capacity. Currently, there are no therapeutic agents against GLDC. As a therapeutic strategy, we have designed and tested splicing-modulating steric hindrance antisense oligonucleotides (shAONs) that efficiently induce exon skipping (half maximal inhibitory concentration [IC
    Language English
    Publishing date 2017-10-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2662631-7
    ISSN 2162-2531
    ISSN 2162-2531
    DOI 10.1016/j.omtn.2017.10.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.

    Li, Changwei / Kim, Yun Kyoung / Dorajoo, Rajkumar / Li, Huaixing / Lee, I-Te / Cheng, Ching-Yu / He, Meian / Sheu, Wayne H-H / Guo, Xiuqing / Ganesh, Santhi K / He, Jiang / Lee, Juyoung / Liu, Jianjun / Hu, Yao / Rao, Dabeeru C / Tsai, Fuu-Jen / Koh, Jia Yu / Hu, Hua / Liang, Kae-Woei /
    Palmas, Walter / Hixson, James E / Han, Sohee / Teo, Yik-Ying / Wang, Yiqin / Chen, Jing / Lu, Chieh Hsiang / Zheng, Yingfeng / Gui, Lixuan / Lee, Wen-Jane / Yao, Jie / Gu, Dongfeng / Han, Bok-Ghee / Sim, Xueling / Sun, Liang / Zhao, Jinying / Chen, Chien-Hsiun / Kumari, Neelam / He, Yunfeng / Taylor, Kent D / Raffel, Leslie J / Moon, Sanghoon / Rotter, Jerome I / Ida Chen, Yii-der / Wu, Tangchun / Wong, Tien Yin / Wu, Jer-Yuarn / Lin, Xu / Tai, E-Shyong / Kim, Bong-Jo / Kelly, Tanika N

    Circulation. Cardiovascular genetics

    2017  Volume 10, Issue 2, Page(s) e001527

    Abstract: Background: Genome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP.: Methods and results: We conducted genome-wide analysis among 18 422 East Asian ... ...

    Abstract Background: Genome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP.
    Methods and results: We conducted genome-wide analysis among 18 422 East Asian participants (stage 1) followed by replication study of ≤46 629 participants of European ancestry (stage 2). Significant single-nucleotide polymorphisms and genes were determined by a
    Conclusions: We identified 1 novel variant and 1 novel gene and present the first direct evidence of relevance of the
    MeSH term(s) Asian People/genetics ; Blood Pressure/genetics ; Asia, Eastern ; Female ; Genetic Loci ; Genome-Wide Association Study ; Humans ; Male ; Phenotype ; Polymorphism, Single Nucleotide
    Language English
    Publishing date 2017-03-08
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Multicenter Study
    ZDB-ID 2477394-3
    ISSN 1942-3268 ; 1942-325X
    ISSN (online) 1942-3268
    ISSN 1942-325X
    DOI 10.1161/CIRCGENETICS.116.001527
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Book ; Online: Gemini

