51 citations
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November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
7 citations
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April 2012 in “Biomolecular concepts” This article reviews the role of keratins in epithelial function and structure, discussing their involvement in growth control, organelle functions, and pathomechanisms of disorders, but reports no new clinical results.
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.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
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.
7 citations
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May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
April 2026 in “Frontiers in Cell and Developmental Biology” This literature review suggests that hair cell loss in hearing loss is often secondary to preceding morphological and functional defects in hair cells, indicating that interventions should focus on hearing preservation before significant hair cell loss occurs.
January 2009 in “Side effects of drugs annual” This study observed no teratogenic effects of oral decongestants and surprisingly favorable neonatal outcomes in Swedish women who used them during pregnancy.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
4 citations
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February 2021 in “Plant journal” This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.
31 citations
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July 2004 in “Molecular Medicine” This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.
January 2026 in “Annals of Clinical Endocrinology and Metabolism” This narrative review summarizes evidence on NAD⁺ biosynthesis and turnover, highlighting that while NAD⁺ precursors like NR and NMN consistently boost NAD⁺ levels in preclinical and human studies, clinical outcome results remain varied, indicating a need for more standardized human trials.
3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” This case report describes an unusual variant of Turner Syndrome in a 20-year-old female that required comprehensive medical and psychological care, including hormonal therapy that resolved symptoms like alopecia.
August 2024 in “Veterinary Dermatology” This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
18 citations
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October 2021 in “Frontiers in Physiology” This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.
4 citations
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February 2022 in “Experimental Dermatology” This study found that mitochondrial dysfunction and higher oxidative stress in balding dermal papilla cells may contribute to androgenetic alopecia, with antioxidants potentially improving metabolite uptake.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
194 citations
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November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
1 citations
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May 2025 in “The Journal of Dermatology” In this study, increased Treg cell activity indicated by IL-10 and IL-15 was identified as a feature of ADTA, distinguishing it from AA and potentially explaining ADTA's more favorable prognosis.
1 citations
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May 2023 in “Frontiers in Pharmacology” In this study, a case of a young Chinese female with a specific NUDT15 genetic variant experienced severe azathioprine-induced myelosuppression and alopecia while treating systemic lupus erythematosus, highlighting the need for routine blood monitoring during treatment to manage AZA intolerance associated with genetic factors.
6 citations
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October 2022 in “Frontiers in Physiology” This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.
2 citations
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May 2023 in “International Journal of Molecular Sciences” This review discusses current knowledge about the TRPV3 ion channel's role in skin functions and diseases, highlighting its potential as a therapeutic target for pain and itch, though suitable ligands are limited.
1 citations
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April 2019 in “Acta Medica Philippina” This review discusses emerging evidence on azathioprine's efficacy and safety for severe alopecia areata, reporting sustained response in many patients but emphasizing the need for controlled trials.
April 2026 in “Preprints.org” The study found that enhancing quercetin bioavailability with EubioQuercetin may amplify its anti-aging effects in mice by modulating the gut microbiota and improving intestinal barrier function.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
13 citations
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January 2013 in “Indian Journal of Dermatology Venereology and Leprology” Alopecia areata and vitiligo can coexist, respond well to treatment, and may have a better prognosis together.