Disease-specific, neurosphere-derived cells as models for brain disorders [PDF]
, 2010 There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses.
Abrahamsen, G. +29 more
core +1 more source
Galli–Galli Disease: A Comprehensive Literature Review
DermatopathologyGalli–Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas.
Andrea Michelerio +3 more
doaj +1 more source
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases
Acta Dermato-Venereologica, 2022 Nonsense mutations cause the premature termination of protein translation via premature termination codons (PTCs), leading to the synthesis of incomplete functional proteins and causing large numbers of genetic disorders.
Jiangfan Yu +5 more
doaj +1 more source
Emerging Topical and Systemic JAK Inhibitors in Dermatology [PDF]
, 2019 Accumulating data on cellular and molecular pathways help to develop novel therapeutic strategies in skin inflammation and autoimmunity. Examples are psoriasis and atopic dermatitis, two clinically and immunologically well-defined disorders.
Ghoreschi, Kamran +2 more
core +1 more source
Adipokines in the Skin and in Dermatological Diseases
International Journal of Molecular Sciences, 2020 Adipokines are the primary mediators of adipose tissue-induced and regulated systemic inflammatory diseases; however, recent findings revealed that serum levels of various adipokines correlate also with the onset and the severity of dermatological ...
D. Kovács +3 more
semanticscholar +1 more source
Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]
, 2011 Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]
, 2013 Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne +9 more
core +2 more sources
The Skin Microbiome and Its Role in Psoriasis: A Review
Psoriasis, 2023 The skin microbiome is made of various microorganisms, most of which have the function of protecting individuals from harmful pathogens, and they are involved in innate and adaptive immune responses.
Valentina Celoria +6 more
semanticscholar +1 more source
F1000Research, 2017 Background: Cutaneous vasculitis (CV) are a complex group of conditions in children, of which IgA vasculitis (IgAV) is the most common. The objectives of the current study are to describe the incidence of CV in Spain and to analyze the temporal trend in ...
Leyre Riancho-Zarrabeitia +1 more
doaj +1 more source
The role of the skin microbiome in the development of alopecia areata
Journal of Education, Health and Sport, 2022 Human skin is a habitat to a variety of microbes that, along with their host genetic material, make up microbiome of the human skin. The composition of the microbiota in the gut and skin is influenced by many factors, such as life stage, nutrition ...
Kinga Brzuszkiewicz +6 more
doaj +1 more source