245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
This study observed that activin A and its antagonist follistatin influence the differentiation of inner ear hair cells by regulating the expression of the transcription factor ATOH1.
11 citations
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February 2022 in “JAAD case reports” This case report observed hair regrowth following the treatment of alopecia universalis and atopic dermatitis with tofacitinib, a JAK inhibitor.
15 citations
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May 2016 in “Archives of Dermatological Research” This study found significantly higher levels of the protein ULBP3 in patients with alopecia areata incognita compared to other hair loss conditions and healthy controls, suggesting ULBP3's potential as a diagnostic marker for AAI.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
November 2025 in “Journal of Investigative Dermatology” Certain immune cells in atopic dermatitis skin could be targeted for treatment.
January 2002 in “Academic Journal of Kunming Medical College” In this study, human-hair artificial tendon material showed good biocompatibility and variable degradation rates in rabbits, depending on treatment time, with minimal inflammatory reactions observed.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
3 citations
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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.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
23 citations
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June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
2 citations
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August 2023 in “Autophagy” In this study, researchers found that keratinocyte-specific deletion of the autophagy mediator Atg16l1 in mice heightened skin inflammation and cancer responses, altered hair follicle stem cell activity, and sensitized keratinocytes to cell death.
2 citations
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January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
April 2024 in “Journal of asthma and allergy” This case report describes a 12-year-old boy with severe atopic dermatitis and comorbid alopecia areata who experienced complete hair regrowth and improved skin condition after 3 months of oral abrocitinib treatment, with no adverse reactions observed during a 1-year follow-up period.
November 2025 in “Mendeley Data” This study observed that JAK inhibitors were safe and effective for patients with moderate-to-severe alopecia areata and comorbid latent hepatitis B or stable tuberculosis, with careful monitoring and selective prophylaxis.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
18 citations
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August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
16 citations
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April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
4 citations
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November 2020 in “Acta Dermato Venereologica” In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.
157 citations
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October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
42 citations
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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 study found that the protein Formin 2 helps regulate cell-to-cell transport in thale cress by stabilizing actin filaments at plasmodesmata, with its absence leading to increased permeability and vulnerability to viral infections.
3 citations
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March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
April 2023 in “World Journal of Advanced Research and Reviews” This case report describes common thyroid disorders in a β-thalassemia patient with frequent blood transfusions, emphasizing the need for monitoring thyroid function in such patients.