    Gemini Team / Anil, Rohan / Borgeaud, Sebastian / Wu, Yonghui / Alayrac, Jean-Baptiste / Yu, Jiahui / Soricut, Radu / Schalkwyk, Johan / Dai, Andrew M. / Hauth, Anja / Millican, Katie / Silver, David / Petrov, Slav / Johnson, Melvin / Antonoglou, Ioannis / Schrittwieser, Julian / Glaese, Amelia / Chen, Jilin / Pitler, Emily /
    Lillicrap, Timothy / Lazaridou, Angeliki / Firat, Orhan / Molloy, James / Isard, Michael / Barham, Paul R. / Hennigan, Tom / Lee, Benjamin / Viola, Fabio / Reynolds, Malcolm / Xu, Yuanzhong / Doherty, Ryan / Collins, Eli / Meyer, Clemens / Rutherford, Eliza / Moreira, Erica / Ayoub, Kareem / Goel, Megha / Tucker, George / Piqueras, Enrique / Krikun, Maxim / Barr, Iain / Savinov, Nikolay / Danihelka, Ivo / Roelofs, Becca / White, Anaïs / Andreassen, Anders / von Glehn, Tamara / Yagati, Lakshman / Kazemi, Mehran / Gonzalez, Lucas / Khalman, Misha / Sygnowski, Jakub / Frechette, Alexandre / Smith, Charlotte / Culp, Laura / Proleev, Lev / Luan, Yi / Chen, Xi / Lottes, James / Schucher, Nathan / Lebron, Federico / Rrustemi, Alban / Clay, Natalie / Crone, Phil / Kocisky, Tomas / Zhao, Jeffrey / Perz, Bartek / Yu, Dian / Howard, Heidi / Bloniarz, Adam / Rae, Jack W. / Lu, Han / Sifre, Laurent / Maggioni, Marcello / Alcober, Fred / Garrette, Dan / Barnes, Megan / Thakoor, Shantanu / Austin, Jacob / Barth-Maron, Gabriel / Wong, William / Joshi, Rishabh / Chaabouni, Rahma / Fatiha, Deeni / Ahuja, Arun / Liu, Ruibo / Li, Yunxuan / Cogan, Sarah / Chen, Jeremy / Jia, Chao / Gu, Chenjie / Zhang, Qiao / Grimstad, Jordan / Hartman, Ale Jakse / Chadwick, Martin / Tomar, Gaurav Singh / Garcia, Xavier / Senter, Evan / Taropa, Emanuel / Pillai, Thanumalayan Sankaranarayana / Devlin, Jacob / Laskin, Michael / Casas, Diego de Las / Valter, Dasha / Tao, Connie / Blanco, Lorenzo / Badia, Adrià Puigdomènech / Reitter, David / Chen, Mianna / Brennan, Jenny / Rivera, Clara / Brin, Sergey / Iqbal, Shariq / Surita, Gabriela / Labanowski, Jane / Rao, Abhi / Winkler, Stephanie / Parisotto, Emilio / Gu, Yiming / Olszewska, Kate / Zhang, Yujing / Addanki, Ravi / Miech, Antoine / Louis, Annie / Shafey, Laurent El / Teplyashin, Denis / Brown, Geoff / Catt, Elliot / Attaluri, Nithya / Balaguer, Jan / Xiang, Jackie / Wang, Pidong / Ashwood, Zoe / Briukhov, Anton / Webson, Albert / Ganapathy, Sanjay / Sanghavi, Smit / Kannan, Ajay / Chang, Ming-Wei / Stjerngren, Axel / Djolonga, Josip / Sun, Yuting / Bapna, Ankur / Aitchison, Matthew / Pejman, Pedram / Michalewski, Henryk / Yu, Tianhe / Wang, Cindy / Love, Juliette / Ahn, Junwhan / Bloxwich, Dawn / Han, Kehang / Humphreys, Peter / Sellam, Thibault / Bradbury, James / Godbole, Varun / Samangooei, Sina / Damoc, Bogdan / Kaskasoli, Alex / Arnold, Sébastien M. R. / Vasudevan, Vijay / Agrawal, Shubham / Riesa, Jason / Lepikhin, Dmitry / Tanburn, Richard / Srinivasan, Srivatsan / Lim, Hyeontaek / Hodkinson, Sarah / Shyam, Pranav / Ferret, Johan / Hand, Steven / Garg, Ankush / Paine, Tom Le / Li, Jian / Li, Yujia / Giang, Minh / Neitz, Alexander / Abbas, Zaheer / York, Sarah / Reid, Machel / Cole, Elizabeth / Chowdhery, Aakanksha / Das, Dipanjan / Rogozińska, Dominika / Nikolaev, Vitaly / Sprechmann, Pablo / Nado, Zachary / Zilka, Lukas / Prost, Flavien / He, Luheng / Monteiro, Marianne / Mishra, Gaurav / Welty, Chris / Newlan, Josh / Jia, Dawei / Allamanis, Miltiadis / Hu, Clara Huiyi / de Liedekerke, Raoul / Gilmer, Justin / Saroufim, Carl / Rijhwani, Shruti / Hou, Shaobo / Shrivastava, Disha / Baddepudi, Anirudh / Goldin, Alex / Ozturel, Adnan / Cassirer, Albin / Xu, Yunhan / Sohn, Daniel / Sachan, Devendra / Amplayo, Reinald Kim / Swanson, Craig / Petrova, Dessie / Narayan, Shashi / Guez, Arthur / Brahma, Siddhartha / Landon, Jessica / Patel, Miteyan / Zhao, Ruizhe / Villela, Kevin / Wang, Luyu / Jia, Wenhao / Rahtz, Matthew / Giménez, Mai / Yeung, Legg / Lin, Hanzhao / Keeling, James / Georgiev, Petko / Mincu, Diana / Wu, Boxi / Haykal, Salem / Saputro, Rachel / Vodrahalli, Kiran / Qin, James / Cankara, Zeynep / Sharma, Abhanshu / Fernando, Nick / Hawkins, Will / Neyshabur, Behnam / Kim, Solomon / Hutter, Adrian / Agrawal, Priyanka / Castro-Ros, Alex / Driessche, George van den / Wang, Tao / Yang, Fan / Chang, Shuo-yiin / Komarek, Paul / McIlroy, Ross / Lučić, Mario / Zhang, Guodong / Farhan, Wael / Sharman, Michael / Natsev, Paul / Michel, Paul / Cheng, Yong / Bansal, Yamini / Qiao, Siyuan / Cao, Kris / Shakeri, Siamak / Butterfield, Christina / Chung, Justin / Rubenstein, Paul Kishan / Agrawal, Shivani / Mensch, Arthur / Soparkar, Kedar / Lenc, Karel / Chung, Timothy / Pope, Aedan / Maggiore, Loren / Kay, Jackie / Jhakra, Priya / Wang, Shibo / Maynez, Joshua / Phuong, Mary / Tobin, Taylor / Tacchetti, Andrea / Trebacz, Maja / Robinson, Kevin / Katariya, Yash / Riedel, Sebastian / Bailey, Paige / Xiao, Kefan / Ghelani, Nimesh / Aroyo, Lora / Slone, Ambrose / Houlsby, Neil / Xiong, Xuehan / Yang, Zhen / Gribovskaya, Elena / Adler, Jonas / Wirth, Mateo / Lee, Lisa / Li, Music / Kagohara, Thais / Pavagadhi, Jay / Bridgers, Sophie / Bortsova, Anna / Ghemawat, Sanjay / Ahmed, Zafarali / Liu, Tianqi / Powell, Richard / Bolina, Vijay / Iinuma, Mariko / Zablotskaia, Polina / Besley, James / Chung, Da-Woon / Dozat, Timothy / Comanescu, Ramona / Si, Xiance / Greer, Jeremy / Su, Guolong / Polacek, Martin / Kaufman, Raphaël Lopez / Tokumine, Simon / Hu, Hexiang / Buchatskaya, Elena / Miao, Yingjie / Elhawaty, Mohamed / Siddhant, Aditya / Tomasev, Nenad / Xing, Jinwei / Greer, Christina / Miller, Helen / Ashraf, Shereen / Roy, Aurko / Zhang, Zizhao / Ma, Ada / Filos, Angelos / Besta, Milos / Blevins, Rory / Klimenko, Ted / Yeh, Chih-Kuan / Changpinyo, Soravit / Mu, Jiaqi / Chang, Oscar / Pajarskas, Mantas / Muir, Carrie / Cohen, Vered / Lan, Charline Le / Haridasan, Krishna / Marathe, Amit / Hansen, Steven / Douglas, Sholto / Samuel, Rajkumar / Wang, Mingqiu / Austin, Sophia / Lan, Chang / Jiang, Jiepu / Chiu, Justin / Lorenzo, Jaime Alonso / Sjösund, Lars Lowe / Cevey, Sébastien / Gleicher, Zach / Avrahami, Thi / Boral, Anudhyan / Srinivasan, Hansa / Selo, Vittorio / May, Rhys / Aisopos, Konstantinos / Hussenot, Léonard / Soares, Livio Baldini / Baumli, Kate / Chang, Michael B. / Recasens, Adrià / Caine, Ben / Pritzel, Alexander / Pavetic, Filip / Pardo, Fabio / Gergely, Anita / Frye, Justin / Ramasesh, Vinay / Horgan, Dan / Badola, Kartikeya / Kassner, Nora / Roy, Subhrajit / Dyer, Ethan / Campos, Víctor / Tomala, Alex / Tang, Yunhao / Badawy, Dalia El / White, Elspeth / Mustafa, Basil / Lang, Oran / Jindal, Abhishek / Vikram, Sharad / Gong, Zhitao / Caelles, Sergi / Hemsley, Ross / Thornton, Gregory / Feng, Fangxiaoyu / Stokowiec, Wojciech / Zheng, Ce / Thacker, Phoebe / Ünlü, Çağlar / Zhang, Zhishuai / Saleh, Mohammad / Svensson, James / Bileschi, Max / Patil, Piyush / Anand, Ankesh / Ring, Roman / Tsihlas, Katerina / Vezer, Arpi / Selvi, Marco / Shevlane, Toby / Rodriguez, Mikel / Kwiatkowski, Tom / Daruki, Samira / Rong, Keran / Dafoe, Allan / FitzGerald, Nicholas / Gu-Lemberg, Keren / Khan, Mina / Hendricks, Lisa Anne / Pellat, Marie / Feinberg, Vladimir / Cobon-Kerr, James / Sainath, Tara / Rauh, Maribeth / Hashemi, Sayed Hadi / Ives, Richard / Hasson, Yana / Li, YaGuang / Noland, Eric / Cao, Yuan / Byrd, Nathan / Hou, Le / Wang, Qingze / Sottiaux, Thibault / Paganini, Michela / Lespiau, Jean-Baptiste / Moufarek, Alexandre / Hassan, Samer / Shivakumar, Kaushik / van Amersfoort, Joost / Mandhane, Amol / Joshi, Pratik / Goyal, Anirudh / Tung, Matthew / Brock, Andrew / Sheahan, Hannah / Misra, Vedant / Li, Cheng / Rakićević, Nemanja / Dehghani, Mostafa / Liu, Fangyu / Mittal, Sid / Oh, Junhyuk / Noury, Seb / Sezener, Eren / Huot, Fantine / Lamm, Matthew / De Cao, Nicola / Chen, Charlie / Elsayed, Gamaleldin / Chi, Ed / Mahdieh, Mahdis / Tenney, Ian / Hua, Nan / Petrychenko, Ivan / Kane, Patrick / Scandinaro, Dylan / Jain, Rishub / Uesato, Jonathan / Datta, Romina / Sadovsky, Adam / Bunyan, Oskar / Rabiej, Dominik / Wu, Shimu / Zhang, John / Vasudevan, Gautam / Leurent, Edouard / Alnahlawi, Mahmoud / Georgescu, Ionut / Wei, Nan / Zheng, Ivy / Chan, Betty / Rabinovitch, Pam G / Stanczyk, Piotr / Zhang, Ye / Steiner, David / Naskar, Subhajit / Azzam, Michael / Johnson, Matthew / Paszke, Adam / Chiu, Chung-Cheng / Elias, Jaume Sanchez / Mohiuddin, Afroz / Muhammad, Faizan / Miao, Jin / Lee, Andrew / Vieillard, Nino / Potluri, Sahitya / Park, Jane / Davoodi, Elnaz / Zhang, Jiageng / Stanway, Jeff / Garmon, Drew / Karmarkar, Abhijit / Dong, Zhe / Lee, Jong / Kumar, Aviral / Zhou, Luowei / Evens, Jonathan / Isaac, William / Chen, Zhe / Jia, Johnson / Levskaya, Anselm / Zhu, Zhenkai / Gorgolewski, Chris / Grabowski, Peter / Mao, Yu / Magni, Alberto / Yao, Kaisheng / Snaider, Javier / Casagrande, Norman / Suganthan, Paul / Palmer, Evan / Irving, Geoffrey / Loper, Edward / Faruqui, Manaal / Arkatkar, Isha / Chen, Nanxin / Shafran, Izhak / Fink, Michael / Castaño, Alfonso / Giannoumis, Irene / Kim, Wooyeol / Rybiński, Mikołaj / Sreevatsa, Ashwin / Prendki, Jennifer / Soergel, David / Goedeckemeyer, Adrian / Gierke, Willi / Jafari, Mohsen / Gaba, Meenu / Wiesner, Jeremy / Wright, Diana Gage / Wei, Yawen / Vashisht, Harsha / Kulizhskaya, Yana / Hoover, Jay / Le, Maigo / Li, Lu / Iwuanyanwu, Chimezie / Liu, Lu / Ramirez, Kevin / Khorlin, Andrey / Cui, Albert / LIN, Tian / Georgiev, Marin / Wu, Marcus / Aguilar, Ricardo / Pallo, Keith / Chakladar, Abhishek / Repina, Alena / Wu, Xihui / van der Weide, Tom / Ponnapalli, Priya / Kaplan, Caroline / Simsa, Jiri / Li, Shuangfeng / Dousse, Olivier / Piper, Jeff / Ie, Nathan / Lui, Minnie / Pasumarthi, Rama / Lintz, Nathan / Vijayakumar, Anitha / Thiet, Lam Nguyen / Andor, Daniel / Valenzuela, Pedro / Paduraru, Cosmin / Peng, Daiyi / Lee, Katherine / Zhang, Shuyuan / Greene, Somer / Nguyen, Duc Dung / Kurylowicz, Paula / Velury, Sarmishta / Krause, Sebastian / Hardin, Cassidy / Dixon, Lucas / Janzer, Lili / Choo, Kiam / Feng, Ziqiang / Zhang, Biao / Singhal, Achintya / Latkar, Tejasi / Zhang, Mingyang / Le, Quoc / Abellan, Elena Allica / Du, Dayou / McKinnon, Dan / Antropova, Natasha / Bolukbasi, Tolga / Keller, Orgad / Reid, David / Finchelstein, Daniel / Raad, Maria Abi / Crocker, Remi / Hawkins, Peter / Dadashi, Robert / Gaffney, Colin / Lall, Sid / Franko, Ken / Filonov, Egor / Bulanova, Anna / Leblond, Rémi / Yadav, Vikas / Chung, Shirley / Askham, Harry / Cobo, Luis C. / Xu, Kelvin / Fischer, Felix / Xu, Jun / Sorokin, Christina / Alberti, Chris / Lin, Chu-Cheng / Evans, Colin / Zhou, Hao / Dimitriev, Alek / Forbes, Hannah / Banarse, Dylan / Tung, Zora / Liu, Jeremiah / Omernick, Mark / Bishop, Colton / Kumar, Chintu / Sterneck, Rachel / Foley, Ryan / Jain, Rohan / Mishra, Swaroop / Xia, Jiawei / Bos, Taylor / Cideron, Geoffrey / Amid, Ehsan / Piccinno, Francesco / Wang, Xingyu / Banzal, Praseem / Gurita, Petru / Noga, Hila / Shah, Premal / Mankowitz, Daniel J. / Polozov, Alex / Kushman, Nate / Krakovna, Victoria / Brown, Sasha / Bateni, MohammadHossein / Duan, Dennis / Firoiu, Vlad / Thotakuri, Meghana / Natan, Tom / Mohananey, Anhad / Geist, Matthieu / Mudgal, Sidharth / Girgin, Sertan / Li, Hui / Ye, Jiayu / Roval, Ofir / Tojo, Reiko / Kwong, Michael / Lee-Thorp, James / Yew, Christopher / Yuan, Quan / Bagri, Sumit / Sinopalnikov, Danila / Ramos, Sabela / Mellor, John / Sharma, Abhishek / Severyn, Aliaksei / Lai, Jonathan / Wu, Kathy / Cheng, Heng-Tze / Miller, David / Sonnerat, Nicolas / Vnukov, Denis / Greig, Rory / Beattie, Jennifer / Caveness, Emily / Bai, Libin / Eisenschlos, Julian / Korchemniy, Alex / Tsai, Tomy / Jasarevic, Mimi / Kong, Weize / Dao, Phuong / Zheng, Zeyu / Liu, Frederick / Zhu, Rui / Geller, Mark / Teh, Tian Huey / Sanmiya, Jason / Gladchenko, Evgeny / Trdin, Nejc / Sozanschi, Andrei / Toyama, Daniel / Rosen, Evan / Tavakkol, Sasan / Xue, Linting / Elkind, Chen / Woodman, Oliver / Carpenter, John / Papamakarios, George / Kemp, Rupert / Kafle, Sushant / Grunina, Tanya / Sinha, Rishika / Talbert, Alice / Goyal, Abhimanyu / Wu, Diane / Owusu-Afriyie, Denese / Du, Cosmo / Thornton, Chloe / Pont-Tuset, Jordi / Narayana, Pradyumna / Li, Jing / Fatehi, Sabaer / Wieting, John / Ajmeri, Omar / Uria, Benigno / Zhu, Tao / Ko, Yeongil / Knight, Laura / Héliou, Amélie / Niu, Ning / Gu, Shane / Pang, Chenxi / Tran, Dustin / Li, Yeqing / Levine, Nir / Stolovich, Ariel / Kalb, Norbert / Santamaria-Fernandez, Rebeca / Goenka, Sonam / Yustalim, Wenny / Strudel, Robin / Elqursh, Ali / Lakshminarayanan, Balaji / Deck, Charlie / Upadhyay, Shyam / Lee, Hyo / Dusenberry, Mike / Li, Zonglin / Wang, Xuezhi / Levin, Kyle / Hoffmann, Raphael / Holtmann-Rice, Dan / Bachem, Olivier / Yue, Summer / Arora, Sho / Malmi, Eric / Mirylenka, Daniil / Tan, Qijun / Koh, Christy / Yeganeh, Soheil Hassas / Põder, Siim / Zheng, Steven / Pongetti, Francesco / Tariq, Mukarram / Sun, Yanhua / Ionita, Lucian / Seyedhosseini, Mojtaba / Tafti, Pouya / Kotikalapudi, Ragha / Liu, Zhiyu / Gulati, Anmol / Liu, Jasmine / Ye, Xinyu / Chrzaszcz, Bart / Wang, Lily / Sethi, Nikhil / Li, Tianrun / Brown, Ben / Singh, Shreya / Fan, Wei / Parisi, Aaron / Stanton, Joe / Kuang, Chenkai / Koverkathu, Vinod / Choquette-Choo, Christopher A. / Li, Yunjie / Lu, TJ / Ittycheriah, Abe / Shroff, Prakash / Sun, Pei / Varadarajan, Mani / Bahargam, Sanaz / Willoughby, Rob / Gaddy, David / Dasgupta, Ishita / Desjardins, Guillaume / Cornero, Marco / Robenek, Brona / Mittal, Bhavishya / Albrecht, Ben / Shenoy, Ashish / Moiseev, Fedor / Jacobsson, Henrik / Ghaffarkhah, Alireza / Rivière, Morgane / Walton, Alanna / Crepy, Clément / Parrish, Alicia / Liu, Yuan / Zhou, Zongwei / Farabet, Clement / Radebaugh, Carey / Srinivasan, Praveen / van der Salm, Claudia / Fidjeland, Andreas / Scellato, Salvatore / Latorre-Chimoto, Eri / Klimczak-Plucińska, Hanna / Bridson, David / de Cesare, Dario / Hudson, Tom / Mendolicchio, Piermaria / Walker, Lexi / Morris, Alex / Penchev, Ivo / Mauger, Matthew / Guseynov, Alexey / Reid, Alison / Odoom, Seth / Loher, Lucia / Cotruta, Victor / Yenugula, Madhavi / Grewe, Dominik / Petrushkina, Anastasia / Duerig, Tom / Sanchez, Antonio / Yadlowsky, Steve / Shen, Amy / Globerson, Amir / Kurzrok, Adam / Webb, Lynette / Dua, Sahil / Li, Dong / Lahoti, Preethi / Bhupatiraju, Surya / Hurt, Dan / Qureshi, Haroon / Agarwal, Ananth / Shani, Tomer / Eyal, Matan / Khare, Anuj / Belle, Shreyas Rammohan / Wang, Lei / Tekur, Chetan / Kale, Mihir Sanjay / Wei, Jinliang / Sang, Ruoxin / Saeta, Brennan / Liechty, Tyler / Sun, Yi / Zhao, Yao / Lee, Stephan / Nayak, Pandu / Fritz, Doug / Vuyyuru, Manish Reddy / Aslanides, John / Vyas, Nidhi / Wicke, Martin / Ma, Xiao / Bilal, Taylan / Eltyshev, Evgenii / Balle, Daniel / Martin, Nina / Cate, Hardie / Manyika, James / Amiri, Keyvan / Kim, Yelin / Xiong, Xi / Kang, Kai / Luisier, Florian / Tripuraneni, Nilesh / Madras, David / Guo, Mandy / Waters, Austin / Wang, Oliver / Ainslie, Joshua / Baldridge, Jason / Zhang, Han / Pruthi, Garima / Bauer, Jakob / Yang, Feng / Mansour, Riham / Gelman, Jason / Xu, Yang / Polovets, George / Liu, Ji / Cai, Honglong / Chen, Warren / Sheng, XiangHai / Xue, Emily / Ozair, Sherjil / Yu, Adams / Angermueller, Christof / Li, Xiaowei / Wang, Weiren / Wiesinger, Julia / Koukoumidis, Emmanouil / Tian, Yuan / Iyer, Anand / Gurumurthy, Madhu / Goldenson, Mark / Shah, Parashar / Blake, MK / Yu, Hongkun / Urbanowicz, Anthony / Palomaki, Jennimaria / Fernando, Chrisantha / Brooks, Kevin / Durden, Ken / Mehta, Harsh / Momchev, Nikola / Rahimtoroghi, Elahe / Georgaki, Maria / Raul, Amit / Ruder, Sebastian / Redshaw, Morgan / Lee, Jinhyuk / Jalan, Komal / Li, Dinghua / Perng, Ginger / Hechtman, Blake / Schuh, Parker / Nasr, Milad / Chen, Mia / Milan, Kieran / Mikulik, Vladimir / Strohman, Trevor / Franco, Juliana / Green, Tim / Hassabis, Demis / Kavukcuoglu, Koray / Dean, Jeffrey / Vinyals, Oriol

