Results 171 to 180 of about 968,335 (302)

Genome-wide rare copy number variations potentially associated with drug resistance in epilepsy. [PDF]

Sci Rep
Chakraborty A, Kumar K, Tripathi S, Yadav N, Chandra PS, Banerjee J, Dixit A, Tripathi M.   +7 more
europepmc   +1 more source

Digital twins to accelerate target identification and drug development for immune‐mediated disorders

FEBS Open Bio, EarlyView.
Digital twins integrate patient‐derived molecular and clinical data into personalised computational models that simulate disease mechanisms. They enable rapid identification and validation of therapeutic targets, prediction of drug responses, and prioritisation of candidate interventions.
Anna Niarakis, Philippe Moingeon
wiley   +1 more source

Copy number variation doesn't copy SNPs [PDF]

Nature Reviews Genetics, 2007
openaire   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing. [PDF]

BMC Med Genomics
Hu J, Pang J, Hu R, Zhou L, Yu W, Xi H, Luo Y, Yang S, Tang W, Hu A, Chen J, Peng Y.   +11 more
europepmc   +1 more source

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population-Based Cohort. [PDF]

Allergy
Chantran Y, Choi S, Roda C, Barete S, Hirsch P, Hermine O, Polivka L, Rossignol J, Arock M, Rancière F, Momas I.   +10 more
europepmc   +1 more source

Multiallelic copy number variation [PDF]

Nature Reviews Genetics, 2015
openaire   +1 more source

YIPFα1A expression is regulated by multilayered molecular mechanisms

FEBS Open Bio, EarlyView.
YIPFα1A, a five‐pass Golgi protein, is regulated at multiple layers. (1) Rare‐codon enrichment drives translation‐coupled mRNA decay. (2) A proximal 3′‐UTR element stabilizes mRNA. (3) A distal 3′‐UTR element included by alternate poly(A) site usage represses translation, which can be overridden by the proximal 3′‐UTR element.
Tokio Takaji, Yurika Nakanishi, Nobuhiro Nakamura   +2 more
wiley   +1 more source

Toward Graph-Based Decoding of Tumor Evolution: Spatial Inference of Copy Number Variations. [PDF]

Diagnostics (Basel)
Zhang Y, Yang Y, Kong Y, Zhong B, Nakai K, Lu H.   +5 more
europepmc   +1 more source