2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
18 citations
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January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
63 citations
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May 2009 in “Dermato-endocrinology” Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
March 2026 in “Preprints.org” The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.
36 citations
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
10 citations
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January 2003 in “Journal der Deutschen Dermatologischen Gesellschaft” Hydroxychloroquine helped improve scleromyxoedema in patients, but caused side effects in some.
June 2006 in “British Journal of Dermatology” Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
667 citations
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May 2008 in “Genes & Development” Histone demethylases can change gene expression and may be linked to diseases like cancer.
314 citations
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April 2010 in “Developmental Cell” β-catenin in the dermal papilla is crucial for normal hair growth and repair.
82 citations
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February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
80 citations
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April 2011 in “Plant physiology” White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
29 citations
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March 2023 in “European Journal of Human Genetics” New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
3 citations
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September 2024 in “Frontiers in Bioscience-Scholar” Pantaneiro sheep have more genetic diversity than Texel sheep, with potential for future research in Brazilian farming.
3 citations
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July 2025 in “BIOMED natural and applied science” Drug repurposing can create safer, cheaper treatments by finding new uses for existing drugs.
March 2015 in “Plastic and reconstructive surgery” Human skin has multiple layers and functions, with key roles in protection, temperature control, and appearance.
January 2021 in “Online Publication Service of Würzburg University (Würzburg University)” Diphenylcyclopropenon treatment for Alopecia areata is effective and safe, improving patients' quality of life.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
211 citations
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March 2011 in “Journal of Lipid Research” A new, quick method was developed to analyze skin lipids, discovering a new ceramide subclass.
21 citations
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November 2019 in “Molecular & Cellular Proteomics” Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
6 citations
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March 2022 in “Frontiers in drug discovery” Some small molecule antivirals show promise against COVID-19, but more research is needed to understand and improve them.