9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
3 citations
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May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
1 citations
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August 2024 in “British Journal of Dermatology” This study found that after 15 months of treatment with ritlecitinib, patients with alopecia areata and less than 95% initial hair loss experienced significant hair regrowth, though those with more extensive hair loss showed more variable improvement.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.
January 2019 in “Przegląd Dermatologiczny” This report presents a case of a 57-year-old woman with APS-4, generalized alopecia, and rheumatoid arthritis, emphasizing the need to screen for other autoimmune disorders in patients with a single organ-specific autoimmune disease.
March 2025 in “Journal of Investigative Dermatology”
6 citations
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November 2023 in “Clinical Pharmacokinetics” This research discusses the parallel clinical development of ritlecitinib, an oral Janus kinase 3/tyrosine kinase inhibitor, for treating conditions such as alopecia areata, vitiligo, ulcerative colitis, Crohn's disease, and rheumatoid arthritis. Results are not reported in the abstract.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
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.
14 citations
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November 2016 in “Lupus” In this retrospective study of adolescents with recalcitrant cutaneous lupus, lenalidomide treatment resulted in complete or near resolution of skin symptoms within 6 months, while allowing for a reduction in prednisone dosage.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
November 2025 in “American Journal of Case Reports” This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” This report presents a case of hereditary elliptocytosis in a 37-year-old woman with iron deficiency anemia, identifying a high percentage of elliptocytes in her blood after treatment.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
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.
November 2024 in “Journal of Investigative Dermatology” February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
June 2026 in “Dermatology and Therapy” This study reported that ritlecitinib was prescribed to a diverse group of patients with severe alopecia areata in the first 10 months after FDA approval, indicating its potential role in AA management.
January 2026 in “Buletin Veteriner Udayana” In this study, a female dog with ectoparasite infestation was treated for two weeks using wormectin, diphenhydramine, chlorpheniramine maleate, dexamethasone, and amoxicillin, resulting in improved symptoms such as reduced itching, closure of skin ulcers, and hair regrowth.
27 citations
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July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” A 12-year-old with ichthyosis linearis circumflexa showed significant improvement after 30 sessions of narrowband UVB phototherapy, as reported in this case study.
March 2026 in “SKIN The Journal of Cutaneous Medicine” This study found that ritlecitinib was well tolerated in children aged 6 to under 12 years with severe alopecia areata, with ongoing trials examining its efficacy and safety over a 24-week period and in long-term use up to 36 months.
47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.