Results 41 to 50 of about 587,556 (305)

Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2020
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma.
Luiza Monteavaro Mariath   +3 more
doaj   +1 more source

Ferroptosis: Mechanism and connections with cutaneous diseases

open access: yesFrontiers in Cell and Developmental Biology, 2023
Ferroptosis is a recognized novel form of programmed cell death pathway, featuring abnormalities in iron metabolism, SystemXc−/glutathione axis, and lipid peroxidation regulation.
Lihao Liu   +4 more
doaj   +1 more source

Trace element zinc and skin disorders

open access: yesFrontiers in Medicine, 2023
Zinc is a necessary trace element and an important constituent of proteins and other biological molecules. It has many biological functions, including antioxidant, skin and mucous membrane integrity maintenance, and the promotion of various enzymatic and
Pan Zou   +3 more
doaj   +1 more source

Atopic Dermatitis Host and Environment Model: Revisiting Therapeutic Options [PDF]

open access: yes, 2020
Atopic Dermatitis affects both children and adults and is a serious health concern in many countries. AD is a complex disease with host and environmental factors underlying its pathology. Its treatment is multidimensional reflecting the diverse nature of
Abreu, C   +3 more
core   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski   +9 more
wiley   +1 more source

Tyrosine Kinases in Autoimmune and Inflammatory Skin Diseases

open access: yesFrontiers in Immunology, 2019
Tyrosine kinases relay signals from diverse leukocyte antigen receptors, innate immune receptors, and cytokine receptors, and therefore mediate the recruitment and activation of various leukocyte populations. Non-receptor tyrosine kinases of the Jak, Src,
Kata P. Szilveszter   +2 more
doaj   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel   +3 more
wiley   +1 more source

Phages and human health: More than idle hitchhikers [PDF]

open access: yes, 2019
Bacteriophages, or phages, are viruses that infect bacteria and archaea. Phages have diverse morphologies and can be coded in DNA or RNA and as single or double strands with a large range of genome sizes. With the increasing use of metagenomic sequencing
Baldridge, Megan T   +2 more
core   +2 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +1 more source

A survey on utilization of data mining approaches for dermatological (skin) diseases prediction [PDF]

open access: yes, 2011
Due to recent technology advances, large volumes of medical data is obtained. These data contain valuable information. Therefore data mining techniques can be used to extract useful patterns.
Adibi, N   +4 more
core  

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