Marianna E. Weener

ORCID: 0000-0002-1089-4293
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About
Contact & Profiles
Research Areas
  • SARS-CoV-2 and COVID-19 Research
  • CAR-T cell therapy research
  • COVID-19 Clinical Research Studies
  • RNA and protein synthesis mechanisms
  • Retinal Development and Disorders
  • Cancer Immunotherapy and Biomarkers
  • Long-Term Effects of COVID-19
  • Herpesvirus Infections and Treatments
  • COVID-19 diagnosis using AI
  • Viral gastroenteritis research and epidemiology
  • Genetic and Kidney Cyst Diseases
  • SARS-CoV-2 detection and testing
  • Virus-based gene therapy research
  • Genomic variations and chromosomal abnormalities
  • Coenzyme Q10 studies and effects
  • Intraocular Surgery and Lenses
  • Hearing, Cochlea, Tinnitus, Genetics
  • CRISPR and Genetic Engineering
  • Advanced battery technologies research
  • Congenital heart defects research
  • Advanced biosensing and bioanalysis techniques
  • Retinal and Macular Surgery
  • Computational Drug Discovery Methods
  • Mitochondrial Function and Pathology
  • Animal Virus Infections Studies

Massachusetts Eye and Ear Infirmary
2024

University of Wisconsin–Madison
2023

Moscow Clinical Scientific Center
2021-2022

Sirius University of Science and Technology
2021

Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon availability genome sequencing, it is expected that involvement IRDs higher than anticipated. We revisited short-read sequencing data to enhance gene-disruptive SVs.Optical mapping was performed improve SV detection sequencing-negative cases. In addition, reanalysis interpretation and re-establish prioritization criteria.In a monoallelic USH2A...

10.1016/j.gim.2022.11.013 article EN cc-by Genetics in Medicine 2022-12-16

Recently, two cases of complete remission classical Hodgkin lymphoma (cHL) and follicular (FL) after SARS-CoV-2 infection were reported. However, the precise molecular mechanism this rare event is yet to be understood. Here, we hypothesize a potential anti-tumor immune response based on computational approach show that: (i) Spike-RBD may bind extracellular domains CD15, CD27, CD45, CD152 receptors cHL or FL directly inhibit cell proliferation. (ii) Alternately, upon internalization binding...

10.3390/v13101927 article EN cc-by Viruses 2021-09-25

The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis their condition. Following negative IRD gene panel analysis, patients carrying biallelic variants CoQ10 genes were identified. Clinical data collected from the medical records. Haplotypes harbouring same missense variant characterised family (GS) and direct Sanger...

10.1038/s41525-022-00330-z article EN cc-by npj Genomic Medicine 2022-10-20

Degenerative changes in the peripheral regions of ocular fundus allow a closer look at both role collagen genes and their mutations children with high myopia.

10.17116/oftalma202414001119 article EN Russian Annals of Ophthalmology 2024-01-01

ABSTRACT Till date the comprehensive clinical pictures, comorbid conditions, and long-term complications of COVID-19 are not known. Recently using a multi-omics-based strategy, we have predicted drugs for management with ∼70% accuracy. Here, similar bioinformatics approach three-ways analysis, identified symptoms, short, mid possible ∼90% precision. In our analysis (i) 27 parent, 170 child, 403 specific conditions associated COVID-19. (ii) Among 36 viral 53 short-term, 62 short to long-term,...

10.1101/2020.12.08.20245753 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2020-12-09

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes isolated retinitis pigmentosa (RP). To date, 84 7 candidate have been described for non-syndromic RP. Each these encodes protein that plays role vital retina / or retinal pigment epithelium, including cascade phototransduction (transmission visual signal), cycle, ciliary transport, environment photoreceptor cilia interphotoreceptor matrix. The identification study pathways...

10.21516/2072-0076-2021-14-1-80-88 article EN cc-by Russian Ophthalmological Journal 2021-03-20

Abstract Recently, two cases of complete remission classical Hodgkin lymphoma (cHL) and follicular (FL) after SARS-CoV-2 infection were reported. However, the precise molecular mechanism this rare event is yet to be understood. Here, we hypothesize a potential anti-tumor immune response based on computational approach show that (i) Spike-RBD may bind extracellular domains CD15, CD27, CD45, CD152 receptors cHL or FL, (ii) upon internalization, membrane (M) protein Orf3a gamma-tubulin complex...

10.21203/rs.3.rs-811181/v1 preprint EN cc-by Research Square (Research Square) 2021-08-17
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