Results 201 to 210 of about 58,205 (308)

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

Characteristics of auditory event-related potential and prediction of <i>IDH1</i> mutation in patients with insular glioma. [PDF]

Quant Imaging Med Surg
Zhang C, Wang X, Xue B, Song X, He Q, Liu X, Deng Z, Hou Z, Han R, Xie J.   +9 more
europepmc   +1 more source

IDH1 NP_005887.2:p.R132L [PDF]

, 2020
openaire   +1 more source

Nanotechnology‐Enhanced Approaches for Early Cancer Diagnosis

Nano Select, Volume 7, Issue 1, January 2026.
Conventional MRI and PET provide limited sensitivity and contrast for precise brain lesion detection. In contrast, radiolabeled nanoparticlebased PET imaging enables enhanced signal specificity and sensitivity. By integrating multifunctional nanoprobes, this platform improves multimodal imaging performance, allowing more accurate visualization of ...
Jongmoo Lee, Jiyu Kim, Eunhye Cho, Junyeop Jeong, Jayeon Song, Mikyung Kang   +5 more
wiley   +1 more source

IDH1 and ATRX mutations synergistically modulate cell proliferation and ferroptosis in glioblastoma cells. [PDF]

Am J Cancer Res
Liu S, Xiao X, Li A, Ren C, Meng B, Huang X, Wang X, Zhang L, Xu M.   +8 more
europepmc   +1 more source

Evidence for Clinical Differentiation and Differentiation Syndrome in Patients With Acute Myeloid Leukemia and IDH1 Mutations Treated With the Targeted Mutant IDH1 Inhibitor, AG-120

, 2016
K.C. Birendra, Courtney D. DiNardo
openalex   +1 more source

Figure S1 from CRISPR Editing of Mutant IDH1 R132H Induces a CpG Methylation-Low State in Patient-Derived Glioma Models of G-CIMP

, 2023
Casey J. Moure, Bill H. Diplas, Lee H. Chen, Rui Yang, Christopher J. Pirozzi, Zhaohui Wang, Ivan Spasojević, Matthew S. Waitkus, Yiping He, Hai Yan   +9 more
openalex   +1 more source

IDH1 NP_005887.2:p.R132G [PDF]

, 2020
openaire   +1 more source

Magnetic Resonance Spectroscopy of Cystathionine and 2‐Hydroxyglutarate in Brain Tumors

NMR in Biomedicine, Volume 39, Issue 1, January 2026.
Cystathionine and 2‐hydroxyglutarate were evaluated in 38 glioma patients with TE 97ms PRESS at 3T. Cystathionine level was significantly higher in IDH‐mutant 1p/19q‐codeleted gliomas than in IDH‐mutant non‐codeleted gliomas (p = 0.002). The sensitivity and specificity of the cystathionine measures with respect to 1p/19q status were 0.8 and 0.79, while
Changho Choi, Mai Huynh, Zoltan Kovacs, William J. Behof, Wellington Pham, Sandeep K. Ganji, Zhongxu An, Toral R. Patel, Elizabeth A. Maher, Julia D. Berry, Bret C. Mobley, Larry T. Davis, Colin D. McKnight, Sumit Pruthi, Ryan T. Merrell, Alexander C. Mohler, Patrick D. Kelly, Reid C. Thompson   +17 more
wiley   +1 more source

Integrative machine learning-guided <i>in silico</i> and <i>in vitro</i> approach reveals selective small molecule inhibitors targeting mutant IDH1. [PDF]

RSC Adv
Bajaj M, Kumar R, Pandey V, Parvez S, Tanneru HK, Aparoy P, Karnati R.   +6 more
europepmc   +1 more source