14 citations
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January 2011 in “The International Journal of Developmental Biology” This study showed that coexpression of TG2 and Gbx1 in the epidermis is necessary for esophagus-like mucosal transdifferentiation, with TGF-beta2 in the dermis essential for the process through epithelial-mesenchymal interaction.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study indicates that a helminth-derived protein, TGF-β mimic, may accelerate wound healing and promote regenerative processes in skin tissue by interacting with TGF-β receptors.
May 2022 in “Journal of Immunology” In this study, a TGF-β mimic molecule from Heligmosomoides polygyrus was observed to enhance wound healing in mice, with improved tissue regeneration and specific immune cell recruitment without increased scarring.
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.
May 2025 in “Phytomedicine” Qu-shi-yu-fa Decoction may help treat hair loss by promoting hair growth and strengthening.
In a study using an androgenetic alopecia mouse model, researchers found that Qu-shi-yu-fa Decoction significantly promoted hair regeneration by enhancing follicle transition and activating key pathways, with potential therapeutic targets such as FOXN1 and TGM3 identified.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
44 citations
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March 2019 in “Experimental Dermatology” This study analyzed the cornified envelope of epidermal proteins, finding keratins dominate, which may help explain the minimal impact of deleting genes for single envelope components in congenital ichthyosis.
22 citations
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August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
8 citations
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January 2023 in “International journal of molecular sciences” This study reveals that transglutaminase activity is widespread in integumentary structures of mammals and birds, suggesting it plays a significant role in the cornification of hard skin appendages like nails and feathers.
6 citations
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January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
1 citations
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June 2014 in “Journal of developmental biology” This study found that retinoic acid induces epidermal transdifferentiation into mucosal epithelium in both chick and mammalian embryonic skin, involving specific gene expressions and pathways.
August 2024 in “Life Science Alliance” This study found that topical application of TGF-β mimic promoted enhanced wound healing and tissue regeneration in mice, suggesting its potential as a therapeutic option for improving wound healing.
November 2024 in “Journal of Investigative Dermatology” This study found that scarring alopecia is common in autosomal recessive congenital ichthyosis patients and significantly correlates with the disease's severity, highlighting the need for thorough hair evaluations in clinical management.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
This study found considerable variation in hair shaft proteomic profiles among Caucasian, African-American, Kenyan, and Korean subjects, with individual and site-specific differences observed.
This study used proteomic profiling to reveal significant individual and site-specific differences in human hair shaft proteins, which may improve the differentiation of hair based on ethnic origin and individual identity.
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.
288 citations
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January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
August 2024 in “International Journal of Women’s Dermatology” This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
27 citations
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July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.