April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
12 citations
,
December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
7 citations
,
October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
86 citations
,
December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
This study found that the lignan compound VB-1 may promote hair follicle growth by enhancing Wnt/β-catenin signaling and increasing dermal papilla cell proliferation in vitro.
24 citations
,
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.
January 2023 in “Annals of Dermatology” This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
1 citations
,
May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
4 citations
,
February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
20 citations
,
July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
October 2024 in “Cermin Dunia Kedokteran” This article discusses the surveillance and spread of hand, foot, and mouth disease in China, Singapore, and Indonesia, and reports no new results, emphasizing the need for improved prevention and management strategies.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
60 citations
,
October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
7 citations
,
March 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This letter discusses the potential of the Janus kinase 1 inhibitor abrocitinib for treating oral lichen planus but provides no new research findings.
1 citations
,
April 2016 in “Journal of lipid research” This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
7 citations
,
August 2019 in “Bioorganic & medicinal chemistry” This study identified novel 4-Amino-2H-benzo[h]chromen-2-one analogs as potent androgen receptor antagonists that show strong antiproliferative activity against prostate cancer cells, suggesting them as potential lead compounds for therapy development.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
67 citations
,
May 2014 in “International Journal of Molecular Sciences” This review outlines the role of dermal fibroblasts in wound healing and highlights their potential in developing new cellular therapies, but reports no new clinical results.
26 citations
,
June 2022 in “Stem Cell Research & Therapy” This study found that Tideglusib enhances wound healing in aged rats by activating the PI3K/Akt pathway, suggesting its potential for medical and cosmetic applications targeting age-related skin changes.
25 citations
,
December 2021 in “Stem Cell Research & Therapy” This review discusses the potential of mesenchymal stem/stromal cells and their exosomes in promoting wound healing and skin regeneration, but reports no new experimental results.
19 citations
,
January 2023 in “Frontiers in Bioengineering and Biotechnology” This review discusses the therapeutic potential of mesenchymal stem cell-derived small extracellular vesicles for chronic wound treatment and reports no new clinical results, emphasizing the need for further research on their large-scale production and engineering.