Works matching DE "HUMAN genome"

Results: 5000

Presentación (Núm. 60 RDGH).

Published in:

Revista de Derecho y Genoma Humano, 2024, n. 60, p. 11, doi. 10.1387/rdgh.27357

By:

Jiménez, Pilar Nicolás;
Armaza Armaza, Emilio José

Publication type:

Article

Genomic Approaches to Understanding and Treating Breast Cancer.

Published in:

Breast Disease, 2004, v. 19, n. 1, p. 35, doi. 10.3233/BD-2004-19106

By:

Fuqua, Suzanne A.W.;
Chang, Jenny C.;
Hilsenbeck, Susan G.

Publication type:

Article

Unlocking Secrets of the Cancer Genome.

Published in:

Breast Disease, 2004, v. 19, n. 1, p. 1, doi. 10.3233/BD-2004-19101

By:

Green, Jeffrey E.

Publication type:

Article

Bioinformatics tool in Identification of the Structural and Functional Impact Of ACE Isoform 1 precursor gene.

Published in:

Clinica Terapeutica, 2025, v. 176, n. 3, p. 324, doi. 10.7417/CT.2025.5229

By:

Pai, D.;
Adiga, U.;
Adiga, S.;
Chaitra, D.;
Shetty, A.;
Krishna, L.

Publication type:

Article

Short tandem repeat variants are possibly associated with RNA secondary structure and gene expression.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0326355

By:

Kinney, Nick;
Pathak, Dikshya;
Evans, Emma;
Arias, Paola

Publication type:

Article

Missense variants pathogenicity annotation from homologous proteins Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 5, p. 1, doi. 10.1093/bioinformatics/btaf305

By:

Ruiz-Alías, Gabriel;
Soldevila, Sergi;
Altafaj, Xavier;
Cordomí, Arnau;
Olivella, Mireia

Publication type:

Article

Exploring the relationship between genetic polymorphisms and cancer in the Bangladeshi population.

Published in:

Journal of the Bangladesh Academy of Sciences, 2025, v. 49, n. 1, p. 1, doi. 10.3329/jbas.v49i1.81802

By:

Ahmed, Hasib Uddin;
Hafiz, Abdul;
Towhidul Islam, M. M.;
Kabir, Yearul

Publication type:

Article

Association of Human Endogenous Retrovirus HERV-K18 Variant with Bipolar Disorder Type I.

Published in:

Clinical Psychopharmacology & Neuroscience, 2025, v. 23, n. 2, p. 278, doi. 10.9758/cpn.24.1242

By:

Yegin, Zeynep;
Sarisoy, Gokhan;
Avsar, Cumhur;
Aral, Ayse Erguner;
Koc, Haydar

Publication type:

Article

Genome-wide identification and analysis of recurring patterns of epigenetic variation across individuals.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08179-5

By:

Zou, Jennifer;
Maciejewski, Emily;
Ernst, Jason

Publication type:

Article

FROM THE EDITOR.

Published in:

Family Systems: A Journal of Natural Systems Thinking in Psychiatry & the Sciences, 2025, v. 19, n. 2, p. 99

By:

Noone, Robert J.

Publication type:

Article

Causal network inference of cis- and trans-gene regulation of expression quantitative trait loci across human tissues.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf064

By:

Kvamme, Jarred;
Badsha, Md Bahadur;
Martin, Evan A;
Wu, Jiayu;
Wang, Xiaoyue;
Fu, Audrey Qiuyan

Publication type:

Article

Inferring demographic and selective histories from population genomic data using a 2-step approach in species with coding-sparse genomes: an application to human data Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 4, p. 1, doi. 10.1093/g3journal/jkaf019

By:

Soni, Vivak;
Jensen, Jeffrey D

Publication type:

Article

Flexible, production-scale, human whole genome sequencing on a benchtop sequencer.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11741-4

By:

