13 citations
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August 1985 in “The Journal of Dermatology” This study identified a monoclonal antibody, HKN-2, that recognizes specific cells in human skin and may indicate a common antigenic determinant between hair and other skin epithelial tissues.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
35 citations
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October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
June 2018 in “Dermatologic Surgery” This overview describes the Dermatologic Surgery journal's comprehensive focus on dermatologic surgical procedures, but it presents no new research findings.
2 citations
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February 2022 in “Human Gene Therapy” This study found that upregulated miR-149 restricted hair follicle stem cell differentiation and hair growth by inhibiting the MAPK1/ERK2 pathway, which affects FGF2 and c-MYC expression.
2 citations
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October 2025 in “Cells” This review discusses the multifunctional role of PKM2 in promoting cardiac repair and regeneration, highlighting its potential as a therapeutic target in cardiovascular medicine, but reports no new experimental results.
August 2026 in “The FASEB Journal” This study identified two key epigenetic-related genes, HR and SMYD4, which may act as potential biomarkers in keloid disease, suggesting new therapeutic avenues for further research.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
17 citations
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July 2024 in “Frontiers in Oncology” This review discusses recent advances in understanding Merkel cell carcinoma biology, including the development of genetically-engineered mouse models and potential therapeutic targets, but reports no new clinical results.
January 2026 in “Experimental Dermatology” This review discusses the role of keratinocytes in hidradenitis suppurativa, highlighting their genetic and metabolic influences on disease progression without presenting new clinical results.
June 2026 in “Biomedical and Therapeutics Letters” This review discusses AMH and ovarian morphology as complementary markers in diagnosing PCOS/PMOS and reports no new clinical results, highlighting the need for a multidomain approach in diagnosis and treatment.
September 2024 in “Journal of the American Academy of Dermatology” 15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
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.
June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
May 2025 in “Clinical Medicine Insights Case Reports” This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.
September 2023 in “Journal of the American Academy of Dermatology” In this study, researchers found that Hispanic/Latino patients in the USA were diagnosed with melanoma at younger ages and at more advanced stages than non-Hispanic/Latino Whites, which contributed to lower melanoma-specific survival rates among Hispanics/Latinos.
1 citations
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May 2024 in “Pediatric Blood & Cancer” In this case study, a transition to the MEK inhibitor trametinib successfully stabilized disease and reduced toxicity in a patient with refractory kaposiform lymphangiomatosis after prolonged sirolimus and steroid treatment.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
4 citations
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August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
38 citations
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October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
505 citations
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October 2011 in “Journal of clinical oncology” This phase I study found that MK-2206 was well tolerated and demonstrated evidence of AKT signaling blockade in patients with advanced solid tumors, with the maximum-tolerated dose established at 60 mg.
5 citations
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February 2016 in “Hanbang an i bi inhu pibugwa hakoeji/Hanbang an'i'bi'in'hu pibu'gwa haghoeji” This study found that HRHDT combined with microneedle therapy improved hair growth in a mouse model of alopecia more effectively than microneedle therapy alone.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.