15 citations
,
June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
April 2024 in “Anais Brasileiros de Dermatologia”
June 2026 in “Research Square” This report on a case of alopecia areata in a mother and daughter with a 16-year gap suggests genetic predisposition and environmental triggers rather than direct transmission.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
29 citations
,
April 2019 in “Acta neuropathologica communications” This study found that β-sitosterol, a brain-penetrable phytosterol, reduced melanoma cell growth and brain metastasis formation by interfering with mitochondrial respiration, suggesting its potential as an adjuvant therapy to BRAF inhibitors for patients with melanoma brain metastases.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
This review discusses loose anagen hair syndrome in children, characterized by non-scarring alopecia and increased hair shedding, and reports no new results; topical minoxidil may be used as a treatment.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
October 2022 in “Frontiers in Bioengineering and Biotechnology” This study demonstrated that in a mouse model of androgenic alopecia, PLGA-DUT/siAR@DPCM nanoparticles effectively delivered drugs to hair follicles, suppressed androgen-related targets, promoted cell proliferation, and showed significant therapeutic effects with minimal adverse effects, suggesting their potential for clinical application.
47 citations
,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
7 citations
,
October 2024 in “AAPS PharmSciTech” This study developed a caffeine-loaded solid lipid nanoparticle gel, observing significant reduction in subcutaneous fat tissue thickness in histological tests compared to an untreated group, suggesting it could effectively treat cellulite as a promising nanocosmeceutical gel.
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.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
16 citations
,
September 2018 in “Scientific reports” This study demonstrates that keratinocyte cell lines derived from cultured hair follicles can fully differentiate in organotypic skin models, offering a minimally invasive alternative to obtaining keratinocytes for research.
99 citations
,
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.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
February 2026 in “International Journal of Research in Dermatology” In this report, two adult cases of tinea capitis with unusual symptoms like pustules and non-scarring alopecia were diagnosed based on clinical and pathological findings, and successfully treated with oral Griseofulvin and topical luliconazole cream.
November 2025 in “Frontiers in Pharmacology” In this study, researchers found that gentamicin-loaded exosomes derived from a bovine leukocyte spleen extract significantly enhanced antimicrobial activity and tissue regeneration in infected diabetic wounds, showing potential as an effective therapeutic strategy for diabetic foot ulcers by improving infection control and promoting healing.
January 2012 in “heiDOK (Heidelberg University)” In this study, researchers observed that dormant TRP-2+ melanoma cells in bone marrow can interact with CD8+ T cells in tumor-bearing ret transgenic mice, potentially influencing immune responses.
63 citations
,
February 2013 in “Human cell” In this study using an animal model, researchers found that PEGL-DOX, unlike DOX, causes Hand-Foot Syndrome due to reactive oxygen species interacting with skin tissue, leading to skin-specific inflammatory responses.
43 citations
,
June 2012 in “Lasers in Medical Science” In a rat model of chemotherapy-induced alopecia, this study found that low-level laser treatment significantly accelerated hair regrowth without affecting the efficacy of chemotherapy.
8 citations
,
September 2023 in “Advanced Pharmaceutical Bulletin” In a double-blind clinical trial, this study found that a gel containing chitosan-coated spironolactone nanoparticles effectively reduced acne lesions over 8 weeks without adverse skin effects, suggesting potential for enhanced acne treatment through targeted skin delivery.
1 citations
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October 2025 in “Nano Research” In this study, researchers developed a dissolvable microneedle patch combining HA-TEMPO and Portulaca oleracea L.-derived nanoparticles, which effectively reduced oxidative stress and inflammation in an atopic dermatitis model while restoring immune balance, suggesting a promising treatment strategy.
January 2021 in “Revista brasileira de higiene e sanidade animal” In this case report, Trichophyton rubrum was isolated from a dog with dermatophytosis, and treatment with ketoconazole shampoo and oral itraconazole led to complete healing and no recurrence in follow-up.
June 2025 in “Judi Clinical Journal” In this case report, researchers described an exceptionally rare occurrence of a 19-year-old female having three concurrent pilonidal sinuses at intermammary, umbilical, and sacrococcygeal locations, with surgical and conservative treatment leading to favorable healing outcomes.
5 citations
,
November 2008 in “Advances in Dermatology” This review discusses advancements in understanding hair cycle and inflammatory alopecias, proposing a standard classification and tiered treatment recommendations, but reports no clinical results.
9 citations
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September 2022 in “Journal of Clinical Investigation” In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.
August 2024 in “Current Protocols” In this study, researchers described protocols using C3H/HeJ mice to reliably induce alopecia areata through full-thickness skin grafts or adoptive transfer of cultured lymphoid cells, offering valuable models for studying the disease and testing new drug therapies.
65 citations
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September 2004 in “The American journal of pathology” This study found that overexpressing the BMP inhibitor Noggin in transgenic mice led to a significant loss of nontylotrich hair follicles, suggesting a critical role for BMP signaling in hair follicle morphogenesis and cycling.