25 citations
,
October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study characterized the mouse profilaggrin gene, finding it structurally identical to its human counterpart, and noted differences in protein-coding regions that could impact epidermal differentiation.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
203 citations
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November 1984 in “Journal of the American Academy of Dermatology” This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.
43 citations
,
October 2006 in “Journal of Cell Science” In this study, researchers found that contrary to expectations, keratin 10 domains did not reduce cell proliferation and instead increased tumor development in genetically modified mice.
169 citations
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May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
30 citations
,
October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
March 2026 in “JID Innovations” In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
10 citations
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March 2005 in “International Journal of Cosmetic Science” This study found that photochemical and cosmetic chemical oxidation of hair causes surface damage by delipidation and acid formation, which can be characterized and quantified using microfluorometry and X-ray photoelectron spectroscopy.
July 2025 in “International Journal of Dermatology Venereology and Leprosy Sciences” This review assessed the role of scalp hair Survivin protein in individuals with premature graying, exploring its potential involvement in graying-related processes and highlighting its overexpression in autoimmune diseases that may influence the survival of specific immune cell clones.
February 2021 in “PubMed” This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.
11 citations
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June 2017 in “Journal of cell science” In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.
April 2023 in “Journal of Investigative Dermatology” This study suggests that caveolin-1 may be a potential target for treating psoriasis, as its downregulation was linked to psoriasis markers that improved with soluble caveolin scaffolding domain peptide treatment.
33 citations
,
September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
37 citations
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April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
5 citations
,
November 1979 in “PubMed” This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.
April 2018 in “Journal of Investigative Dermatology” This study found distinct gene expression profiles in the parietal and occipital scalp of individuals with androgenetic alopecia, linked to developmental origins and susceptibility to hair loss, offering insights into genetic and epigenetic factors involved in AGA.
April 2017 in “Journal of Investigative Dermatology” This study identified five master regulators that mediate molecular differences in hair follicle development and sexual dimorphism in the skin, providing insights into male pattern baldness and hair follicle donor dominance.
April 2019 in “Journal of the Endocrine Society” This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
30 citations
,
May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
This review found that various treatments like finasteride, minoxidil, and platelet-rich plasma, combined with supplements, showed positive responses in combating androgenetic alopecia. The study specifically highlighted finasteride's effectiveness in increasing hair growth, with different dosages yielding notable improvements in both men and pre-menopausal women.
144 citations
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December 2004 in “Molecular Endocrinology” This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.
99 citations
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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.
54 citations
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January 2007 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that hair follicle homeostasis in mice requires vitamin D receptor expression in keratinocytes, independent of its ligand activation.
3 citations
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March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” This study indicates that MAGE-11 modulates androgen receptor transcriptional activity through F-box interactions, independent of the activation function 2 pathway, revealing a novel mechanism for androgen receptor regulation.
1 citations
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November 2008 in “Acta crystallographica” This study reports the crystallization of the human androgen receptor's ligand-binding domain with nonsteroidal ligands, which may aid in understanding the differences in binding compared to steroidal ligands.