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11-20 trong số 207 kết quả
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hered...
Tác giả: Ivan A Pyankov, Valentin Gonay, Yaroslav A Stepanov, Pavel Shestun, Anna A Kostareva, Mayya V Uspenskaya, Michael G Petukhov, Andrey V Kajava
Xuất bản: United States: Journal of structural biology , 2025
Bộ sưu tập: NCBI
ddc:  785.13
 
Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm
Tác giả: Uta Flucke, Don Hayes, Laura S Hiemcke-Jiwa, Lennart A Kester, Marco J Koudijs, Marieke M B Seyger, Remco T P van Cruchten, Joost M van Gorp, Sjoerd van Helvert
Xuất bản: Germany: Virchows Archiv : an international journal of pathology , 2025
Bộ sưu tập: NCBI
ddc:  133.594
 
Leukemogenic Kras mutation reprograms multipotent progenitors to facilitate its spread through the hematopoietic system
Tác giả: Geunhyo Jang, Rosa Park, Eduardo Esteva, Pei-Feng Hsu, Jue Feng, Samik Upadhaya, Catherine M Sawai, Iannis Aifantis, David R Fooksman, Boris Reizis
Xuất bản: United States: The Journal of experimental medicine , 2025
Bộ sưu tập: NCBI
ddc:  621.27
 
The A53T Mutation in α-Synuclein Enhances Proinflammatory Activation in Human Microglia Upon Inflammatory Stimulus
Tác giả: Marine Krzisch, Bingbing Yuan, Rudolf Jaenisch, Wenyu Chen, Tatsuya Osaki, Dongdong Fu, Carrie M Garrett-Engele, Devon S Svoboda, Kristin R Andrykovich, Michael D Gallagher, Mriganka Sur
Xuất bản: United States: Biological psychiatry , 2025
Bộ sưu tập: NCBI
ddc:  006.332
 
Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation
Tác giả: Sarah Wing Yiu Poon, Brian Hon Yin Chung, Mabel Siu Chun Wong, Anita Man Ching Tsang
Xuất bản: Turkey: Journal of clinical research in pediatric endocrinology , 2025
Bộ sưu tập: NCBI
ddc:  617.057
 
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in
Tác giả: Evon DeBose-Scarlett, Andrew K Ressler, Cassi Friday, Kara K Prickett, James W Roberts, James R Gossage, Douglas A Marchuk
Xuất bản: England: Journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  658.32259
 
EGFR mutation status affects intra-tumoural heterogeneity of PD-L1 expression but not agreement between assays in resectable non-small cell lung cancer
Tác giả: Stephanie P L Saw, Mei-Kim Ang, Nwe Oo Hlaing, Amit Jain, Anne James, Craig Joseph, Ravindran Kanesvaran, Gillianne G Y Lai, Darren W T Lim, Tony K H Lim, Quan Sing Ng, Boon-Hean Ong, Angela Takano, Aaron C Tan, Daniel S W Tan, Sze Huey Tan, Wan Ling Tan, Yi Lin Teh, Joe P S Yeong, Siqin Zhou
Xuất bản: Ireland: Lung cancer (Amsterdam, Netherlands , 2025
Bộ sưu tập: NCBI
ddc:  025.1
 
MRGPRX2 Gain-of-Function Mutation Drives Enhanced Mast Cell Reactivity in Chronic Spontaneous Urticaria
Tác giả: Dan Ye, Songmei Geng, Jiahua Guo, Xinwu Niu, Jianwen Ren, Xiaopeng Wang, Zhao Wang, Mengyao Yang, Jingyi Yuan, Weihui Zeng, Yuxin Zhang, Xi Zhao, Hongmei Zhou
Xuất bản: United States: The Journal of allergy and clinical immunology , 2025
Bộ sưu tập: NCBI
ddc:  599.759
 
Direct measurement of the male germline mutation rate in individuals using sequential sperm samples
Tác giả: Jonathan E Shoag, Amoolya Srinivasa, Una Choi, Anyull D Bohorquez, Christopher E Barbieri, Pamela Callum, Anne-Bine Skytte, Gilad D Evrony, Caitlin A Loh, Mei Hong Liu, Emilie Lassen, Shana Melanaphy, Benjamin M Costa, Marta Grońska-Pęski, Nisrine T Jabara, Shany Picciotto
Xuất bản: England: Nature communications , 2025
Bộ sưu tập: NCBI
ddc:  599.759
 
Inferring active mutational processes in cancer using single cell sequencing and evolutionary constraints
Tác giả: Gryte Satas, Matthew A Myers, Andrew McPherson, Sohrab P Shah
Xuất bản: United States: bioRxiv : the preprint server for biology , 2025
Bộ sưu tập: NCBI
ddc:  978.02
 

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