November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that targeting connective tissue sheath contraction with an MLCK inhibitor may improve hair growth in androgenetic alopecia by reducing premature hair regression caused by ectopic apoptosis of hair follicle progenitor cells.
17 citations
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September 2000 in “Journal of dermatology” This case report describes a rare instance where a child with nonketotic hyperglycinemia developed an acrodermatitis enteropathica-like eruption, likely due to combined zinc and branched chain amino acid deficiencies.
27 citations
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June 2001 in “International Journal of Dermatology” This study found that cytokine and EGF stimulation leads to increased MMP-9 production in hair follicles, a process involved in hair follicle involution associated with alopecia.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
101 citations
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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.
January 2001 in “Chinese Journal of Reparative and Reconstructive Surgery” This study found that endogenous EGF may play a role in epidermal development and wound healing, while the absence of bFGF in embryonic rats' skin could contribute to non-scar healing.
3 citations
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March 1966 in “Archives of Dermatology” This study found that nevoid basal cell carcinomas originate in the epidermis and the upper part of the hair follicle, showing similarities to nonnevoid basal cell carcinomas.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
September 2025 in “Development” In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
6 citations
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January 2008 in “Indian Journal of Dermatology” This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.
December 2014 in “Belarusian State Pedagogical University repository (Belarusian State Pedagogical University)” This study suggests that β-Catenin and extracellular matrix components interact in a regulatory loop to influence fibroblast behavior and wound repair properties in dermal tissue.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
60 citations
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August 2009 in “Journal of the American Academy of Dermatology” This study describes five patients with porokeratotic adnexal ostial nevus, a rare skin disorder, highlighting its clinical features and proposing a new encompassing term for related conditions.
July 2012 in “American Journal of Clinical Pathology” This case report describes a 15-month-old girl with a history of dermatitis, eosinophilic esophagitis, and failure to thrive, leading to a suspected diagnosis of Netherton syndrome.
34 citations
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June 1992 in “Journal of Cutaneous Pathology” In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.