69 citations
,
August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
September 2017 in “Journal of Investigative Dermatology” This study found that their novel 3D-imaging method, ASAXA-μCT, identified shrinkage of sweat glands as a key factor in skin aging, which leads to dermal defects, decreased elasticity, and increased wrinkling and sagging.
16 citations
,
April 1978 in “Genetics Research” This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.
2 citations
,
July 1994 in “Journal of Dermatological Science” This study found that a laboratory model using nude mice can produce human hair follicles with amino acid compositions resembling both normal and trichothiodystrophy-affected human scalp hair over extended periods.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
7 citations
,
January 2009 in “Biological & pharmaceutical bulletin” This study found that applying ferrous ferric chloride skin lotions to newborn mice stimulated skin cell proliferation and differentiation, increased hair growth, and inhibited alopecia-related hair loss.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
May 2026 in “JID Innovations” This study found a significant overlap between gene expression signatures of alopecia areata and certain chronic inflammatory skin disorders, suggesting shared biological processes may drive their co-occurrence and providing a foundation for future research into distinct comorbid subtypes.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
6 citations
,
January 2010 in “Springer eBooks” SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
75 citations
,
April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.
128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
8 citations
,
November 2019 in “Tissue Engineering Part A” In this study, collagen scaffolds functionalized with heparin and growth factors significantly enhanced long-term skin regeneration and growth in a sheep model of fetal skin defect, suggesting potential for prenatal spina bifida treatment.
41 citations
,
October 2001 in “Experimental Dermatology” This review discusses the molecular and functional aspects of the nude gene in skin biology, providing insights into its role and evolutionary development, but reports no new results.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
1 citations
,
July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
21 citations
,
June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
2 citations
,
December 2016 in “Experimental cell research” This study reveals that CSPG4-positive basal cell keratinocytes show distinct global gene expression from CSPG4-negative cells, despite similar colony-forming efficiency.
May 2026 in “Nature Communications” This study observed that the loss of H3K9me3, via the ablation of Suv39h1, Suv39h2, and Setdb1 in embryonic mouse epidermis, disrupts skin development processes such as keratinocyte differentiation and hair follicle formation, highlighting H3K9me3's crucial role in epidermal morphogenesis.
70 citations
,
September 2008 in “PubMed” This article reviews the role of microRNAs in skin-related conditions like psoriasis and wound healing and highlights their potential as therapeutic targets and diagnostic biomarkers, without reporting new experimental results.
August 2019 in “Journal of Investigative Dermatology” This study found that tight junctions extend to the most superficial layer of the stratum granulosum in human skin, challenging previous claims of their limited presence in the epidermis.