15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
In this study, researchers used the CRISPR/Cas9 system to edit the FGF5 gene in Dorper sheep, observing increased density and finer wool, along with changes in cortisol levels and antioxidant enzyme activity linked to hair follicle development.
12 citations
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January 1994 in “Dermatology” This study found that a patient with giant axonal degeneration had unique hair abnormalities such as trichorrhexis nodosa and altered S:N ratios, unlike her relatives but comparable to unrelated controls.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
3 citations
,
August 2010 in “Letters in Drug Design & Discovery” March 2026 in “Stem Cell Reviews and Reports” December 2025 in “ILDS-DEV”
34 citations
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December 2012 in “Current Opinion in Clinical Nutrition and Metabolic Care” This review discusses the potential of DHEAS and testosterone treatments to increase muscle mass in older men with sarcopenia, while effects on muscle function and physical performance remain unclear, and calls for further research on optimized approaches.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
August 2026 in “British Journal of Dermatology” sCD83 shows promise for treating hair loss by promoting growth and reducing inflammation.
January 2011 in “Junshi yixue” This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.
6 citations
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April 1990 in “The Journal of Dermatologic Surgery and Oncology” Dermatologic surgery has greatly improved with new techniques over the years.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
2 citations
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April 2019 in “Journal of Investigative Dermatology” This study found that overexpression of Gasdermin A3 in mice disrupts the hair follicle stem cell niche and causes hair loss through cell necrosis and abnormal hair cycle progression, without involving immune-mediated mechanisms.
January 2025 in “Clinical Case Reports” This case study details the successful treatment of macrophage activation syndrome with dexamethasone and cyclosporine in a 36-year-old woman with adult-onset Still's disease, highlighting the critical importance of timely aggressive treatment.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
4 citations
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January 2022 in “Current pharmaceutical design” This review discusses the benefits and applications of microsponges delivery systems in drug delivery, particularly for topical treatments, and reports no new clinical findings.
September 2015 in “International Society of Hair Restoration Surgery” This article discusses the role of hair follicle stem cells in potential breakthroughs for hair cloning and follicular cell implantation, but reports no new clinical findings.
February 2022 in “Mediators of Inflammation” This study found that reduced plasma DIAPH1 levels were associated with polycystic ovary syndrome, suggesting DIAPH1 as a potential predictive factor for the condition.
31 citations
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March 2018 in “Frontiers in Immunology” This article reviews the complexities and challenges in classifying systemic lupus erythematosus and the problematic role of the anti-dsDNA antibody as a biomarker, without presenting new experimental findings.
November 2023 in “Journal of Dermatological Science” This study found that ITGA6-positive dermal sheath cup cells, identified by their superior migratory activity, may enhance cell-based therapy for male and female pattern hair loss by promoting cell migration into hair follicles.
38 citations
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May 1971 in “Clinical genetics” This study suggests 5α‐androstan‐3α‐17β‐diol may be the true inducer of kidney enzymes in certain mice, while its induction mechanism likely involves pinocytosis rather than a receptor protein.
April 2020 in “Journal of the Endocrine Society” In this case study, the use of somatostatin analogues was effective in localizing and confirming a neuroendocrine lung tumor as the source of ectopic ACTH syndrome, leading to marked clinical improvement in a patient unable to undergo surgery.
18 citations
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November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
4 citations
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December 2022 in “Advanced science” This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.