Green, Kevin;
Krajacich, Benjamin;
Wiseman, Kelly;
Mains, Peter T.;
Robertson, Samantha;
Billings, Sophie;
McCowin, Marina;
Sudkamp, Mitch;
Lo, Ching Shing;
Lajoie, Bryan R.;
Kruglyak, Semyon;
Levy, Shawn;
Zhao, Junhua

Publication type:

Article

Class-balanced negative training sets for improving classifier model predictions of enhancer-promoter interactions.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06171-8

By:

Maruyama, Osamu;
Koga, Tsukasa

Publication type:

Article

Circular RNA-mediated inverse prime editing in human cells.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59120-7

By:

Liang, Ronghong;
Wang, Shan;
Cai, Yibo;
Li, Zhenyu;
Li, Ka Ming;
Wei, Jingjing;
Sun, Chao;
Zhu, Haocheng;
Chen, Kunling;
Gao, Caixia

Publication type:

Article

Minimal repeats are ubiquitous sites of crossover and recombination across the human genome.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11734-3

By:

Ohadi, Mina;
Tajeddin, Nahid;
Bayat, Hadi;
Annear, Dale J;
Maddi, Ali M. A.;
Khorshid, Hamid R. Khorram;
Kavousi, Kaveh;
Delbari, Ahmad;
Nikkhah, Alireza;
Arabfard, Masoud

Publication type:

Article

Emergence versus Reductionism in Science Publications.

Published in:

Journal of Health & Social Behavior, 2025, v. 66, n. 2, p. 139, doi. 10.1177/00221465251335041

By:

Duster, Troy

Publication type:

Article

Molecular Profiling Assays in Breast Cancer: Beyond Prime Time and Into Syndication.

Published in:

Oncology (08909091), 2012, v. 26, n. 4, p. 362

By:

MARGENTHALER, JULIE A.;
CYR, AMY E.

Publication type:

Article

NIH Launches Comprehensive Effort to Explore Cancer Genomics.

Published in:: Oncology (08909091), 2006, v. 20, n. 3, p. 216
Publication type:: Article

Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 1, doi. 10.1007/s10048-005-0020-2

By:

Moran, L.;
Duke, D.;
Deprez, M.;
Dexter, D.;
Pearce, R.;
Graeber, M.

Publication type:

Article

A genome-wide map of adeno-associated virus-mediated human gene targeting.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 11, p. 969, doi. 10.1038/nsmb.2895

By:

Deyle, David R;
Hansen, R Scott;
Cornea, Anda M;
Li, Li B;
Burt, Amber A;
Alexander, Ian E;
Sandstrom, Richard S;
Stamatoyannopoulos, John A;
Wei, Chia-Lin;
Russell, David W

Publication type:

Article

Mechanisms for U2AF to define 3′ splice sites and regulate alternative splicing in the human genome.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 11, p. 997, doi. 10.1038/nsmb.2906

By:

Shao, Changwei;
Yang, Bo;
Wu, Tongbin;
Huang, Jie;
Tang, Peng;
Zhou, Yu;
Zhou, Jie;
Qiu, Jinsong;
Jiang, Li;
Li, Hairi;
Chen, Geng;
Sun, Hui;
Zhang, Yi;
Denise, Alain;
Zhang, Dong-Er;
Fu, Xiang-Dong

Publication type:

Article

The Microprocessor controls the activity of mammalian retrotransposons.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 10, p. 1173, doi. 10.1038/nsmb.2658

By:

Heras, Sara R;
Macias, Sara;
Plass, Mireya;
Fernandez, Noemí;
Cano, David;
Eyras, Eduardo;
Garcia-Perez, José L;
Cáceres, Javier F

Publication type:

Article

Polyadenylation site-induced decay of upstream transcripts enforces promoter directionality.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 8, p. 923, doi. 10.1038/nsmb.2640

By:

Ntini, Evgenia;
Järvelin, Aino I;
Bornholdt, Jette;
Chen, Yun;
Boyd, Mette;
Jørgensen, Mette;
Andersson, Robin;
Hoof, Ilka;
Schein, Aleks;
Andersen, Peter R;
Andersen, Pia K;
Preker, Pascal;
Valen, Eivind;
Zhao, Xiaobei;
Pelechano, Vicent;
Steinmetz, Lars M;
Sandelin, Albin;
Jensen, Torben Heick

