May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
January 2005 in “Enlighten: Publications (The University of Glasgow)” In this transgenic mouse study, preliminary findings suggest that overt melanocyte hyperplasia may require prior keratinocyte hyperplasia, indicating a potential role for keratinocyte mutation in early melanoma development.
28 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 10 citations
,
December 2015 in “Experimental dermatology” This study found that in mice, EGFR activation suppresses mitotic regulators like Rcc2 and Stathmin 1, facilitating the transition to catagen in hair follicles.
1 citations
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April 1998 in “PubMed” This study suggested that Nexin 1, a powerful serine-protease inhibitor, may have a role in regulating hair follicle growth by influencing cellular growth and differentiation.
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.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
10 citations
,
May 2012 in “Cell Adhesion & Migration” This study found that ILK/ELMO2 complexes in epidermal keratinocytes are selectively activated by epidermal growth factor to induce cell migration, unlike with other growth factors.
30 citations
,
June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.
3 citations
,
January 2016 In this study, NuMA's microtubule-binding domain was found to be crucial for correct spindle orientation and skin differentiation, with its loss leading to neonatal lethality in mice.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
6 citations
,
March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
January 2021 in “Dermatology online journal” This case report describes a 2-year-old girl with loose anagen syndrome type B, confirmed by painless trichoscopic examination, with no signs in her identical twin sister.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
146 citations
,
May 2002 in “The American journal of pathology” This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.
5 citations
,
January 1979 in “Archives of Dermatological Research” 18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
28 citations
,
April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
January 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” In this study, injecting Nε-(carboxymethyl) lysine into skin tissue weakened hair shaft and follicle formation, likely by inhibiting cell proliferation and migration needed for hair follicle morphogenesis.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
January 2025 in “PLoS ONE” This study identified the transcription factor Elf5 as a novel regulator of keratinocyte proliferation and differentiation in skin, with expression elevated in stem/progenitor cell populations, suggesting its potential role in determining cell fate during skin and hair development.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
57 citations
,
May 2016 in “Matrix Biology” This study found that the absence of laminin α5 in adult mice's epidermal basement membrane led to keratinocyte hyperproliferation and immune cell changes, affecting hair follicle development through altered growth factor expression.
87 citations
,
March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.