Results 81 to 90 of about 1,763,257 (296)

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency [PDF]

, 2003
Sophie Lebon, M Chol, P Benit, C Mugnier, D Chretien, I Giurgea, I Kern, E Girardin, L Hertz-Pannier, P de Lonlay, A Rötig, P Rustin, A Munnich   +12 more
openalex   +1 more source

A conserved set of mutations for stabilizing soluble envelope protein dimers from dengue and Zika viruses to advance the development of subunit vaccines

, 2022
Thanh T.N. Phan, Matthew G. Hvasta, Stephan T. Kudlacek, Devina Thiono, Ashutosh Tripathy, Nathan I. Nicely, Aravinda M. de Silva, Brian Kuhlman   +7 more
openalex   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Presence of Reactive Microglia and Neuroinflammatory Mediators in a Case of Frontotemporal Dementia with P301S Mutation [PDF]

, 2011
Arianna Bellucci, Orso Bugiani, Bernardino Ghetti, Maria Grazia Spillantini   +3 more
openalex   +1 more source

Comprehensive transcriptomic profiling and mutational landscape of primary gastric linitis plastica

, 2022
Zhu Liu, Lian‐Lian Hong, Jinsen Zheng, Zhenan Ling, Zhilong Zhang, Yanan Qi, Xinyu Zhang, Tianyu Zhu, Jiuli Wang, Jing Han, Xiangliu Chen, Qi Yu, Shi Wang, Pei Li, Zhi‐Qiang Ling   +14 more
openalex   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Detection of single amino acid mutation in human breast cancer by disordered plasmonic self-similar chain [PDF]

, 2015
Maria Laura Coluccio, Francesco Gentile, Gobind Das, Annalisa Nicastri, Antonio Perri, Patrizio Candeloro, Gerardo Perozziello, Remo Proietti Zaccaria, Juan Sebastian Totero Gongora, Salma Alrasheed, Andrea Fratalocchi, Tania Limongi, Giovanni Cuda, Enzo Di Fabrizio   +13 more
openalex   +1 more source

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

The impact of carbon-ion beam irradiation on the phenotypic and molecular variation of wheat

BMC Plant Biology
Background Heavy ion beam irradiation is a potent mutagenic technique for developing new germplasm resources and breeding novel plant varieties. However, the biological effects and molecular variations caused by different dosages of heavy ion beam ...
Huihui Fan, Qianwen Xue, Hongchun Xiong, Huijun Guo, Yongdun Xie, Linshu Zhao, Jiayu Gu, Shirong Zhao, Yuping Ding, Huiyuan Li, Libin Zhou, Luxiang Liu   +11 more
doaj   +1 more source

Tmc1Point Mutation Affects Ca²⁺Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells [PDF]

, 2016
Laura F. Corns, Stuart L. Johnson, Corné J. Kros, Walter Marcotti   +3 more
openalex   +1 more source