Results 131 to 140 of about 11,305,394 (400)

The Human Mitochondrial Genome Encodes for an Interferon-Responsive Host Defense Peptide [PDF]

, 2023
Michelle C. Rice, M Imun, SW Jung, CY Park, JS Kim, RW Lai, CR Barr, JM Son, K Tor, E Kim, RJ Lu, Ira L. Cohen, BA Benayoun, Changhan Lee   +13 more
openalex   +1 more source

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Diffusion Approximations for Demographic Inference: DaDi [PDF]

, 2010
Models of demographic history (population sizes, migration rates, and divergence times) inferred from genetic data complement archeology and serve as null models in genome scans for selection. Most current inference methods are computationally limited to
Carlos D. Bustamante, Ryan D. Hernandez, Ryan N. Gutenkunst, Scott H. Williamson   +3 more
core   +1 more source

A genome-wide case-only test for the detection of digenic inheritance in human exomes [PDF]

, 2020
Gaspard Kerner, Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T. Timberlake, Jacinta Bustamante, Richard P. Lifton, Jean‐Laurent Casanova, Laurent Abel   +8 more
openalex   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

Genome Medicine
Background Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute.
Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah J. Lindsay, Qin Qin Huang, Erwan Delage, Sana Amanat, Hilary S. Wong, Helen V. Firth, Matthew E. Hurles, Michael A. Simpson, Elizabeth J. Radford, Hilary C. Martin   +12 more
doaj   +1 more source

Tumor induction by disruption of the Dnmt1, PCNA and UHRF1 interactions. [PDF]

, 2008
The low level of DNA methylation in tumors compared to the level of DNA methylation in their normal-tissue counterparts or global DNA hypomethylation was one of the first epigenetic alterations to be found in human cancer^1,2^.
Audrey Geairon, Emilie Debien, Eric Hervouet, Francois Vallette, Helene Rogniaux, Lisenn Lalier, Mathilde Cheray, Pierre-Francois Cartron   +7 more
core   +1 more source

The neural crest‐associated gene ERRFI1 is involved in melanoma progression and resistance toward targeted therapy

Molecular Oncology, EarlyView.
ERRFI1, a neural crest (NC)‐associated gene, was upregulated in melanoma and negatively correlated with the expression of melanocytic differentiation markers and the susceptibility of melanoma cells toward BRAF inhibitors (BRAFi). Knocking down ERRFI1 significantly increased the sensitivity of melanoma cells to BRAFi.
Nina Wang, Qian Sun, Daniel Novak, Lei Zhu, Juliane Poelchen, Tamara Steinfass, Yiman Wang, Viktor Umansky, Jochen Utikal   +8 more
wiley   +1 more source

K-mer analysis of long-read alignment pileups for structural variant genotyping

Nature Communications
Accurately genotyping structural variant (SV) alleles is crucial to genomics research. We present a novel method (kanpig) for genotyping SVs that leverages variant graphs and k-mer vectors to rapidly generate accurate SV genotypes.
Adam C. English, Fabio Cunial, Ginger A. Metcalf, Richard A. Gibbs, Fritz J. Sedlazeck   +4 more
doaj   +1 more source

Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes [PDF]

, 2003
Zeyu Zhang
openalex   +1 more source