39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
6 citations
,
January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
2 citations
,
February 2024 in “Nature cell biology” In this research, the authors identify coordinated mechanical forces as crucial for hair follicle development in mammals, with contractile, proliferative, and proteolytic activities facilitating the formation and sectioning of epithelial structures crucial for forming a functional tissue.
1 citations
,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study explores ear pinna development in mice and reports that elastic cartilage formation is disrupted in a short ear mutant, correlating with increased adult adipocytes and impaired chondrogenesis.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
49 citations
,
August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
23 citations
,
June 2012 in “PLOS ONE” This study found that KLF4 expression in mouse hair follicle stem cells is important for effective cutaneous wound healing, with its knockdown leading to reduced stem cell populations and delayed healing.
6 citations
,
January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
52 citations
,
May 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that overexpression of parathyroid hormone-related protein in mice resulted in 30–40% shorter hair due to premature transition into the catagen phase of the hair cycle.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
25 citations
,
November 2014 in “British Journal of Dermatology” This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.
20 citations
,
June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
14 citations
,
April 2021 in “Biology” This study found that ethanol extract of Tubtim Chumphae rice bran downregulates SRD5A gene expression, similarly to finasteride, suggesting potential use as an anti-hair loss product.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
5 citations
,
May 2019 in “Archives of Dermatological Research” This study reported that narrowband UVB treatment significantly increased WNT7B, WNT10B, and TCF7L2 gene expression in lesional skin of psoriasis patients, suggesting these genes may play a role in psoriasis pathogenesis.
2 citations
,
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that stem cells can temporarily act as non-professional phagocytes during hair cycle regeneration by clearing apoptotic cells through a process requiring local lipids and retinoids for activation, providing insights into their dual role in maintaining tissue integrity.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
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.
20 citations
,
October 2021 in “PLoS ONE” This study found significant differences in gene expression between newborn and adult skin, with infant skin notably increasing processes related to ECM organization, cell adhesion, and collagen fibril organization.
14 citations
,
January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AtCEPs in Arabidopsis thaliana play a role in controlling root hair growth by processing EXT proteins, with NAC1 acting to regulate their expression and influence elongation.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
62 citations
,
August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
28 citations
,
July 2008 in “Developmental Biology” This study found that the loss of Smad4 in keratinocytes reduces Dsg4 expression via disrupted BMP signaling, contributing to hair follicle degeneration and alopecia.
16 citations
,
January 2012 in “European Journal of Endocrinology” This study reports an increased frequency of the DI genotype of the ACE gene polymorphism among women with PCOS, notably in those with hyperandrogenism, and an association of the II genotype with insulin resistance.
6 citations
,
January 2017 in “Advances in Experimental Medicine and Biology” This review discusses the complex role of Runx family genes in regulating stem cells in blood and skin tissues and reports no new experimental results.
10 citations
,
September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.