Publication type:

Article

Structure of a ubiquitin-loaded HECT ligase reveals the molecular basis for catalytic priming.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 6, p. 696, doi. 10.1038/nsmb.2566

By:

Maspero, Elena;
Valentini, Eleonora;
Mari, Sara;
Cecatiello, Valentina;
Soffientini, Paolo;
Pasqualato, Sebastiano;
Polo, Simona

Publication type:

Article

Histone chaperones in nucleosome assembly and human disease.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 1, p. 14, doi. 10.1038/nsmb.2461

By:

Burgess, Rebecca J;
Zhang, Zhiguo

Publication type:

Article

Trimeric structure and flexibility of the L1ORF1 protein in human L1 retrotransposition.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 9, p. 1006, doi. 10.1038/nsmb.2097

By:

Khazina, Elena;
Truffault, Vincent;
Büttner, Regina;
Schmidt, Steffen;
Coles, Murray;
Weichenrieder, Oliver

Publication type:

Article

Impact of chromatin structure on sequence variability in the human genome.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 4, p. 510, doi. 10.1038/nsmb.2012

By:

Tolstorukov, Michael Y.;
Volfovsky, Natalia;
Stephens, Robert M.;
Park, Peter J.

Publication type:

Article

The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 10, p. 1263, doi. 10.1038/nsmb.1905

By:

Thorslund, Tina;
McIlwraith, Michael J.;
Compton, Sarah A.;
Lekomtsev, Sergey;
Petronczki, Mark;
Griffith, Jack D.;
West, Stephen C.

Publication type:

Article

Pol II and its associated epigenetic marks are present at Pol III–transcribed noncoding RNA genes.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 5, p. 629, doi. 10.1038/nsmb.1806

By:

Barski, Artem;
Chepelev, Iouri;
Liko, Dritan;
Cuddapah, Suresh;
Fleming, Alastair B.;
Birch, Joanna;
Cui, Kairong;
White, Robert J.;
Zhao, Keji

Publication type:

Article

Histone chaperones: an escort network regulating histone traffic.

Published in:

Nature Structural & Molecular Biology, 2007, v. 14, n. 11, p. 997, doi. 10.1038/nsmb1318

By:

De Koning, Leanne;
Corpet, Armelle;
Haber, James E.;
Almouzni, Geneviève

Publication type:

Article

Small interfering RNAs to the rescue: blocking L1 retrotransposition.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 9, p. 758, doi. 10.1038/nsmb0906-758

By:

Soifer, Harris S.;
Rossi, John J.

Publication type:

Article

L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 9, p. 763, doi. 10.1038/nsmb1141

By:

Yang, Nuo;
Kazazian Jr., Haig H.

Publication type:

Article

Involvement of AGO1 and AGO2 in mammalian transcriptional silencing.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 9, p. 787, doi. 10.1038/nsmb1140

By:

Janowski, Bethany A.;
Huffman, Kenneth E.;
Schwartz, Jacob C.;
Ram, Rosalyn;
Nordsell, Robert;
Shames, David S.;
Minna, John D.;
Corey, David R.

Publication type:

Article

Chromatin, transcript elongation and alternative splicing.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 1, p. 5, doi. 10.1038/nsmb0106-5

By:

Kornblihtt, Alberto R.

Publication type:

Article

Back to the Future!

Published in:

Nature Reviews Microbiology, 2013, v. 11, n. 9, p. 600, doi. 10.1038/nrmicro3099

By:

Dordel, Janina;
Reuter, Sandra

Publication type:

Article

In Brief.

Published in:: Nature Reviews Microbiology, 2011, v. 9, n. 4, p. 226, doi. 10.1038/nrmicro2555
Publication type:: Article

Detecting genomic islands using bioinformatics approaches.

