Results 171 to 180 of about 10,288,978 (312)

Exploring the role of febuxostat's drug target XOR in erectile dysfunction: insights from human genetics and rat models. [PDF]

Front Med (Lausanne)
Chen Z, Li Y, Meng C, Li X, Liao H, Li X, Zeng Y, Li X, Zhou T, Deng Q.   +9 more
europepmc   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly. [PDF]

HGG Adv
Xu H, Liu Z, Hamdan FF, Wu S, He M, Wang D, Pan H, Hu J, Chen Y, Michaud JL, Minassian BA, Duan J, Liao J, Su J, Hu S, Peng Y, Ye Q, Chen L.   +17 more
europepmc   +1 more source

Redox regulation meets metabolism: targeting PRDX2 to prevent hepatocellular carcinoma

Molecular Oncology, EarlyView.
PRDX2 acts as a central redox hub linking metabolic dysfunction‐associated steatohepatitis (MASH) to hepatocellular carcinoma (HCC). In normal hepatocytes, PRDX2 maintains redox balance and metabolic homeostasis under oxidative stress. In contrast, during malignant transformation, PRDX2 promotes oncogenic signaling, stemness, and tumor initiation ...
Naroa Goikoetxea‐Usandizaga, María Luz Martinez‐Chantar, Carolina Conter   +2 more
wiley   +1 more source

Integrating causal human genetics and <i>In vivo</i> transcriptomics to uncover a shared lipid-centric architecture in metabolic and neurocognitive disease. [PDF]

Front Mol Biosci
Li Y, Ni Z, Xia XY, Cheng N, Bo Y, He J, He Y, Meng XY, Wang X, Xu X.   +9 more
europepmc   +1 more source

Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics

Assay and drug development technologies, 2017
J. Pulley, J. Shirey-Rice, R. Lavieri, Rebecca N. Jerome, Nicole M. Zaleski, D. Aronoff, L. Bastarache, X. Niu, K. Holroyd, D. Roden, Eric P. Skaar, C. Niswender, L. Marnett, C. Lindsley, Leeland Ekstrom, Alan Bentley, G. Bernard, C. Hong, J. Denny   +18 more
semanticscholar   +1 more source

Dammarenediol II enhances etoposide‐induced apoptosis by targeting O‐GlcNAc transferase and Akt/GSK3β/mTOR signaling in liver cancer

Molecular Oncology, EarlyView.
Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee, Byung‐Cheol Han, Gi‐Bang Koo, Jihye Park, Mijin Kwon, Young Bin Park, Jae‐Mun Choi, Seung‐Ho Lee, Sangho Roh   +8 more
wiley   +1 more source

Human genetics suggests differing causal pathways from HMGCR inhibition to coronary artery disease and type 2 diabetes. [PDF]

Int J Epidemiol
Hwang S, Karhunen V, Patel A, Lockhart SM, Carter P, Whittaker JC, Burgess S.   +6 more
europepmc   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

Looking back at 2024 in the European Journal of Human Genetics. [PDF]

Eur J Hum Genet
McNeill A.
europepmc   +1 more source