14 citations
,
August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
2 citations
,
January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
7 citations
,
April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
3 citations
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August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
5 citations
,
October 2021 in “Journal of the American Academy of Dermatology” PRAME helps distinguish between benign and malignant skin cells in most cases.
September 2025 in “Frontiers in Medicine” This study found that angiopoietin-1 significantly reduces apoptosis and promotes proliferation in human follicle dermal papilla cells under DHT-induced stress, suggesting its potential as a therapeutic candidate for androgenetic alopecia.
24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
1 citations
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April 2024 in “Metabolites” In this study, researchers found that male and female APCHi mice exposed to ionizing radiation showed near-normal lipid and metabolite levels, suggesting activated protein C may offer some protective effects against radiation-induced damage affecting organ systems.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.
In this case-control study, researchers found that serum apelin-12 levels were significantly higher in acne patients and correlated with acne severity, BMI, insulin resistance, and inflammation, suggesting that managing insulin resistance could be important for acne treatment.
5 citations
,
January 2016 in “Stem Cells International” This study found that epidermal stem cells in nonglabrous skin are connected to the distal end of the arrector pili muscle, which may play a role in epidermal renewal and wound healing.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
September 2025 in “American Journal of Dermatopathology” In this research, most cases of mammary and extramammary Paget disease were reported to express PRAME, expanding the understanding of its presence in cutaneous epithelial tumors, though its diagnostic utility is limited by overlap with other conditions.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
April 2012 in “Journal of evolution of medical and dental sciences” This report describes a rare case of papular atrichia in a 4-year-old girl, highlighting the absence of effective treatment to stimulate hair growth for this condition.
24 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
January 2024 in “Journal of dermatology and skin science” In this study, researchers found that applying topical aprepitant, which blocks substance P receptors, significantly reduced facial dermatitis and hair loss in rats experiencing erlotinib-induced skin side effects, highlighting the neurogenic inflammation's role and the protective effect of ROS inhibition.
5 citations
,
January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
52 citations
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April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.