April 2025 in “Molecular Biology Reports” In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.
1 citations
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August 2009 in “Mechanisms of Development”
December 2024 in “Frontiers in Veterinary Science” This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.
81 citations
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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.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
124 citations
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July 1997 in “Journal of Biological Chemistry” This study found that overexpression of an enzyme in transgenic mice led to distorted polyamine levels, resulting in permanent hair loss and female infertility.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
30 citations
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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.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
40 citations
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June 2019 in “Biochemical and Biophysical Research Communications” This study demonstrated that combining the Wnt/β-catenin activator CHIR99021 with 3D spheroid culture effectively enriched hair follicle formation in reconstituted human skin.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that Dlx3 plays a crucial role in regulating chromatin accessibility and gene transcription during keratinocyte differentiation in the epidermis, highlighting its potential impact on epidermal barrier formation and differentiation.
September 2025 in “Journal of Investigative Dermatology” This research found that deleting the SLC3A2 gene in hair follicle stem cells disrupts their maintenance and proper differentiation, leading to hair follicle growth defects and altered skin regeneration through a YAP/Taz-dependent pathway.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
314 citations
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April 2010 in “Developmental Cell” This study found that in mice, inactivating beta-catenin in the dermal papilla reduces hair follicle progenitor proliferation and disrupts the hair cycle.
19 citations
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December 2016 in “PLOS ONE” This study found that proteins secreted by early-passage dermal papilla cells, including SDF1, MMP3, biglycan, and LTBP1, may play significant roles in hair follicle regeneration.
January 2022 in “Figshare” In this study, researchers found that dermal papilla cell exosomes can enhance hair follicle stem cell proliferation and reduce apoptosis through the Wnt3a/β-catenin signaling pathway, offering insights for potential hair problem treatments.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
19 citations
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January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
59 citations
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September 2007 in “Biochemical and Biophysical Research Communications” This study found that a gain-of-function mutation in the TRPV3 channel leads to altered hair development in DS-Nh mice by affecting the anagen and telogen phases, highlighting TRPV3's role in hair growth regulation.
2 citations
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June 2022 in “International Journal of Molecular Sciences” This study found variable outcomes in hair loss treatment with autologous cell-based therapy using DSC cells, with certain gene markers showing inconsistent correlations with treatment efficacy.
40 citations
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April 1999 in “Journal of Histochemistry & Cytochemistry” In this study, the researchers identified the specific subcellular localization of the protein S100A3 in the endocuticle and cortex of human hair shafts.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
11 citations
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January 2005 in “Brazilian Journal of Medical and Biological Research” This study found no qualitative skin differences during development between mutant hairless USP mice and BALB/c mice, except for enlarged cysts in the hairless strain.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
13 citations
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November 2010 in “Experimental Dermatology” This study found that L-ascorbic acid 2-phosphate could reduce DHT-induced DKK-1 expression in balding scalp cells, suggesting potential for treating androgen-driven hair loss.
34 citations
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July 2009 in “Journal of Cell Science” This study found that ΔNp63α directly regulates VDR expression, which in turn may reduce invasiveness in an epidermoid cancer cell line.