Mendelian inheritance revisited: dominance and recessiveness in medical genetics

J Zschocke, PH Byers, AOM Wilkie - Nature Reviews Genetics, 2023 - nature.com
Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

p53/NF-kB balance in SARS-CoV-2 infection: From OMICs, genomics and pharmacogenomics insights to tailored therapeutic perspectives (COVIDomics)

D Milani, L Caruso, E Zauli, AM Al Owaifeer… - Frontiers in …, 2022 - frontiersin.org
SARS-CoV-2 infection affects different organs and tissues, including the upper and lower
airways, the lung, the gut, the olfactory system and the eye, which may represent one of the …

Pathogen-sugar interactions revealed by universal saturation transfer analysis

CJ Buchanan, B Gaunt, PJ Harrison, Y Yang, J Liu… - Science, 2022 - science.org
Many pathogens exploit host cell-surface glycans. However, precise analyses of glycan
ligands binding with heavily modified pathogen proteins can be confounded by overlapping …

TLRs: innate immune sentries against SARS-CoV-2 infection

S Mantovani, B Oliviero, S Varchetta, A Renieri… - International Journal of …, 2023 - mdpi.com
Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2), has been responsible for a devastating pandemic since March …

[HTML][HTML] Genome-wide association studies of COVID-19: Connecting the dots

LC Ferreira, CEM Gomes, JF Rodrigues-Neto… - Infection, Genetics and …, 2022 - Elsevier
Genome-wide association studies (GWASs) are a research approach used to identify
genetic variants associated with common diseases, like COVID-19. The lead genetic …

Estimating the number of diseases–the concept of rare, ultra-rare, and hyper-rare

CIE Smith, P Bergman, DW Hagey - Iscience, 2022 - cell.com
At the dawn of the personalized medicine era, the number of rare diseases has been
estimated at 10,000. By considering the influence of environmental factors together with …

Host genetic basis of COVID-19: from methodologies to genes

K Zguro, C Fallerini, F Fava, S Furini… - European Journal of …, 2022 - nature.com
The COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus-2
(SARS-CoV-2) is having a massive impact on public health, societies, and economies …

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

L Bergantini, M Baldassarri, M d'Alessandro… - Respiratory …, 2023 - Springer
Abstract Background Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a
novel coronavirus that caused an ongoing pandemic of a pathology termed Coronavirus …

The genetic and evolutionary determinants of COVID-19 susceptibility

G Kerner, L Quintana-Murci - European Journal of Human Genetics, 2022 - nature.com
Devastating pandemics, such as that due to COVID-19, can provide strong testimony to our
knowledge of the genetic and evolutionary determinants of infectious disease susceptibility …

Associations and disease–disease interactions of COVID-19 with congenital and genetic disorders: a comprehensive review

A Hromić-Jahjefendić, D Barh, CH Ramalho Pinto… - Viruses, 2022 - mdpi.com
Since December 2019, the COVID-19 pandemic, which originated in Wuhan, China, has
resulted in over six million deaths worldwide. Millions of people who survived this SARS …