Results 91 to 100 of about 397,235 (339)

Genomic Selective Constraints in Murid Noncoding DNA [PDF]

, 2006
Recent work has suggested that there are many more selectively constrained, functional noncoding than coding sites in mammalian genomes. However, little is known about how selective constraint varies amongst different classes of noncoding DNA.
Altschul, Bejerano, Bejerano, Boissinot, Bray, Britten, Casane, Chamary, Chamary, Cooper, Cooper, Daniel J. Gaffney, Deininger, Dermitzakis, Dermitzakis, Dermitzakis, Eisenberg, Eyre-Walker, Fairbrother, Frazer, Gaffney, Gibbs, Hanawalt, Hubbard, Jaeger, Kamal, Keightley, Keightley, Keightley, Keightley, Kimura, Kondrashov, Kondrashov, Lander, Li, Margulies, Meunier, Mi, Mikkelsen, Nagylaki, Nelson, Parmley, Peter D. Keightley, Seoighe, Siepel, Sironi, Sorek, Tamura, Thomas, Thompson, Urrutia, Vinogradov, Vinogradov, Waterston, Webster, Yelin   +55 more
core   +7 more sources

Circularly permuted tRNA genes: their expression and implications for their physiological relevance and development.

Frontiers in Genetics, 2014
A number of genome analyses and searches using programs that focus on the RNA-specific bulge-helix-bulge (BHB) motif have uncovered a wide variety of disrupted tRNA genes.
Akiko eSoma
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +2 more sources

Intronic MicroRNA (miRNA) [PDF]

BioMed Research International, 2006
Nearly 97% of the human genome is composed of noncoding DNA, which varies from one species to another. Changes in these sequences often manifest themselves in clinical and circumstantial malfunction. Numerous genes in these non‐protein‐coding regions encode microRNAs, which are responsible for RNA‐mediated gene silencing through RNA interference (RNAi)‐
Shi-Lung Lin, Shao-Yao Ying, Joseph D. Miller   +2 more
openaire   +2 more sources

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Widespread Separation of the Polypyrimidine Tract From 3′ AG by G Tracts in Association With Alternative Exons in Metazoa and Plants

Frontiers in Genetics, 2019
At the end of introns, the polypyrimidine tract (Py) is often close to the 3′ AG in a consensus (Y)20NCAGgt in humans. Interestingly, we have found that they could also be separated by purine-rich elements including G tracts in thousands of human genes ...
Hai Nguyen, Hai Nguyen, Jiuyong Xie
doaj   +1 more source

Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study [PDF]

, 2007
BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS:We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a ...
Benjamin, Emelia J, D'Agostino, Ralph B, Govindaraju, Raju, Guo, Chao-Yu, Karasik, David, Kelly-Hayes, Margaret, Kiel, Douglas P, Lunetta, Kathryn L, Massaro, Joseph M, Murabito, Joanne M, Pencina, Michael J, Seshadri, Sudha   +11 more
core   +6 more sources

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

Advanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez, Nicolás Alcaraz, Karla Torres‐Arciga, José Antonio Ocampo‐Cervantes, Alejandra Cervera, Clementina Castro‐Hernández, Cynthia Gabriela Sámano‐Salazar, Ernesto Soto‐Reyes, Rodrigo González‐Barrios   +8 more
wiley   +1 more source

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source