Results 91 to 100 of about 1,210,893 (313)

Patient‐specific pharmacogenomics demonstrates xCT as predictive therapeutic target in colon cancer with possible implications in tumor connectivity

Molecular Oncology, EarlyView.
This study integrates transcriptomic profiling of matched tumor and healthy tissues from 32 colorectal cancer patients with functional validation in patient‐derived organoids, revealing dysregulated metabolic programs driven by overexpressed xCT (SLC7A11) and SLC3A2, identifying an oncogenic cystine/glutamate transporter signature linked to ...
Marco Strecker, Keren Zohar, Martin Böttcher, Thomas Wartmann, Henry Freudenstein, Maximilian Doelling, Mihailo Andric, Wenjie Shi, Or Kakhlon, Katrin Hippe, Beatrix Jahnke, Dimitrios Mougiakakos, Franziska Baenke, Daniel Stange, Roland S. Croner, Michal Linial, Ulf D. Kahlert   +16 more
wiley   +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

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

Author Correction: High-depth African genomes inform human migration and health [PDF]

, 2021
Ananyo Choudhury, Shaun Aron, Laura R. Botigué, Dhriti Sengupta, Gerrit Botha, Taoufik Bensellak, Gordon Wells, Judit Kumuthini, Daniel Shriner, Yasmina Jaufeerally Fakim, Anisah W. Ghoorah, Eileen Dareng, Trust Odia, Oluwadamilare Falola, Ezekiel Adebiyi, Scott Hazelhurst, Gaston K. Mazandu, Oscar A. Nyangiri, Mamana Mbiyavanga, Alia Benkahla, Samar K. Kassim, Nicola Mulder, Sally N. Adebamowo, Emile R. Chimusa, Donna M. Muzny, Ginger Metcalf, Richard A. Gibbs, Charles N. Rotimi, Michèle Ramsay, Adebowale Adeyemo, Zané Lombard, Neil A. Hanchard   +31 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

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

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

X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies

BMC Genomics
Background X chromosome inactivation (XCI) refers to silencing of genes on one copy of the X chromosome in XX females, resulting in dosage compensation between XX females and XY males.
Daniel Shriner, Ayo P. Doumatey, Lin Lei, Mateus H. Gouveia, Karlijn A. C. Meeks, Elisabeth F. Heuston, Jie Zhou, Adebowale A. Adeyemo, Charles N. Rotimi   +8 more
doaj   +1 more source

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source

Measuring (Mis)trust in the age of COVID-19: viewpoints of vaccine clinical trial participation among individuals living with sickle cell disease

BMC Public Health
Background COVID-19 vaccine efficacy was determined by the participation of individuals from diverse backgrounds in clinical trials. While these trials recruited participants with chronic conditions, little is known about how sentiments of mistrust ...
Khadijah Abdallah, Kiana Amini, Hasmin C. Ramirez, Madison Keller, Diba Seddighi, Marilyn S. Baffoe-Bonnie, Shameka Thomas, Vence L. Bonham, Ashley J. Buscetta   +8 more
doaj   +1 more source