January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
1 citations
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October 2012 in “The Journal of Dermatology” This letter to the editor describes a case of acquired progressive kinking of the hair in a Korean female adolescent, but no new research findings are reported.
86 citations
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May 2002 in “Journal of Investigative Dermatology” This study characterized a new human keratin, hK6irs1, specifically found in the inner root sheath of hair follicles, which suggests its role in the structural integrity and guidance of growing hair shafts.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
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.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
9 citations
,
September 2022 in “Frontiers in Physics” This study found that Mueller Matrix microscopy can accurately identify, detect, and evaluate hair follicles in mouse skin tissue, suggesting its potential for skin structure research and dermatological applications.
4 citations
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May 2022 in “BMC Women's Health” This study found that elevated serum AMH levels can be a strong predictor for diagnosing PCOS among women of reproductive age, when used alongside the other Rotterdam criteria.
May 2026 in “Stem Cell Research & Therapy” In this study, researchers identified KRT6A as a potentially important gene in mesenchymal stem cell-derived treatments for alopecia areata, revealing its role as a diagnostic marker, predictor of disease severity, and a protective factor, with overexpression alleviating hair loss in experimental models.
October 2025 in “Journal of the Endocrine Society” This report highlights that Klinefelter syndrome is often underdiagnosed due to phenotypic variability and emphasizes the importance of thorough physical examinations to improve diagnostic timing.
48 citations
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July 1988 in “PubMed” In this study, researchers observed that rhino mice exhibit significant ductal hyperkeratinization in the meibomian gland, which may represent the first naturally occurring disorder of this gland in mice.
12 citations
,
May 2010 in “Journal of Clinical Oncology” This study found that MK-5108 is well tolerated at high doses as monotherapy in cancer patients, showing stable disease and some antitumor activity, particularly in combination with docetaxel.
4 citations
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May 2013 in “Dermatologic Surgery” Three new techniques simplify and improve the preparation of tissue samples for skin cancer surgery.
29 citations
,
January 2017 in “Journal of Investigative Dermatology” This study found that increased MSI2 expression in hair follicle stem cells can delay hair growth by maintaining stem cell quiescence and repressing Hedgehog signaling.
84 citations
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May 2008 in “Biological Chemistry” This review discusses the roles of human tissue kallikreins in skin physiology and pathology and reports no new findings, emphasizing their potential involvement in various skin functions and conditions.
July 2025 in “Journal of Investigative Dermatology” M1 homeopathic complex may help slow melanoma cell growth.
2 citations
,
January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.
1 citations
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November 2025 in “Stem Cell Research & Therapy” This study developed immortalized human hair follicle-derived mesenchymal-like stromal cells (iHF-MSCs) as a consistent source of therapeutic secretome, reporting their superior immunomodulatory and regenerative performance, potentially advancing cell-free therapies for inflammation and tissue repair.
3 citations
,
September 2024 in “International Journal of Molecular Sciences” This review examines how mathematical modeling of the MAPK pathway, enhanced by single-cell proteomic data, improves understanding of regulatory mechanisms, predicts system behavior, and guides experimental research, emphasizing recent developments in modeling and inference.
2 citations
,
April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
February 1985 in “PubMed”
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
9 citations
,
April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
79 citations
,
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.
8 citations
,
September 2011 in “Scanning” This study found that multiphoton microscopy effectively visualizes the microstructure of in vivo mouse skin, offering a clear view of various skin layers and components like corneocytes and collagen fibers.
8 citations
,
April 2012 in “Korean journal of medicinal crop science/Han-gug yagyong jagmul hag-hoeji” This study found that the herbal product containing Rosa multiflora roots extract improved hair density and thickness and significantly promoted hair growth in both mice and human patients after 16 weeks of treatment.
5 citations
,
October 2003 in “PubMed” This case report describes a 30-year-old male with a late diagnosis of Kallmann's syndrome, highlighting the necessity of hormonal therapy to reduce the risk of osteoporosis and bone fractures despite the patient's acceptance of his physical appearance.
2 citations
,
October 2019 in “The Egyptian Journal of Hospital Medicine” This study found that anti-Müllerian hormone (AMH) showed high sensitivity and specificity as a diagnostic marker for polycystic ovary syndrome in the studied population, suggesting its promise as an objective diagnostic tool.