April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
August 2016 in “Journal of Investigative Dermatology” This study found that the activity of CD73, an enzyme expressed in the hair follicle epithelium, may regulate human hair growth by modulating adenosine production.
88 citations
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March 2004 in “Journal of Investigative Dermatology”
July 2025 in “Journal of the American Academy of Dermatology” Hair diameter diversity helps assess hair loss, but its standard measure varies by individual and ethnicity.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
7 citations
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June 1989 in “Steroids” In this study, the synthesis of C-4 and C-6 bridged haptens of 11 alpha-hydroxyprogesterone revealed an unexpected formation of a C-4 substituted product using a 6-bromo derivative, contrary to prior reports.
4 citations
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August 2019 in “Journal of Dermatology” This study found that polyamine levels in hair samples differ between androgenic alopecia and alopecia areata, suggesting potential non-invasive biomarkers to distinguish between these hair loss conditions.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
9 citations
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July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
January 2023 in “Social Science Research Network” This case study describes the treatment of a 27-year-old Filipino male with acute patchy hair loss due to alopecia areata, emphasizing the disease's unpredictable progression.
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.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
March 2010 in “European Journal of Cancer Supplements”
August 2026 in “International Journal of Pharmaceutical and Clinical Research” This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces the Hair Cell Analysis Toolbox (HCAT), a machine-learning software that automates the analysis of cochlear hair cells, enabling unbiased and comprehensive imaging data interpretation.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
1 citations
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September 1986 in “Journal of the Forensic Science Society” This study found that hair root sheaths can be accurately typed for erythrocyte acid phosphatase, adenylate kinase, and adenosine deaminase, consistent with blood typing results from the same donors.
1 citations
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January 2014 This review discusses SAHA syndrome in women, characterized by seborrhea, acne, hirsutism, and/or androgenetic alopecia, and notes its similarity to polycystic ovary syndrome without reporting new clinical results.
6 citations
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October 2016 in “Pediatric Dermatology” This case report describes a unique instance of a 6-year-old girl developing angioedema after treatment with squaric acid dibutylester for alopecia areata.
May 2026 in “Animal Bioscience” This study found that m6A-circHECA enhances the differentiation of stem cells into hair follicle lineages in cashmere goats by sequestering miR-449a-5p, boosting LEF1 gene expression, and activating the Wnt/β-catenin pathway.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
January 2015 in “Elsevier eBooks” This chapter reviews the use of liposomes and cyclodextrins to improve the delivery and effectiveness of the peptide angiotensin-(1-7) in various therapeutic applications and reports no new experimental results.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a potent Wnt surrogate with high specificity for the Fzd7 receptor in mice, promoting full hair follicle regeneration and robust hair growth, suggesting potential applications in tissue development and targeted regeneration.
1 citations
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September 2025 in “Journal of Ultrasound in Medicine” This study found that AI using YOLOv11 architecture can reliably differentiate between hyaluronic acid and silicone oil cosmetic fillers on ultrasound, achieving high accuracy, whereas identifying calcium hydroxyapatite and polymethylmethacrylate remains less consistent, requiring further improvements.
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.