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Tìm được 27 kết quả
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery
Tác giả: Tina Beyer, Gaurav D Diwan, Dagan Jenkins, Marius Ueffing, Karsten Boldt, Tobias Leonhard, Katrin Dahlke, Franziska Klose, Isabel F Stehle, Marian Seda, Sylvia Bolz, Franziska Woerz, Robert B Russell
Xuất bản: United States: Molecular & cellular proteomics : MCP , 2025
Bộ sưu tập: NCBI
ddc:  267.13
 
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis
Tác giả: Lexie van der Graaf, Wesley Leigh, Tomasz Szmatoła, Kelsey Roberts, Stephanie Ryan, Briana Brown, Samantha Van Buren, Carrie J Finno, Jessica L Petersen
Xuất bản: England: Animal genetics , 2025
Bộ sưu tập: NCBI
ddc:  343.097
 
A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling
Tác giả: Jie Liu, Rui Huang, Fenglin Tang, Yuanlin Ma, Patrick Kwan
Xuất bản: United States: Neurobiology of disease , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
Predicting the impact of missense mutations on an unresolved protein's stability, structure, and function: A case study of Alzheimer's disease-associated TREM2 R47H variant
Tác giả: Joshua Pillai, Kijung Sung, Chengbiao Wu
Xuất bản: Netherlands: Computational and structural biotechnology journal , 2025
Bộ sưu tập: NCBI
ddc:  303.385
 
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Tác giả: Aummarin Chaloemthanetphong, Kiattawee Choowongkomon, Napapat Natthasumon, Saknan Bongsebandhu-Phubhakdi, Vichaya Auvichayapat, Kornkiat Vongpaisarnsin, Wikanda Worrapitirungsi, Nattachai Thangsiriskul, Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Hasnee Noh, Ashfaque Ahmed Kanhar, Pagparpat Varrathyarom, Irin Lertparinyaphorn
Xuất bản: Netherlands: Forensic science international. Genetics , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
Identification of polycystin 2 missense mutants targeted for endoplasmic reticulum-associated degradation
Tác giả: Christopher J Guerriero, Marcelo D Carattino, Katherine G Sharp, Luke J Kantz, Nikolay P Gresko, Michael J Caplan, Jeffrey L Brodsky
Xuất bản: United States: American journal of physiology. Cell physiology , 2025
Bộ sưu tập: NCBI
ddc:  230.0071
 
A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling
Tác giả: Jie Liu, Rui Huang, Fenglin Tang, Yuanlin Ma, Patrick Kwan
Xuất bản: United States: Neurobiology of disease , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
Identification of a novel missense variant (c.567G>A, p. Met189Ile) in ABO*B.01 allele
Tác giả: Hua Wang, Fei Wang, Zhicheng Li, Yajun Liang, Yi Xu, Jiangtao Zuo, Qing Li, Ruiqing Guo, Yunxiang Wu, Demei Zhang
Xuất bản: United States: Transfusion , 2025
Bộ sưu tập: NCBI
ddc:  553.3
 
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
Tác giả: Kannan V Manian, Nathan Abell, Matthew L Albert, Jason Comander, Connor H Ludwig, David E Root, Xiaoping Yang, Yan Zhao
Xuất bản: United States: bioRxiv : the preprint server for biology , 2025
Bộ sưu tập: NCBI
ddc:  553.421
 
Corrigendum to "A novel missense mutation Smad4 V354L enhances the efficacy of docetaxel in non-small cell lung cancer" [Biomed. Pharmacother. 184 (2025) 117899]
Tác giả: Xia Xue, Yongjia Zhou, Xiaogang Zhao, Huiping Liu, Yan Gao, Xinyu Ma, Zhaohua Xiao, Wenhao Zhang, Peichao Li, Zhongxian Tian, Yun Luan
Xuất bản: France: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie , 2025
Bộ sưu tập: NCBI
ddc:  641.22
 
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