April 2016 in “Plastic and reconstructive surgery. Global open” This abstract catalogs resources from the American Society of Plastic Surgeons but presents no research findings.
21 citations
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June 2024 in “Pharmaceuticals” This review examines the potential of swellable microneedles in drug delivery and diagnostics, highlighting innovations and challenges in their use for chronic disease treatment, but noting that issues like physiological responsiveness and long-term stability still require research.
In this case report, a 7-month-old boy with Netherton syndrome experienced significant improvement in symptoms, including reduced pruritus and increased hair growth, through a combination of intravenous immunoglobulin and dupilumab treatment, which also decreased high serum IgE levels and food-specific IgE antibodies.
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.
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.
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.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
October 2025 in “Advanced Healthcare Materials” This study found that using a stevioside-based microneedle patch significantly increased minoxidil's solubility and skin absorption, promoting hair growth in animal models and achieving 67.5% area coverage by day 35, highlighting the potential of this novel delivery system for androgenetic alopecia treatment.
87 citations
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July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
1 citations
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August 2023 in “Expert opinion on drug delivery” This study found that cedrol-loaded dissolvable microneedles efficiently delivered cedrol to the deep dermis, effectively promoting hair growth in C57BL/6 mice, suggesting a promising strategy for treating hair loss.
January 2022 in “Drugs of Today” 2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
3 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced Neurospectrum, a framework that effectively identifies meaningful neural dynamics by encoding neural activity into latent trajectories, and reported that it outperformed traditional methods in tracking synchronization, reconstructing stimuli, and identifying fMRI biomarkers in various datasets.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
2 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that SYP123 and VAMP727 are involved in the secretion and transport of inner cell wall components, which is crucial for hardening the root hair shank in Arabidopsis.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
This study introduced ElixirSeeker2, a computational framework for designing anti-aging peptides, and found that some newly identified peptides significantly delayed cellular senescence and enhanced cellular and locomotor functions in aged Caenorhabditis elegans.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
April 2017 in “Journal of Investigative Dermatology” In this study, the novel isoprenylcysteine analog SIG-1451 was shown to inhibit pro-inflammatory cytokine release in various cell-based assays relevant to allergic dermatitis, acting on targets such as IL-4 and IL-6 with potential anti-inflammatory benefits.
January 2026 in “Case Reports in Dermatological Medicine” In this case study, a young female with aseptic and alopecic nodules of the scalp achieved full resolution without recurrence using intralesional steroids.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
6 citations
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August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
7 citations
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March 2012 in “European Journal of Pediatrics” This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
52 citations
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September 2022 in “Viruses” This review discusses the functions of SARS-CoV-2 non-structural proteins in facilitating immune evasion and highlights possible therapeutic strategies, reporting no new clinical results.