Woolly hair nevus: case report and review of literature [PDF]
, 2020 Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings.
Gomes, Tiago Fernandes +2 more
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A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
, 2019 Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano +12 more
core +1 more source
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari +2 more
wiley +1 more source
The human SOX18 gene: Expression analysis and characterization of its 5’ flanking region [PDF]
, 2007 The aim of this study was to establish an adequate in vitro model system for studying transcriptional regulation of the human SOX18 gene. The paper presents an analysis of expression of this gene in cultured cell lines and characterization of its 5 ...
Petrović Isidora, Stevanović Milena
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Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature
Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf +3 more
wiley +1 more source
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
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Four hypotrichosis families with mutations in the gene
, 2021 Nicole Cesarato +10 more
openalex +1 more source
Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs
Veterinary Dermatology, Volume 36, Issue 1, Page 64-73, February 2025.Background – Alopecia associated with hair cycle arrest (HCA, Alopecia X) is well‐recognised in Pomeranian dogs. The authors are unaware of reports of hair fragility in affected dogs. Hypothesis/Objectives – Following the observation of frequent hair shaft abnormalities in alopecic Pomeranians, we hypothesised that hair fragility events would be more ...
Erin Brennan +6 more
wiley +1 more source
Skin changes in chronic lymphatic filariasis [PDF]
, 2017 Seventeen men and 31 women with unilateral lower limb lymphoedema attributed to chronic lymphatic filariasis were examined in the filarial out-patient clinic of the Government General Hospital, Madras, India.
Burri, Haran +3 more
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Activation of Transient Receptor Potential Vanilloid 3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes [PDF]
, 2018 K
Angyal, Ágnes +13 more
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