Published in:

Nature Reviews Microbiology, 2010, v. 8, n. 5, p. 373, doi. 10.1038/nrmicro2350

By:

Langille, Morgan G. I.;
Hsiao, William W. L.;
Brinkman, Fiona S. L.

Publication type:

Article

A glut from the gut: metagenomics takes a giant step foward.

Published in:

Nature Reviews Microbiology, 2010, v. 8, n. 5, p. 315, doi. 10.1038/nrmicro2363

By:

Walker, Alan

Publication type:

Article

Genome watch: Probiotics stick it to the man.

Published in:

Nature Reviews Microbiology, 2009, v. 7, n. 12, p. 843, doi. 10.1038/nrmicro2271

By:

Walker, Alan

Publication type:

Article

MicroRNAs: expression, avoidance and subversion by vertebrate viruses.

Published in:

Nature Reviews Microbiology, 2006, v. 4, n. 9, p. 651, doi. 10.1038/nrmicro1473

By:

Sarnow, Peter;
Jopling, Catherine L.;
Norman, Kara L.;
Schütz, Sylvia;
Wehner, Karen A.

Publication type:

Article

Snapshot of a superorganism.

Published in:

Nature Reviews Microbiology, 2006, v. 4, n. 7, p. 490, doi. 10.1038/nrmicro1448

By:

Molloy, Sheilagh

Publication type:

Article

Genome watch: Fungi behaving badly.

Published in:

Nature Reviews Microbiology, 2005, v. 3, n. 11, p. 832, doi. 10.1038/nrmicro1270

By:

Pain, Arnab

Publication type:

Article

In Brief.

Published in:: Nature Reviews Microbiology, 2004, v. 2, n. 11, p. 855, doi. 10.1038/nrmicro1041
Publication type:: Article

Genome watch: Some like it hot.

Published in:

Nature Reviews Microbiology, 2004, v. 2, n. 9, p. 690, doi. 10.1038/nrmicro980

By:

Sebaihia, Mohammed;
Crossman, Lisa;
Cerdeño-Tàrraga, Ana;
Holden, Matthew

Publication type:

Article

Gene expression programs in response to hypoxia: cell type specificity and prognostic significance in human cancers.

Published in:

2006

By:

Chi, Jen-Tsan;
Wang, Zhen;
Nuyten, Dimitry S. A.;
Rodriguez, Edwin H.;
Schaner, Marci E.;
Salim, Ali;
Wang, Yun;
Kristensen, Gunnar B.;
Helland, Åslaug;
Børresen-Dale, Anne-Lise;
Giaccia, Amato;
Longaker, Michael T.;
Hastie, Trevor;
Yang, George P.;
van de Vijver, Marc J.;
Brown, Patrick O.;
Helland, Aslaug;
Børresen-Dale, Anne-Lise

Publication type:

journal article

Local Literature Bias in Genetic Epidemiology: An Empirical Evaluation of the Chinese Literature.

Published in:

PLoS Medicine, 2005, v. 2, n. 12, p. e334, doi. 10.1371/journal.pmed.0020334

By:

Zhenglun Pan;
Trikalinos, Thomas A.;
Kavvoura, Fotini K.;
Lau, Joseph;
Ioannidis, John P. A.

Publication type:

Article

Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 9, p. 2257, doi. 10.1007/s10815-024-03176-9

By:

Kohlrausch, Fabiana B.;
Wang, Fang;
McKerrow, Wilson;
Grivainis, Mark;
Fenyo, David;
Keefe, David L.

Publication type:

Article

Germline genome editing of human IVF embryos should not be subject to overly stringent restrictions.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 7, p. 1733, doi. 10.1007/s10815-024-03174-x

By:

Smith, Kevin Richard

Publication type:

Article

Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1307, doi. 10.1007/s10815-024-03070-4

By:

Ruan, Lewen;
Gu, Meng;
Geng, Hao;
Duan, Zongliu;
Yu, Hui;
Shao, Zhongmei;
Li, Kuokuo;
Lv, Mingrong;
Tang, Dongdong

Publication type:

Article