37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
43 citations
,
January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.
95 citations
,
March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
53 citations
,
July 2011 in “Biomaterials” This study observed that hepatocyte adhesion to human hair keratin biomaterials was mediated by the hepatic ASGPR, as blocking this receptor reduced cell attachment.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
22 citations
,
October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.
August 2001 in “The Journal of Cell Biology” In this study, the researchers identified a third keratin 6 gene in mice and developed a double knockout model that could aid in hair growth research.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that AP-2α and AP-2β are critical for maintaining epidermal homeostasis in adult skin, with their combined loss leading to severe skin and hair abnormalities and early skin inflammation due to impaired keratinocyte differentiation.
40 citations
,
December 2010 in “Human Genetics” 19 citations
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July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
96 citations
,
March 2007 in “Developmental biology” This study found that the Wnt inhibitor Dkk4 may play a role in regulating hair follicle development through a feedback loop with canonical Wnt signaling pathways.
412 citations
,
January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
11 citations
,
January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
98 citations
,
December 2015 in “The Journal of Cell Biology” In this study, researchers found that the absence of type I or type II keratins in mice leads to severe skin barrier defects, highlighting keratins' crucial role in epidermal structure and function.
1 citations
,
April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
9 citations
,
September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
11 citations
,
November 2021 in “ACS applied nano materials” This study found that keratin-associated protein nanoparticles extracted from human hair significantly reduced clotting time, suggesting their potential as a hemostatic agent for bleeding control, though further research is needed to understand their precise role in coagulation processes.
130 citations
,
April 2003 in “Journal of Investigative Dermatology” This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
July 2026 in “Pediatric Allergy and Immunology”