    A Family of Highly Capable Multimodal Models

    2023  

    Abstract: This report introduces a new family of multimodal models, Gemini, that exhibit remarkable capabilities across image, audio, video, and text understanding. The Gemini family consists of Ultra, Pro, and Nano sizes, suitable for applications ranging from ... ...

    Abstract This report introduces a new family of multimodal models, Gemini, that exhibit remarkable capabilities across image, audio, video, and text understanding. The Gemini family consists of Ultra, Pro, and Nano sizes, suitable for applications ranging from complex reasoning tasks to on-device memory-constrained use-cases. Evaluation on a broad range of benchmarks shows that our most-capable Gemini Ultra model advances the state of the art in 30 of 32 of these benchmarks - notably being the first model to achieve human-expert performance on the well-studied exam benchmark MMLU, and improving the state of the art in every one of the 20 multimodal benchmarks we examined. We believe that the new capabilities of Gemini models in cross-modal reasoning and language understanding will enable a wide variety of use cases and we discuss our approach toward deploying them responsibly to users.
    Keywords Computer Science - Computation and Language ; Computer Science - Artificial Intelligence ; Computer Science - Computer Vision and Pattern Recognition
    Subject code 004
    Publishing date 2023-12-18
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

    Justice, Anne E / Karaderi, Tugce / Highland, Heather M / Young, Kristin L / Graff, Mariaelisa / Lu, Yingchang / Turcot, Valérie / Auer, Paul L / Fine, Rebecca S / Guo, Xiuqing / Schurmann, Claudia / Lempradl, Adelheid / Marouli, Eirini / Mahajan, Anubha / Winkler, Thomas W / Locke, Adam E / Medina-Gomez, Carolina / Esko, Tõnu / Vedantam, Sailaja /
    Giri, Ayush / Lo, Ken Sin / Alfred, Tamuno / Mudgal, Poorva / Ng, Maggie C Y / Heard-Costa, Nancy L / Feitosa, Mary F / Manning, Alisa K / Willems, Sara M / Sivapalaratnam, Suthesh / Abecasis, Goncalo / Alam, Dewan S / Allison, Matthew / Amouyel, Philippe / Arzumanyan, Zorayr / Balkau, Beverley / Bastarache, Lisa / Bergmann, Sven / Bielak, Lawrence F / Blüher, Matthias / Boehnke, Michael / Boeing, Heiner / Boerwinkle, Eric / Böger, Carsten A / Bork-Jensen, Jette / Bottinger, Erwin P / Bowden, Donald W / Brandslund, Ivan / Broer, Linda / Burt, Amber A / Butterworth, Adam S / Caulfield, Mark J / Cesana, Giancarlo / Chambers, John C / Chasman, Daniel I / Chen, Yii-Der Ida / Chowdhury, Rajiv / Christensen, Cramer / Chu, Audrey Y / Collins, Francis S / Cook, James P / Cox, Amanda J / Crosslin, David S / Danesh, John / de Bakker, Paul I W / Denus, Simon de / Mutsert, Renée de / Dedoussis, George / Demerath, Ellen W / Dennis, Joe G / Denny, Josh C / Di Angelantonio, Emanuele / Dörr, Marcus / Drenos, Fotios / Dubé, Marie-Pierre / Dunning, Alison M / Easton, Douglas F / Elliott, Paul / Evangelou, Evangelos / Farmaki, Aliki-Eleni / Feng, Shuang / Ferrannini, Ele / Ferrieres, Jean / Florez, Jose C / Fornage, Myriam / Fox, Caroline S / Franks, Paul W / Friedrich, Nele / Gan, Wei / Gandin, Ilaria / Gasparini, Paolo / Giedraitis, Vilmantas / Girotto, Giorgia / Gorski, Mathias / Grallert, Harald / Grarup, Niels / Grove, Megan L / Gustafsson, Stefan / Haessler, Jeff / Hansen, Torben / Hattersley, Andrew T / Hayward, Caroline / Heid, Iris M / Holmen, Oddgeir L / Hovingh, G Kees / Howson, Joanna M M / Hu, Yao / Hung, Yi-Jen / Hveem, Kristian / Ikram, M Arfan / Ingelsson, Erik / Jackson, Anne U / Jarvik, Gail P / Jia, Yucheng / Jørgensen, Torben / Jousilahti, Pekka / Justesen, Johanne M / Kahali, Bratati / Karaleftheri, Maria / Kardia, Sharon L R / Karpe, Fredrik / Kee, Frank / Kitajima, Hidetoshi / Komulainen, Pirjo / Kooner, Jaspal S / Kovacs, Peter / Krämer, Bernhard K / Kuulasmaa, Kari / Kuusisto, Johanna / Laakso, Markku / Lakka, Timo A / Lamparter, David / Lange, Leslie A / Langenberg, Claudia / Larson, Eric B / Lee, Nanette R / Lee, Wen-Jane / Lehtimäki, Terho / Lewis, Cora E / Li, Huaixing / Li, Jin / Li-Gao, Ruifang / Lin, Li-An / Lin, Xu / Lind, Lars / Lindström, Jaana / Linneberg, Allan / Liu, Ching-Ti / Liu, Dajiang J / Luan, Jian'an / Lyytikäinen, Leo-Pekka / MacGregor, Stuart / Mägi, Reedik / Männistö, Satu / Marenne, Gaëlle / Marten, Jonathan / Masca, Nicholas G D / McCarthy, Mark I / Meidtner, Karina / Mihailov, Evelin / Moilanen, Leena / Moitry, Marie / Mook-Kanamori, Dennis O / Morgan, Anna / Morris, Andrew P / Müller-Nurasyid, Martina / Munroe, Patricia B / Narisu, Narisu / Nelson, Christopher P / Neville, Matt / Ntalla, Ioanna / O'Connell, Jeffrey R / Owen, Katharine R / Pedersen, Oluf / Peloso, Gina M / Pennell, Craig E / Perola, Markus / Perry, James A / Perry, John R B / Pers, Tune H / Ewing, Ailith / Polasek, Ozren / Raitakari, Olli T / Rasheed, Asif / Raulerson, Chelsea K / Rauramaa, Rainer / Reilly, Dermot F / Reiner, Alex P / Ridker, Paul M / Rivas, Manuel A / Robertson, Neil R / Robino, Antonietta / Rudan, Igor / Ruth, Katherine S / Saleheen, Danish / Salomaa, Veikko / Samani, Nilesh J / Schreiner, Pamela J / Schulze, Matthias B / Scott, Robert A / Segura-Lepe, Marcelo / Sim, Xueling / Slater, Andrew J / Small, Kerrin S / Smith, Blair H / Smith, Jennifer A / Southam, Lorraine / Spector, Timothy D / Speliotes, Elizabeth K / Stefansson, Kari / Steinthorsdottir, Valgerdur / Stirrups, Kathleen E / Strauch, Konstantin / Stringham, Heather M / Stumvoll, Michael / Sun, Liang / Surendran, Praveen / Swart, Karin M A / Tardif, Jean-Claude / Taylor, Kent D / Teumer, Alexander / Thompson, Deborah J / Thorleifsson, Gudmar / Thorsteinsdottir, Unnur / Thuesen, Betina H / Tönjes, Anke / Torres, Mina / Tsafantakis, Emmanouil / Tuomilehto, Jaakko / Uitterlinden, André G / Uusitupa, Matti / van Duijn, Cornelia M / Vanhala, Mauno / Varma, Rohit / Vermeulen, Sita H / Vestergaard, Henrik / Vitart, Veronique / Vogt, Thomas F / Vuckovic, Dragana / Wagenknecht, Lynne E / Walker, Mark / Wallentin, Lars / Wang, Feijie / Wang, Carol A / Wang, Shuai / Wareham, Nicholas J / Warren, Helen R / Waterworth, Dawn M / Wessel, Jennifer / White, Harvey D / Willer, Cristen J / Wilson, James G / Wood, Andrew R / Wu, Ying / Yaghootkar, Hanieh / Yao, Jie / Yerges-Armstrong, Laura M / Young, Robin / Zeggini, Eleftheria / Zhan, Xiaowei / Zhang, Weihua / Zhao, Jing Hua / Zhao, Wei / Zheng, He / Zhou, Wei / Zillikens, M Carola / Rivadeneira, Fernando / Borecki, Ingrid B / Pospisilik, J Andrew / Deloukas, Panos / Frayling, Timothy M / Lettre, Guillaume / Mohlke, Karen L / Rotter, Jerome I / Kutalik, Zoltán / Hirschhorn, Joel N / Cupples, L Adrienne / Loos, Ruth J F / North, Kari E / Lindgren, Cecilia M

    Nature genetics

    2019  Volume 51, Issue 3, Page(s) 452–469

    Abstract: Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site ... ...

    Abstract Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
    MeSH term(s) Animals ; Body Fat Distribution/methods ; Body Mass Index ; Case-Control Studies ; Drosophila/genetics ; Exome/genetics ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Genome-Wide Association Study/methods ; Homeostasis/genetics ; Humans ; Lipids/genetics ; Male ; Proteins/genetics ; Risk Factors ; Waist-Hip Ratio/methods
    Chemical Substances Lipids ; Proteins
    Language English
    Publishing date 2019-02-18
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-018-0334-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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