Results 211 to 220 of about 1,869,696 (352)
Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869 [PDF]
, 2023 Bushra Memon, Essam M. Abdelalim
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu +11 more
wiley +1 more source
APOBEC3B Signature Mutations Benefit BK Polyomavirus
, 2018 Alberto Peretti +21 more
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Clinical Outcome–Related Mutational Signatures Identified by Integrative Genomic Analysis in Nasopharyngeal Carcinoma [PDF]
, 2020 Wei Dai +8 more
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Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Modeling the relationship between gene expression and mutational signature. [PDF]
Quant Biol, 2023 Jiang L, Yu H, Guo Y.
europepmc +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Supplementary Figure S3: Comparing mutational signatures from Mutational Signatures in Breast Cancer: The Problem at the DNA Level [PDF]
, 2023 Serena Nik‐Zainal, Sandro Morganella
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