11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
9 citations
,
June 2024 in “Cell Reports” This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
January 2014 in “eScholarship (California Digital Library)” In this study, researchers observed that TLR3 and scavenger receptors play key roles in skin barrier repair following UVB damage, contributing to our understanding of cellular responses to skin injury.
July 2024 in “Journal of Investigative Dermatology” Hair follicles are crucial for maintaining skin barrier function.
October 2018 in “Deep Blue (University of Michigan)” This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
13 citations
,
January 2021 in “Histochemistry and Cell Biology” In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.
6 citations
,
March 2023 in “Journal of Ethnopharmacology” In this mouse study, researchers found that the Jieduquyuziyin prescription may lessen lupus-like symptoms and atherosclerosis by inhibiting TLR9/MyD88 signaling and promoting cholesterol efflux.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
25 citations
,
November 2014 in “British Journal of Dermatology” This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
May 2021 in “Histochemistry and Cell Biology” This article highlights studies on cholesterol transporter proteins in hair cycles, epithelial-to-mesenchymal transition in cancer, ovarian hormone effects on cell polarity before implantation, and UV effects on rodent skin, without providing new clinical results.
December 2015 in “Vascular Pharmacology” Different cells affect hair follicle blood vessels, endothelial cells react differently to inflammation and oxidized fats, and prasugrel better protects heart vessels during a procedure than clopidogrel.
December 2015 in “Vascular Pharmacology” Prasugrel is better than clopidogrel at preventing heart damage and improving blood flow in small heart vessels during heart artery procedures.
185 citations
,
June 2011 in “Molecular and cellular endocrinology” This review discusses the regulation and function of vitamin D and its receptor in skin cells, highlighting their roles in processes such as proliferation inhibition, differentiation, and innate immunity, but reports no new results.
158 citations
,
August 2011 in “Reviews in endocrine and metabolic disorders” This review examines the functions of vitamin D and its receptor in skin and explores how these are regulated, reporting no new clinical results.
147 citations
,
November 2020 in “International Journal of Molecular Sciences” This review discusses the immune roles of keratinocytes in wound healing and chronic wound inflammation, emphasizing their potential impact on chronic wound pathology and highlighting areas for future research.
119 citations
,
July 2016 in “Annals of the New York Academy of Sciences” This review examines the impact of vitamin D signaling in extraskeletal tissues and notes that expected benefits from animal and cell studies have not been consistently replicated in human clinical trials.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
66 citations
,
June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
42 citations
,
October 2011 in “Seminars in Cell & Developmental Biology” This review explores the role of Eph receptors and ephrins in skin cell processes, discussing their potential for therapeutic targeting in dermatological disorders, but it presents no new research findings.
25 citations
,
July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.