Results 211 to 220 of about 902,693 (268)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Roles of DNA Damage Response Pathway in the Regulation of the Nuclear Envelope. [PDF]

Curr Issues Mol Biol
Kamikawa Y, Wu Z, Fujise K, Imaizumi K, Saito A.   +4 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

DNA Damage Across Dietary Patterns: A Comet Assay Study in Vegans and Omnivores. [PDF]

Foods
Peremin I, Gerić M, Jakasa I, Gajski G.
europepmc   +1 more source

DNA Damage Response Proteins Are Involved in the Formation of Defective HIV-1 Proviruses

Michalek K, Bhattacharjee S, Movasati A, Clerc V, Andres J, Hotz A, Rodrigues D, Metzner K.   +7 more
europepmc   +1 more source

Linking Experimental Models to Pathophysiology: Oxidative Stress and DNA Damage in Cardiovascular Diseases. [PDF]

Int J Mol Sci
Gavanji S, Zaki H, Panjwani P, Othman EM.   +3 more
europepmc   +1 more source

DNA Damage and Repair in Thyroid Physiology and Disease.

Endocr Rev
Arczewska KD, Sys D, Nilsen HL, Piekiełko-Witkowska A.   +3 more
europepmc   +1 more source

Defective DNA Damage Response Is a Targetable Therapeutic Vulnerability in ESR1-Mutant Breast Cancer. [PDF]

Cancer Res
Herzog SK, Stevens JH, Gu G, Grimm SL, Cardoza K, Hawkins AGM, Lin H, Ramos D, Beyer AR, Edwards DG, Dustin D, Yang HJ, Liang N, Khan AF, Bawa-Khalfe T, McGrail DJ, Lin SY, Coarfa C, Fuqua SAW.   +18 more
europepmc   +1 more source

Meta-cancer phosphoproteomic analysis unveils association of Tau phosphosites with DNA damage response. [PDF]

Front Syst Biol
Poojari TR, Dcunha L, Mahin A, Gopalakrishnan AP, Ahmed M, Sekhar PS, Ummar S, John L, Modi PK, Soman S, Raju R, Palollathil A.   +11 more
europepmc   +1 more source

IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury. [PDF]

Cell Death Dis
Qiao Z, Zhou D, Zhang T, Lu H, Ren T, Jia M, He Z, Han Y, Lu C, Wu J, Liu M, Sun Y, Wang Z, Lu Y, Tang W, Yi F.   +15 more
europepmc   +1 more source