Results 11 to 20 of about 1,179,077 (360)
Cells, 2022 Current research proves that immune dysregulation is a common feature of coronavirus disease 2019 (COVID-19), and immune exhaustion is associated with increased disease mortality.
Paulina Niedźwiedzka-Rystwej +8 more
doaj +1 more source
Acute myeloid leukemia in SRP54‐mutated congenital neutropenia
eJHaem, 2022 SRP54 mutations have recently been implicated in congenital neutropenia (CN) and the in‐frame deletion, p.Thr117del, is the most common pathogenic mutation reported.
Anthony Sabulski +4 more
doaj +1 more source
Viruses, 2022 The COVID-19 pandemic demonstrated how rapidly various molecular methods can be adapted for a Public Health Emergency. Whether a need arises for whole-genome studies (next-generation sequencing), fast and high-throughput diagnostics (reverse ...
Maria Szargut +6 more
doaj +1 more source
Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]
, 2017 Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio +6 more
core +1 more source
Owren's Disease: A Rare Deficiency [PDF]
Cureus, 2021 Factor V deficiency is a rare bleeding disorder, which may be due to acquired inhibitors or biallelic mutations. Factor V deficiency due to homozygous or compound heterozygous mutation (also known as Owren's disease or parahemophilia) has an estimated prevalence of one in one million people.
Ehtisham, Madiha +4 more
openaire +2 more sources
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source
Acta Medica Bulgarica, 2023 Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system (CNS) caused by the reactivation of John Cunningham polyomavirus (JCV).
Yancheva-Petrova N. +6 more
doaj +1 more source
The roles of endoglin gene in cerebrovascular diseases. [PDF]
, 2017 Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
core +2 more sources
Gender Differences in Bile Acids and Microbiota in Relationship with Gender Dissimilarity in Steatosis Induced by Diet and FXR Inactivation. [PDF]
, 2017 This study aims to uncover how specific bacteria and bile acids (BAs) contribute to steatosis induced by diet and farnesoid X receptor (FXR) deficiency in both genders.
French, Samuel W +8 more
core +1 more source
Journal of the International AIDS Society, 2014 Introduction Rilpivirine (RPV) is a second‐generation non‐nucleoside reverse transcriptase inhibitor (NNRTI) that was recently approved for the treatment of antiretroviral‐naïve individuals with HIV‐1 viral load of
Miłosz Parczewski +4 more
doaj +1 more source