Results 41 to 50 of about 54,144 (209)

P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests

Genetics in Medicine Open, 2023
Kimberly Gall, Julie Hathaway, Victoria Howell, Alicia Scocchia, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertelli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo   +17 more
doaj   +1 more source

Reclassification of early stage breast cancer into treatment groups by combining the use of immunohistochemistry and microarray analysis

South African Journal of Science, 2019
Immunohistochemistry (IHC) is routinely used to approximate breast cancer intrinsic subtypes, which were initially discovered by microarray analysis.
Kathleen A. Grant, Ettienne J. Myburgh, Elizabeth Murray, Fredrieka M. Pienaar, Martin Kidd, Colleen A. Wright, Maritha J. Kotze   +6 more
doaj   +1 more source

Molecular Glue cc‐885 Inhibits VHL‐Deficient Clear Cell Renal Cell Carcinoma via ETS1 Degradation

Advanced Science, EarlyView.
VHL‐deficient kidney cancer lacks effective treatments. This study reveals that the molecular glue degrader cc‐885 hijacks the cellular recycling system to selectively destroy the oncogenic protein ETS1, effectively killing VHL‐mutant tumors. Combining CC‐885 with the approved drug belzutifan achieves powerful synergy, offering a promising new ...
Taowei Yang, Qihao Li, Kun Ye, Kezhi Liu, Mi Zhou, Minyu Chen, Lican Liao, Kangbo Huang, Zhu Wang, Qiong Deng, Jieyan Wang, Meiyu Jin, Xu Chen, Hui Liang, Jiaxing Zhang, Junhang Luo   +15 more
wiley   +1 more source

Disruption of Treg Homeostasis in Rheumatoid Arthritis via Ferroptosis‐Mediated ETC Collapse and TXK‐STAT3/PLCγ1 Activation

Advanced Science, EarlyView.
In rheumatoid arthritis, synovial Tregs accumulate but are functionally impaired due to iron overload‐induced ferroptosis. This triggers mitochondrial dysfunction and TXK tyrosine kinase‐mediated signaling, leading to Treg destabilization and inflammation.
Jingrong Chen, Xiao Guan, Kexu Xiong, Xiaoyi Shi, Luyao Wu, Chuanxin Su, Jun Zhao, Rongzhen Liang, Huimin Wang, Junlong Dang, Ye Chen, Yiding Xiong, Chi Zhou, Futao Zhao, Zhenhang Zhu, Xiaoli Fan, Li Zhou, Nancy Olsen, Yutong Jiang, Song Guo Zheng   +19 more
wiley   +1 more source

P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia

Genetics in Medicine Open, 2023
Victoria Howell, Johanna Huusko, Manuel Bernal, Allison Faber, Satu Valo, Kimberly Gall, Lotta Koskinen, Tiia Kangas-Kontio, Inka Saarinen, Ville Kytölä, Pauli Siivonen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo   +16 more
doaj   +1 more source

Blueprinting Approach in Support of Cloud Computing

Future Internet, 2012
Current cloud service offerings, i.e., Software-as-a-service (SaaS), Platform-as-a-service (PaaS) and Infrastructure-as-a-service (IaaS) offerings are often provided as monolithic, one-size-fits-all solutions and give little or no room for customization.
Willem-Jan van den Heuvel, Mike P. Papazoglou, Francesco Lelli, Dinh Khoa Nguyen   +3 more
doaj   +1 more source

β‐Elemene Rescues Radiation‐Induced Enteritis by Orchestrating a Host‐Microbiome Circuit That Fuels Epigenetic DNA Repair

Advanced Science, EarlyView.
This study elucidates that β‐elemene promotes cellular uptake of L. gasseri‐derived lactate by enhancing the membrane translocation of MCT1 in a CD147‐dependent manner. Intracellular lactate, through the lactylation of RBBP4 at the K26 site, recruits EP300 to the promoter regions of downstream genes (POLD1/POLD3), catalyzing H3K27ac modification.
Jiancheng He, Jiapeng Bao, Shukang Deng, Weijie Zang, Haoming Yan, Zihao Zhao, Guangze Zhang, Ruiqing Liu, Junjie Chen, Yilin Hu, Wanjiang Xue   +10 more
wiley   +1 more source

Two Routes to Land: Genomic Underpinnings of Parallel Aerial Egg Deposition in Aquatic Old‐World Pila and New‐World Pomacea (Ampullariidae)

Advanced Science, EarlyView.
Comparative genomics of Gondwana‐diverged Pila and Pomacea reveals parallel evolution of aerial oviposition. Convergent chromosomal rearrangements reshape regulatory landscapes within topologically associating domains. Lineage‐specific gene family expansions and viral‐derived perivitelline proteins (PV1) underpin desiccation resistance.
Yufei Zhou, Huawei Mu, Xueying Nie, Yue Gao, Hui Wang, Ling Fang, Tiangang Luan, Monthon Ganmanee, Jian‐Wen Qiu, Jin Sun, Jack Chi‐Ho Ip   +10 more
wiley   +1 more source

P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants

Genetics in Medicine Open, 2023
Alicia Scocchia, Allison Sluyters, Margarita Andreevskaya, Kirsi Alakurtti, Paivi Kokkonen, Kimberly Gall, Julie Hathaway, Victoria Howell, Lotta Koskinen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo   +14 more
doaj   +1 more source

Isosteric Substitution Enables Rational Design of Two‐Dimensional Energetic Crystals

Advanced Science, EarlyView.
Isosteric substitution transforms a classical nitro–amine motif into two‐dimensional aminofurazans with performance beyond TATB. ABSTRACT Two‐dimensional (2D) energetic crystals dissipate mechanical insult via interlayer slip, yet their molecular design space remains narrow.
Linyuan Wen, Wentong Tu, Tao Yu, Chao Chen, Zhixiang Zhang, Zhixiang Xie, Yingzhe Liu   +6 more
wiley   +1 more source