Results 71 to 80 of about 3,248,558 (306)
ChildrenBackground: Pediatric mitochondrial cytopathies (MCs) are rare, multisystemic, and heterogeneous disorders that require harmonized collection of clinical, biochemical, and genetic data to better understand their natural history, optimize patient care ...
Sara El Guessabi +8 more
doaj +1 more source
Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort [PDF]
Exploration of Targeted Anti-tumor TherapyAim: Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status.
Renato Mendes Rossi De Lucca +10 more
doaj +1 more source
Hematopoietic (stem) cells—The elixir of life?
FEBS Letters, EarlyView.The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo +4 more
wiley +1 more source
HeliyonDue to their variable phenotypes, mitochondrial disorders (MDs) can be difficult to diagnose. The absolute load lactate stress test (LSTA) and the relative load lactate stress test (LSTR) have been shown to be useful screening tools for the detection of ...
Sara El Guessabi +6 more
doaj +1 more source
Gene Therapy in Oral Cancer: A Review [PDF]
Journal of Clinical and Diagnostic Research, 2013 Gene therapy is the use of DNA as an agent to treat disease. Gene therapy aims at the insertion of a functional gene into the cells of a patient for the correction of an inborn error of metabolism, to alter or repair an acquired genetic abnormality ...
M. Sathish Kumar +3 more
doaj +1 more source
Molecular dynamics as an approach to study prion protein misfolding and the effect of pathogenic mutations [PDF]
, 2011 Computer simulation of protein dynamics offers unique high-resolution information that complements experiment. Using experimentally derived structures of the natively folded prion protein (PrP), physically realistic dynamics and conformational changes ...
Daggett, Valerie, van der Kamp, Marc W
core +2 more sources
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Frontiers in Immunology, 2020 Introduction: Complete or near complete absence of the purine nucleoside phosphorylase (PNP) enzyme causes a profound T cell immunodeficiency and neurological abnormalities that are often lethal in infancy and early childhood.
Eyal Grunebaum +5 more
doaj +1 more source
The mutational meltdown in asexual populations [PDF]
, 1993 Loss of fitness due to the accumulation of deleterious mutations appears to be inevitable in small, obligately asexual populations, as these are incapable of reconstituting highly fit genotypes by recombination or back mutation. The cumulative buildup of
Butcher, D. +3 more
core +1 more source
The Caenorhabditis elegans DPF‐3 and human DPP4 have tripeptidyl peptidase activity
FEBS Letters, EarlyView.The dipeptidyl peptidase IV (DPPIV) family comprises serine proteases classically defined by their ability to remove dipeptides from the N‐termini of substrates, a feature that gave the family its name. Here, we report the discovery of a previously unrecognized tripeptidyl peptidase activity in DPPIV family members from two different species.
Aditya Trivedi, Rajani Kanth Gudipati
wiley +1 more source