99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
25 citations
,
October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study characterized the mouse profilaggrin gene, finding it structurally identical to its human counterpart, and noted differences in protein-coding regions that could impact epidermal differentiation.
180 citations
,
January 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that vitamin D receptor knockout mice exhibit impaired epidermal differentiation and progressive hair loss, suggesting the importance of the vitamin D receptor in normal skin and hair follicle development.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
48 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the genetic and protein interactions involved in hair growth, highlighting regulatory sequences, expression patterns, and potential genetic modifications, but presents no new experimental findings.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
101 citations
,
October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
12 citations
,
August 2022 in “Biochemical Journal” This review discusses the mechanisms of skin-associated cell death and their potential role in treating inflammatory skin diseases, but presents no new clinical findings.
13 citations
,
December 2024 in “Cellular and Molecular Life Sciences” This study reviews recent advancements in understanding caspases, highlighting their roles beyond apoptosis in cancer, inflammation, and neurological disorders, and discusses the potential and challenges of targeting caspases for therapeutic purposes.
555 citations
,
July 2001 in “Genes & Development” This study found that Tcf3 and Lef1 differently regulate cell differentiation in multipotent skin stem cells, with Tcf3 promoting follicle-like features and Lef1, when modified, promoting sebocyte differentiation.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
86 citations
,
August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
January 2001 in “Biomedical Research” This study observed that PAD type III and trichohyalin are expressed earlier than their deiminated form during the first and second hair cycles in rat hair follicles, indicating a potential additional factor is involved in triggering deimination.
1533 citations
,
October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
788 citations
,
February 2007 in “Nature” This review explores how adult skin epithelia preserve stem cell populations for hair follicle regeneration and wound healing, but reports no new experimental results.
226 citations
,
January 2002 in “Biological and Pharmaceutical Bulletin” This study developed a rapid method to extract proteins from human hair, revealing phosphorylation on serine and threonine residues in alpha-keratins and matrix proteins.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
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.
156 citations
,
August 2016 in “Journal of controlled release” This review summarizes current knowledge on tight junctions in mammalian skin and their role in drug delivery and interaction with other barrier components, but reports no new experimental results.
147 citations
,
January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the 1αOHase enzyme, which is responsible for producing a key vitamin D metabolite, showed impaired epidermal differentiation and delayed recovery of skin barrier function after disruption.
128 citations
,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
120 citations
,
February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
98 citations
,
August 2007 in “PLoS ONE” This study found that Myc activation in epidermal stem cells leads to chromatin modifications that promote stem cell exit and differentiation, which can be influenced by HDAC inhibitors like trichostatin A.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
86 citations
,
October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.