Results 91 to 100 of about 587,556 (305)
Molecular Oncology, EarlyView.We analyze cisplatin–DNA adducts (CDAs) and double‐strand breaks (DSBs) in a cell‐cycle‐dependent manner. We find that CDAs form similarly across all cell cycle phases. DSBs arise only in S‐phase. CDAs might not directly impair DSB repair, but S‐phase DSB lesions evolve in the presence of CDAs and disrupt repair in G2, also causing radiosensitization ...
Ye Qiu +10 more
wiley +1 more source
Topical Gentamicin for the Treatment of Genetic Skin Diseases [PDF]
Journal of Investigative Dermatology, 2018 Clinical application of topical gentamicin is a worthwhile option to investigate further for Nagashima-type palmoplantar keratosis and other genetic skin diseases caused by nonsense mutations. It is especially interesting to study gentamicin 1B because it may be more efficacious than other gentamicin components.
openaire +3 more sources
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
core +2 more sources
FEBS Open Bio, EarlyView.CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point +7 more
wiley +1 more source
Gene therapy and its application in dermatology
Indian Journal of Dermatology, 2020 Gene therapy is an experimental technique to treat genetic diseases. It is based on the introduction of nucleic acid with the help of a vector, into a diseased cell or tissue, to correct the gene expression and thus prevent, halt, or reverse a ...
Tanusree Sarkar +2 more
doaj +1 more source
FEBS Open Bio, EarlyView.A regulatory axis involving APE1, AUF1, and miR‐221 is proposed. Pri‐miR‐221 is processed by DROSHA and DICER to generate mature miR‐221, which targets p27Kip1 mRNA. APE1 and AUF1 compete for pre‐miR‐221 binding. Reduced APE1/AUF1 levels impair miR‐221 biogenesis, decrease p27Kip1 mRNA degradation, and promote cell cycle progression, chemoresistance ...
Matilde Clarissa Malfatti +3 more
wiley +1 more source
A New Way to Classify Genetic Skin Disease [PDF]
Journal of Investigative Dermatology, 2009 Genetic disorders with skin manifestations often affect other organs as well, and diseases with a similar array of features might be linked pathogenetically. Classifying disorders by individual phenotypic components may reveal clusters with a common genetic cause and elucidate pathogenic links.
openaire +2 more sources
Developing Regenerative Treatments for Developmental Defects, Injuries, and Diseases Using Extracellular Matrix Collagen-Targeting Peptides. [PDF]
, 2019 Collagen is the most widespread extracellular matrix (ECM) protein in the body and is important in maintaining the functionality of organs and tissues.
Goldbloom-Helzner, Leora +2 more
core +1 more source
FEBS Open Bio, EarlyView.14‐day casting‐induced immobilization reduced gastrocnemius muscle mass and increased non‐heme iron and ferritin heavy chain levels. Despite iron accumulation, transferrin receptor 1 and iron regulatory protein 2 were paradoxically upregulated. Lipid peroxidation was elevated without compensatory antioxidant responses.
Haruka Yokogawa +2 more
wiley +1 more source
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. [PDF]
, 2017 Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder caused by mutations in the ENPP1 gene. It is characterized by mineralization of the arterial blood vessels, often diagnosed prenatally, and associated with death in ...
Kingman, Joshua +2 more
core +1 more source