25 citations
,
June 2019 in “Endocrine Related Cancer” This review discusses the structure and function of steroid nuclear receptors, particularly focusing on androgen receptor dysregulation in prostate cancer and androgen insensitivity syndromes, without reporting new experimental results.
40 citations
,
January 2016 in “Elsevier eBooks” This article explains the structure and multifunctional roles of the human skin, including its protective, regulatory, and sensory functions, but does not report new research findings.
194 citations
,
November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
81 citations
,
January 2006 in “Journal of cellular physiology” This study found that the absence of the vitamin D receptor disrupts hair follicle structure during the first catagen in mice, linked to increased expression of the hairless gene.
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.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
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.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
October 2024 in “Archives of Dermatological Research”
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
April 2026 in “Frontiers in Cell and Developmental Biology” This literature review suggests that hair cell loss in hearing loss is often secondary to preceding morphological and functional defects in hair cells, indicating that interventions should focus on hearing preservation before significant hair cell loss occurs.
2 citations
,
December 2004 in “Medicine” This review discusses various causes of hair loss, emphasizing the importance of a structured diagnostic approach, and reports no new clinical findings.
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.
April 2018 in “Journal of Investigative Dermatology” This study found that the loss of transcription factor Ovol2 in epidermal and hair follicle stem cells leads to migration defects, which are partially improved by deleting the EMT-inducing Zeb1.
2 citations
,
September 2022 in “Cytotherapy” This review summarizes recent research on the therapeutic uses of adipose-derived stem cells for wound healing and treating skin diseases but does not provide new experimental results.
December 2025 in “Cureus” In this report, successful management of inherited acrodermatitis enteropathica, a zinc absorption disorder due to an SLC39A4 gene defect, was demonstrated in an infant through zinc supplementation.
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.
15 citations
,
February 2017 in “International Journal of Women's Dermatology” This source summarizes discussions by an advisory board of twelve experts on hair loss, focusing on heredity, aging, and environmental impacts, and emphasizing strategies that may slow alopecia.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
January 2024 in “Women's health science journal” This source provides a comprehensive overview of amenorrhea, detailing its classification, potential causes such as hormonal imbalances and structural abnormalities, and the various management strategies including hormone therapy and lifestyle modifications tailored to its underlying causes.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
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.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.