Results 81 to 90 of about 1,856 (207)

Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing

Advanced Science
Despite the well‐documented mutation spectra of β‐thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated.
Yuhua Ye, Chao Niu, Aiping Mao, Lang Qin, Jiahan Zhan, Weijie Chen, Zhentian Liu, Tiantian Xie, Qianqian Zhang, Jiaqi Li, Li Huang, Wanli Meng, Yumeng Liu, Liuhua Liao, Junqin Cai, Riyang Liu, Xinhua Zhang, Lihong Zeng, Yaoyun Li, Bin Lin, Kui Li, Xiaoyun Hua, Binbin Huang, Honggui Qin, Yueyan Huang, Zhijing Huang, Jinquan Lao, Xiang Qu, Juanjuan Chen, Xiaoqin Feng, Qiujun Liu, Wanying Lin, Xiaoman Zhou, Yidan Liang, Xingjiang Long, Jiaofeng Qin, Lixiang Yan, Weijian Zhu, Lian Yu, Chengwu Fan, Deguo Tang, Tianyu Zhong, Jufang Tan, Zhilin Ren, Xiangmin Xu   +44 more
doaj   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

Multiple sequence alignment and third-generation sequencing

, 2023
Le séquençage d'ADN n'a cessé d'évoluer ces dernières décennies, notamment avec l'arrivée du séquençage à haut-débit. La troisième génération de séquenceurs a produit de nouvelles données, que l'on nomme {em long reads}, qui permettent d'accéder à de nouvelles informations biologiques en surmontant les contraintes des générations précédentes, telles ...
openaire   +1 more source

Stimulator of interferon genes agonist augmented antitumor immunity of osimertinib in Egfr‐mutated lung cancer

Molecular Oncology, EarlyView.
Combining osimertinib with the STING agonist ADU‐S100 activates innate and adaptive immunity to overcome the non‐inflamed microenvironment of Egfr‐mutant lung cancer. This combination increases NK and CD8+ T‐cell infiltration, associated with activation of the STING‐IRF3 pathway and local immunogenic cell death.
Jun Nishimura, Tadahiro Kuribayashi, Johannes Brägelmann, Sachi Okawa, Masataka Taoka, Shunta Mori, Tomoka Nishimura, Takaaki Tanaka, Go Makimoto, Kiichiro Ninomiya, Kammei Rai, Eiki Ichihara, Ryohei Katayama, Katsuyuki Hotta, Masahiro Tabata, Yosuke Togashi, Yoshinobu Maeda, Martin L. Sos, Katsuyuki Kiura, Kadoaki Ohashi   +19 more
wiley   +1 more source

Assessment of bacterial communities in skin ulceration in cultured sea cucumber Apostichopus japonicus (Selenka)

International Aquatic Research, 2018
To determine changes in bacterial composition in skin ulcerations in farmed sea cucumber Apostichopus japonicus, full-length 16S rRNA gene sequencing of different skin samples of A.
Yi Yang, Yuchun Li, Zhenlin Liang
doaj   +1 more source

Third-generation sequencing: any future opportunities for PGT?

Journal of Assisted Reproduction and Genetics, 2020
To investigate use of the third-generation sequencing (TGS) Oxford Nanopore system as a new approach for preimplantation genetic testing (PGT).Embryos with known structural variations underwent multiple displacement amplification to create fragments of DNA (average ~ 5 kb) suitable for sequencing on a nanopore.High-depth sequencing identified the ...
Sai, Liu, Hui, Wang, Don, Leigh, David S, Cram, Li, Wang, Yuanqing, Yao   +5 more
openaire   +3 more sources

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

A novel quinazolinone insulin receptor inhibitor and its synergy with an EGFR inhibitor in glucose‐driven glioblastoma

Molecular Oncology, EarlyView.
The novel styrylquinazolinone‐based molecule W1B effectively suppresses glioblastoma by inhibiting IGF1R and EGFR. In high‐glucose microenvironments driving tumor resistance, W1B acts synergistically with the EGFR inhibitor dacomitinib. This combination safely blocks compensatory survival signaling in zebrafish xenograft models. Showcasing promising in
Patryk Rurka, Wioleta Cieślik, Wojciech Płaziński, Katarzyna Stępnik, Anna Boguszewska‐Czubara, Elżbieta Kot, Robert Musioł, Mateusz Jasica, Anna Mrozek‐Wilczkiewicz, Katarzyna Malarz   +9 more
wiley   +1 more source