Results 71 to 80 of about 6,527,208 (145)

Point mutation E1099K in MMSET/NSD2 enhances its methyltranferase activity and leads to altered global chromatin methylation in lymphoid malignancies

Leukemia, 2014
Jon A. Oyer, Xiaoxiao Huang, Yupeng Zheng, J. Shim, T. Ezponda, Zachary Carpenter, Maddalena Allegretta, C. Okot-Kotber, Jay P. Patel, Ari Melnick, Ross L. Levine, Adolfo A. Ferrando, Alexander D MacKerell, Neil L. Kelleher, Jonathan D. Licht, R. Popovic   +15 more
semanticscholar   +1 more source

Tetra-Primer ARMS PCR and Its Applications in Genotyping Point Mutations and Single Nucleotide Polymorphisms

Basic & Clinical Cancer Research, 2012
Single nucleotide polymorphism is the most frequent type of polymorphism in the genome sequence, mostly used as the genetic marker for identification. Moreover,  point mutations are diagnosable and detectable similar to single nucleotide polymorphisms ...
Samaneh Hajihoseiny, Majid Motovali-Bashi, Mahnaz Roaei   +2 more
doaj  

Fluoroquinolone-resistant Salmonella Paratyphi A

Emerging Infectious Diseases, 2005
Takuya Adachi, Hiroko Sagara, Kenji Hirose, Haruo Watanabe   +3 more
doaj   +1 more source

FGFR2 point mutation in 2 cases of pleomorphic adenoma progressing to myoepithelial carcinoma. [PDF]

Contemp Oncol (Pozn), 2023
Pikul J, Rzepakowska A, Machnicki M, Stokłosa T.   +3 more
europepmc   +1 more source

Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation

New England Journal of Medicine, 2017
R. Stone, S. Mandrekar, B. Sanford, K. Laumann, S. Geyer, C. Bloomfield, C. Thiede, T. Prior, K. Döhner, G. Marcucci, F. Lo‐Coco, R. Klisovic, A. Wei, J. Sierra, M. Sanz, J. Brandwein, T. D. de Witte, D. Niederwieser, F. Appelbaum, B. Medeiros, M. Tallman, J. Krauter, R. Schlenk, A. Ganser, H. Serve, G. Ehninger, S. Amadori, R. Larson, H. Döhner   +28 more
semanticscholar   +1 more source

Mis-splicing drives loss of function of p53E224D point mutation. [PDF]

PLoS One
Lock IC, Leisenring NH, Floyd W, Xu ES, Luo L, Ma Y, Mansell EC, Cardona DM, Lee CL, Kirsch DG.   +9 more
europepmc   +1 more source

DeNovoGear: de novo indel and point mutation discovery and phasing

Nature Methods, 2013
Avinash Ramu, M. J. Noordam, R. Schwartz, A. Wuster, M. Hurles, R. Cartwright, D. Conrad   +6 more
semanticscholar   +1 more source

The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism. [PDF]

NPJ Parkinsons Dis
Gan LH, Sun YM, Zhou XY, Qi ZY, Liu FT, Tang YL, Yu WB, Xiao BG, Wang J, Wu JJ.   +9 more
europepmc   +1 more source

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report. [PDF]

BMC Pediatr, 2023
Yang X, Pu S, Xiang B, Tang X, Chen J.
europepmc   +1 more source

A single point mutation on FLT3L-Fc protein increases the risk of immunogenicity. [PDF]

Front Immunol
Qin D, Phung Q, Wu P, Yin Z, Tam S, Tran P, ElSohly AM, Gober J, Hu Z, Zhou Z, Cohen S, He D, Bainbridge TW, Kemball CC, Zarzar J, Sreedhara A, Stephens N, Decalf J, Moussion C, Ye Z, Balazs M, Li Y.   +21 more
europepmc   +1 more source