Search Results - "ENCODE"

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis by Carlos Córdova-Fletes, Martha M. Rangel-Sosa, Lizeth A. Martínez-Jacobo, Luis Eduardo Becerra-Solano, Carmen Araceli Arellano-Valdés, José Alberto Tlacuilo-Parra, Kame Alberto Galán-Huerta, Ana María Rivas-Estilla, Angélica Alejandra Hernandez-Orozco, José Elías García-Ortiz

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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma by Wong Nora, Ferrando Barbara, Pasini Barbara, Menko Fred H, Oomen Peter HN, Jansen Jeroen C, Weiss Marjan M, van Minderhout Ivonne, Bayley Jean-Pierre, Alpert Lesley C, Williams Rosie, Blair Edward, Devilee Peter, Taschner Peter EM

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A New Strategy for the Rapid Identification and Validation of the Direct Targets of Aconitine-Induced Cardiotoxicity by Wei J, Fan S, Yu H, Shu L, Li Y

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Defining a novel leptin-melanocortin-kisspeptin pathway involved in the metabolic control of puberty by Maria Manfredi-Lozano, Juan Roa, Francisco Ruiz-Pino, Richard Piet, David Garcia-Galiano, Rafael Pineda, Aurora Zamora, Silvia Leon, Miguel A. Sanchez-Garrido, Antonio Romero-Ruiz, Carlos Dieguez, Maria Jesus Vazquez, Allan E. Herbison, Leonor Pinilla, Manuel Tena-Sempere

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Genome-wide association study identifies three novel genetic markers associated with elite endurance performance by Ildus I Ahmetov, Nickolay A Kulemin, Daniil V Popov, Vladimir A Naumov, Egor B Akimov, Yan R Bravy, Emiliya S Egorova, Albina A Galeeva, Edward V Generozov, Elena S Kostryukova, Andrey K Larin, Leysan J Mustafina, Elena A Ospanova, Alexander V Pavlenko, Linda M Starnes, Piotr Żmijewski, Dmitry G Alexeev, Olga L Vinogradova, Vadim M Govorun

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SLC2As as diagnostic markers and therapeutic targets in LUAD patients through bioinformatic analysis by Yanli Zhang, Yanli Zhang, Yanli Zhang, Han Qin, Han Qin, Jing Bian, Zhanchuan Ma, Zhanchuan Ma, Huanfa Yi, Huanfa Yi

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Molecular detection of extended spectrum β-lactamases, metallo β-lactamases, and Amp-Cβ-lactamase genes expressed by multiple drug resistant Pseudomonas aeruginosa isolates collect... by Mahfouz Nasser, Mahmoud Ogaili, Snehal Palwe, Arun S. Kharat

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X-treme loss of sequence diversity linked to neo-X chromosomes in filarial nematodes by John Mattick, Silvia Libro, Robin Bromley, Wanpen Chaicumpa, Matthew Chung, Darren Cook, Mohammad Behram Khan, Nikhil Kumar, Yee-Ling Lau, Shailja Misra-Bhattacharya, Ramakrishna Rao, Lisa Sadzewicz, Atiporn Saeung, Mohd Shahab, Benjamin C. Sparklin, Andrew Steven, Joseph D. Turner, Luke J. Tallon, Mark J. Taylor, Andrew R. Moorhead, Michelle Michalski, Jeremy M. Foster, Julie C. Dunning Hotopp

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Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India by Mehrotra Sanjana, Fakiola Michaela, Oommen Joyce, Jamieson Sarra E, Mishra Anshuman, Sudarshan Medhavi, Tiwary Puja, Rani Deepa, Thangaraj Kumarasamy, Rai Madhukar, Sundar Shyam, Blackwell Jenefer M

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ABCG2/V-ATPase was associated with the drug resistance and tumor metastasis of esophageal squamous cancer cells by Huang Lijun, Lu Qiang, Han Yong, Li Zhe, Zhang Zhipei, Li Xiaofei

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<i>Limosilactobacillus fermentum</i> 3872 That Produces Class III Bacteriocin Forms Co-Aggregates with the Antibiotic-Resistant <i>Staphylococcus aureus</i> Strains and Induces The... by Vyacheslav M. Abramov, Igor V. Kosarev, Andrey V. Machulin, Tatiana V. Priputnevich, Evgenia I. Deryusheva, Ekaterina L. Nemashkalova, Irina O. Chikileva, Tatiana N. Abashina, Alexander N. Panin, Vyacheslav G. Melnikov, Nataliya E. Suzina, Ilia N. Nikonov, Marina V. Selina, Valentin S. Khlebnikov, Vadim K. Sakulin, Vladimir A. Samoilenko, Alexey B. Gordeev, Gennady T. Sukhikh, Vladimir N. Uversky, Andrey V. Karlyshev

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Identification and characterization of seven new exon 11-associated splice variants of the rat mu opioid receptor gene, OPRM1 by Pasternak Gavril W, Rossi Grace C, Xu Mingming, Xu Jin, Pan Ying-Xian

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Network science approach elucidates integrative genomic-metabolomic signature of antidepressant response and lifetime history of attempted suicide in adults with major depressive d... by Caroline W. Grant, Angelina R. Wilton, Angelina R. Wilton, Rima Kaddurah-Daouk, Michelle Skime, Joanna Biernacka, Taryn Mayes, Thomas Carmody, Liewei Wang, Konstantinos Lazaridis, Richard Weinshilboum, William V. Bobo, Madhukar H. Trivedi, Paul E. Croarkin, Arjun P. Athreya, Arjun P. Athreya

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Diagnosis of gilbert's syndrome via pyrosequencing in clinical practice by L. I. Melnikova, L. Yu. Ilchenko, E. A. Dunaeva, M. V. Kozitsyna, O. P. Dribnokhodova, K. O. Mironov

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Characterisation of a plancitoxin-1-like DNase II gene in Trichinella spiralis. by Chengshui Liao, Mingyuan Liu, Xue Bai, Pan Liu, Xuelin Wang, Tingting Li, Bin Tang, He Gao, Qingsong Sun, Xidong Liu, Ying Zhao, Feng Wang, Xiuping Wu, Pascal Boireau, Xiaolei Liu

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A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis by Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li, Li Wang

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A novel water-based anti-aging suncare formulation provides multifaceted protection and repair against environmental aggressors: evidence from in vitro, ex vivo, and clinical studi... by Narda M, Ramos-Lopez D, Bustos J, Trullàs C, Granger C

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Phenotypic and Genotypic Characteristics of Antimicrobial Resistance in <i>Citrobacter freundii</i> Isolated from Domestic Ducks (<i>Anas platyrhynchos domesticus</i>) in Banglades... by Tarana Ahmed, Md. Saiful Islam, Najmul Haider, Linzy Elton, Badrul Hasan, Mohammad Nuruzzaman, Md. Tanvir Rahman, S. M. Lutful Kabir, Md. Shahidur Rahman Khan

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Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report by N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus

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Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome by Yoon Sunwoo, Naye Choi, Naye Choi, Jeesu Min, Jeesu Min, Jihyun Kim, Jihyun Kim, Yo Han Ahn, Yo Han Ahn, Hee Gyung Kang, Hee Gyung Kang

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