Decoding disease: from genomes to networks to phenotypes
AK Wong, RSG Sealfon, CL Theesfeld… - Nature Reviews …, 2021 - nature.com
Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …
disease and designing personalized therapeutic approaches. Modern experimental …
Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms
INTRODUCTION The emergence of three lethal coronaviruses in< 20 years and the urgency
of the COVID-19 pandemic have prompted efforts to develop new therapeutic strategies …
of the COVID-19 pandemic have prompted efforts to develop new therapeutic strategies …
Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates
The novel coronavirus severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is
the cause of COVID-19. The main receptor of SARS-CoV-2, angiotensin I converting enzyme …
the cause of COVID-19. The main receptor of SARS-CoV-2, angiotensin I converting enzyme …
[HTML][HTML] Cross-protein transfer learning substantially improves disease variant prediction
Background Genetic variation in the human genome is a major determinant of individual
disease risk, but the vast majority of missense variants have unknown etiological effects …
disease risk, but the vast majority of missense variants have unknown etiological effects …
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
K Štěrbová, M Vlčková, H Hansíková, V Sebroňová… - neurogenetics, 2021 - Springer
Biallelic variants in the NARS2 gene are the cause of a continuous spectrum of
neurodegenerative disorders presenting with various severity-from spastic paraplegia …
neurodegenerative disorders presenting with various severity-from spastic paraplegia …
[HTML][HTML] Possible A2E mutagenic effects on RPE mitochondrial DNA from innovative RNA-seq bioinformatics pipeline
L Donato, C Scimone, S Alibrandi, A Pitruzzella… - Antioxidants, 2020 - mdpi.com
Mitochondria are subject to continuous oxidative stress stimuli that, over time, can impair
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …
Human BRCA pathogenic variants were originated during recent human history
BRCA1 and BRCA2 (BRCA) play essential roles in maintaining genome stability. BRCA
germline pathogenic variants increase cancer risk. However, the evolutionary origin of …
germline pathogenic variants increase cancer risk. However, the evolutionary origin of …
[HTML][HTML] Evolutionary Origin of Human PALB2 Germline Pathogenic Variants
JS Chian, J Li, SM Wang - International Journal of Molecular Sciences, 2023 - mdpi.com
PALB2 (Partner and localizer of BRCA2) is crucial for repairing DNA double-stranded
breaks (DSBs) through homologous recombination (HR). Germline pathogenic variation in …
breaks (DSBs) through homologous recombination (HR). Germline pathogenic variation in …
Genetic dissection of cis-regulatory control of ZmWUSCHEL1 expression by type B RESPONSE REGULATORS
Z Chen, L Cortes, A Gallavotti - Plant physiology, 2024 - academic.oup.com
Mutations in cis-regulatory regions play an important role in the domestication and
improvement of crops by altering gene expression. However, assessing the in vivo impact of …
improvement of crops by altering gene expression. However, assessing the in vivo impact of …
[HTML][HTML] Identification of protein-protected mRNA fragments and structured excised intron RNAs in human plasma by TGIRT-seq peak calling
Human plasma contains> 40,000 different coding and non-coding RNAs that are potential
biomarkers for human diseases. Here, we used thermostable group II intron reverse …
biomarkers for human diseases. Here, we used thermostable group II intron reverse …