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.
6 citations
,
January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
2 citations
,
August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair-type tissues in hedgehogs show higher enrichment of immune-related genes compared to spine-type tissues, suggesting that spines evolved to protect against injuries and infections.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
7 citations
,
April 2004 in “International Journal of Dermatology” This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
4 citations
,
May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
20 citations
,
August 2017 in “PLoS ONE” This study identified and updated the annotation of 61 keratin genes in dogs and horses, improving the genome annotation in these species through RNA-seq data comparison.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
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.
87 citations
,
September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
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.
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.
24 citations
,
January 2016 in “Lasers in Medical Science” This study found that non-ablative fractional erbium glass laser treatment affected gene regulation in human skin models by downregulating MMP and interleukin expression, suggesting potential roles in dermal remodeling and anti-inflammatory effects.
19 citations
,
August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
11 citations
,
January 2015 in “Skin pharmacology and physiology” In this study, oral collagen peptides increased certain gene expressions related to epidermis development and the hair cycle in hairless mice skin, suggesting potential links to hair health.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
99 citations
,
January 2014 in “Nature communications” In this study, researchers developed a method to differentiate human iPSCs into cells that can generate all lineages of hair follicles, potentially aiding treatments for hair loss and skin disorders.
9 citations
,
March 2012 in “Experimental dermatology” This meeting report discusses the first symposium on natural gene therapy for skin, preceding the 41st annual meeting of the European Society for Dermatological Research, and reports no new experimental findings.
6 citations
,
May 2020 in “Scientific reports” In this study, microarray and proteomic analyses indicated that genes involved in immune response, receptor binding, and growth factor activity might influence wool fibre diameter in sheep.
December 2024 in “Frontiers in Veterinary Science” This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.
This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.