61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
55 citations
,
February 2013 in “The Anatomical Record” This study found that the mouse nail unit structurally resembles the human nail unit, indicating it could be useful for researching nail diseases and biology.
44 citations
,
March 2012 in “Molecular Carcinogenesis” This study found that keratin 15 expressing cells from the hair follicle contribute to the development and long-term persistence of cutaneous papillomas in transgenic mice, with a subset showing the Ha-ras mutation.
41 citations
,
October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
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.
36 citations
,
September 2011 in “British Journal of Dermatology” This study found that white hair exhibits increased expression of genes and proteins linked to active hair growth compared to black hair, suggesting that hair greying is associated with enhanced hair growth activity.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
20 citations
,
May 2011 in “Journal of Clinical Investigation” In this study, a transgenic mouse model was used to demonstrate that targeted cell loss in different tissues led to varying degrees of regenerative outcomes, including reversible impaired glucose tolerance, irreversible hair loss, and permanent moderate deafness.
19 citations
,
June 2020 in “Animals” This study found that maternal sub-maintenance nutrition reduced the density and branching ratio of secondary wool follicles in Merino sheep fetuses and identified genes potentially involved in these processes.
19 citations
,
December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
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
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
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.
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.
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.
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.
5 citations
,
May 2021 in “Small ruminant research” This study of Liaoning cashmere goats identified nine keratin proteins as markers of the secondary hair follicle cycle, providing insights that may enhance cashmere quality and production.
4 citations
,
June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
4 citations
,
April 2019 in “JAAD Case Reports” This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
3 citations
,
October 2022 in “PloS one” This study developed a method to culture and maintain chicken feather follicles in vitro, preserving structure and biology similar to their in vivo state, though some gene expression was altered.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
3 citations
,
November 2021 in “Frontiers in Genetics” This study suggests that the CXCL8 gene may regulate cashmere fineness in Liaoning cashmere goats, providing new insights into the cellular mechanisms of cashmere growth and quality.
2 citations
,
August 2023 in “Molecules” This study found that a quinazoline derivative, SH-340, increased skin barrier-associated factors and inhibited TSLP expression and STAT6 phosphorylation in human primary keratinocytes, suggesting potential benefits for alleviating inflammation and improving skin barrier function in atopic dermatitis.
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.
2 citations
,
January 2020 in “Skin Appendage Disorders” This report presents a case where multiple steatocystomas appeared in a psoriatic patient during ustekinumab treatment, suggesting the drug may unmask a genetic predisposition to steatocystoma multiplex.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” The authors concluded that steatocystoma multiplex is a rare dermatological condition with poor treatment outcomes, emphasizing the importance of early recognition and psychological support for affected individuals.
1 citations
,
October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
July 2026 in “Journal of Ovarian Research” In this study, researchers used single-cell RNA sequencing to identify seven cell types, including distinct steroidogenic and immune cells, in the tumor microenvironment of a case of ovarian SCT-NOS, providing insights into its cellular heterogeneity and molecular mechanisms related to hyperandrogenism.