November 2025 in “Journal of Investigative Dermatology” TEC kinases may help cause inflammation in vitiligo and could be targeted for treatment.
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.
January 2026 in “Biomolecules” This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.
22 citations
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June 2017 in “Stem cell reports” This study found that PTEN regulates the number and genomic stability of hair follicle stem cells in the skin, with its deficiency leading to increased stem cell accumulation and senescence through interactions with BMAL1 and BMI-1.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.
This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.
12 citations
,
August 2007 in “Human Molecular Genetics” This study found that Lymphotoxin-beta primarily influences periderm differentiation, impacting epidermal and hair follicle differentiation at later stages.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
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.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
9 citations
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October 2017 in “Frontiers in plant science” This study found that the peach gene CTG134 mediates auxin-ethylene crosstalk, affecting root hair growth and hormone-regulated processes in plants.
55 citations
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June 2014 in “Nature Communications” This study found that overexpression of the transcription factor Tcf3 accelerates keratinocyte migration and skin wound healing in mice, highlighting its potential as a therapeutic target for wound repair.
111 citations
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June 2002 in “The EMBO Journal” This study found that overexpression of Smad7 in transgenic mice led to severe alterations in multiple epithelial tissues, resulting in early death after birth.
This study found that protein hydrolysates from mealworms, especially those derived using flavourzyme, significantly enhance adipogenic differentiation in 3T3-L1 preadipocytes, suggesting their potential as sustainable ingredients for glycemic control, skin health, and tissue regeneration products.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
26 citations
,
January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
24 citations
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March 2016 in “Journal of Investigative Dermatology” This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.
This study introduces a new type of tissue micromodule, the micro tissue precursor (μTP), which can form complex 3D tissues, including lung stroma and skin models supporting hair viability.
27 citations
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September 2013 in “The FASEB Journal” This study reports that the loss of the protein Memo in mice leads to a reduced lifespan and suggests that Memo is a key regulator of FGFR signaling and vitamin D production.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
15 citations
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August 2019 in “F1000Research” This review discusses the physiological roles of anthrax toxin receptors CMG2 and TEM8, highlighting their influence on extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity, and reports no new clinical results.
321 citations
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January 2012 in “Cell stem cell” This study identified TGF-β2 as a crucial signal in hair follicle stem cell regeneration, highlighting its role in counteracting BMP signaling to promote tissue regeneration.