7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
1 citations
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October 1996 in “Journal of Cutaneous Medicine and Surgery” This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
March 2024 in “Research Square (Research Square)” This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
July 2003 in “Journal of Cutaneous Medicine and Surgery” Various skin conditions can be treated effectively with different methods, such as discontinuing certain drugs, using specific vaccines, applying creams, and changing lifestyle habits like smoking and drinking.
July 2003 in “Journal of Cutaneous Medicine and Surgery” High blood pressure drugs often cause skin lupus, stopping the drug usually helps. A vaccine helps prevent genital herpes and HPV-16. More frequent light therapy clears psoriasis faster. No link was found between low iron and chronic hair loss.
4 citations
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January 1994 This article reviews the consumption patterns and historical use of Allium vegetables like onions and garlic for their potential antimicrobial and cardiovascular benefits, but reports no new clinical findings.
3 citations
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September 2023 in “Frontiers in immunology” This study discusses the epithelial-immune microenvironment in chronic skin diseases, such as psoriasis and atopic dermatitis, and highlights current and future treatment strategies targeting inflammatory loops within these diseases.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
77 citations
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July 2020 in “Cell” This study found that sympathetic nerves and arrector pili muscles form a niche that modulates hair follicle stem cell activity, revealing their role in hair follicle regeneration.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
35 citations
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July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
June 2014 in “Basic & Clinical Pharmacology & Toxicology” This study found that alkaloids isolated from Cucumis metuliferus fruit pulp demonstrated antiviral activity against IBDV in chicken embryo fibroblast cells and NDV in 10-day-old embryonated chicken eggs, while being non-cytotoxic.
This study developed a new analytical method to identify a wide range of endocrine disrupting compounds in full-term amniotic fluid, revealing diverse substances with potential endocrine activity.
9 citations
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July 2022 in “Cell reports” This study found that Sox2 within dermal papilla cells in the hair follicle regulates hair pigmentation, influencing the type and production of melanin.
April 2026 in “Journal of Investigative Dermatology” This study highlights that ZNF750, a zinc-finger transcription factor, is crucial for epidermal differentiation and barrier formation in skin by activating genes involved in lipid processing and stratum corneum development, and links ZNF750 sequence variations to skin inflammatory diseases like psoriasis.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
32 citations
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November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
4 citations
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July 2024 in “Animals” In this study on Chinese Tan sheep, researchers discovered a variant of the KRTAP19-5 gene associated with decreased curvature of fine wool fibres, highlighting potential genetic markers for improving wool quality.
March 2024 in “Agriculture” The researchers reviewed the status, challenges, and future prospects of CRISPR/Cas9-mediated gene-editing technology in livestock breeding, noting its benefits and highlighting concerns about low efficiency in inserting foreign genes and off-target effects.
8 citations
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May 2025 in “Biomolecules” This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.
1 citations
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April 2023 in “International Journal of Molecular Sciences” This review discusses advances in CRISPR/Cas9 variants and nanoformulations for cancer treatment, noting challenges and prospects for clinical application, but reports no new research results.
1 citations
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December 2022 in “Animals” This study found that miR-27a may influence sheep hair follicle stem cell proliferation and apoptosis by targeting PIK3R3, affecting the AKT/MTOR pathway.