September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
13 citations
,
August 2020 in “Frontiers in Cell and Developmental Biology” This study found that Twist1 and Tcf4 synergistically regulate the hair follicle induction ability of dermal papilla cells by forming a complex with β-catenin, enhancing their biological properties.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
12 citations
,
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.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
10 citations
,
August 2013 in “Experimental Dermatology” This study found that Hairless (HR) and putrescine form a negative regulatory network that impacts epidermal homeostasis and hair follicle cycling, linked to the MYC superfamily's regulation of ODC expression.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
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.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
5 citations
,
December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
22 citations
,
April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
181 citations
,
January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.
6 citations
,
March 2020 in “Electronic Journal of Biotechnology” This study found that lncRNA-599554 contributes to the inductive ability of dermal papilla cells in cashmere goats by sponging miR-15a-5p, promoting Wnt3a expression, and potentially influencing hair follicle regeneration.
20 citations
,
January 2017 in “Genetica” This study suggests that the methylation degree of HOXC8 exon 1 in the hair follicle may influence cashmere fiber growth in Liaoning cashmere goats.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
1 citations
,
November 2023 in “iScience” In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.
May 2024 in “JCI insight” In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
10 citations
,
November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
29 citations
,
October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
32 citations
,
April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.