September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
3 citations
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June 2021 in “Frontiers in genetics” This study found that STAT3 directly inhibited the activity of the sheep FST gene promoter, consequently reducing cell proliferation and promoting a better understanding of hair follicle development mechanisms.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
December 1987 in “Pediatric Dermatology” This article describes a previously unreported hair anomaly associated with facio-genito-popliteal syndrome and does not present new clinical results.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” This review discusses the diverse roles of Frizzled proteins in developmental and homeostatic processes and reports no new experimental findings.
February 2020 in “Biophysical journal” This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
179 citations
,
June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
4 citations
,
August 1999 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.
August 2016 in “Journal of Investigative Dermatology” In this ex vivo study, inhibiting Ezh2 with a small molecule slowed human hair growth by decreasing proliferation and increasing apoptosis in the outer root sheath.
37 citations
,
January 2010 in “Human Molecular Genetics” In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.
5 citations
,
September 2012 in “Journal of Investigative Dermatology” This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.
19 citations
,
May 2016 in “Clinical, cosmetic and investigational dermatology” In this study, applying FGF-2-containing dalteparin/protamine nanoparticles to the scalp was associated with a significant increase in hair diameter over six months among participants with thin hair.
37 citations
,
January 2009 in “Sexual Development” This study found that chronic exposure to fadrozole or finasteride during frog development induced intersex individuals, which displayed different gene expression profiles depending on the chemical used.
5 citations
,
February 2016 in “Sultan Qaboos University medical journal” This case report describes a patient with a severe pruritic rash and hair loss in both axillary regions, with no fluorescence under a Wood's lamp and hair follicle-centred papules observed through dermoscopy.
225 citations
,
April 2018 in “Journal of Investigative Dermatology” Two main types of fibroblasts with unique functions and additional subtypes were identified in human skin.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
July 2022 in “Journal of Investigative Dermatology” This study found that the cosmetic olfactory receptor agonist cyclohexyl salicylate may stimulate hair growth and expand stem cell progeny, suggesting potential as a cosmetic adjuvant for hair loss.
August 2016 in “Journal of Investigative Dermatology” This study found that stimulating olfactory receptor OR2AT4 in human hair follicles with Sandalore® may slow catagen development and reduce keratinocyte apoptosis, suggesting potential implications for hair growth management.
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.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
November 2025 in “Biomolecules” This study found that overexpressing FGF22 in dermal papilla cells enhanced hair follicle stem cell proliferation and viability, while its knockout reduced these attributes, indicating its role in hair follicle regeneration.
53 citations
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May 1988 in “Journal of Molecular Evolution” 41 citations
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January 1992 in “Journal of medical genetics” This study described seven male patients and six female carriers of keratosis follicularis spinulosa decalvans, highlighting distinct dermatological and ophthalmic markers including follicular hyperkeratosis and corneal dystrophy.
2 citations
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April 2022 in “Genes” This study identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.