October 2023 in “Frontiers in endocrinology” This review investigates molecular mechanisms behind PCOS pathogenesis and discusses potential therapies, but reports no new clinical results.
September 2023 in “Frontiers in medicine” This review suggests that the mTOR signaling pathway may play a significant role in hair follicle health by influencing the effects of Vitamin D receptor deficiency, potentially contributing to hair follicle damage and related hair loss conditions.
December 2022 in “KSBB Journal” This study suggests that autophagy is essential for regulating TLR3-mediated regenerative processes in human keratinocytes.
This review discusses the cornification process of epidermal keratinocytes in forming the skin barrier and reports no new results; it emphasizes the importance for diagnosis and treatment of skin disorders.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reported that small molecules such as α-ketoglutarate, α-ketobutyrate, rapamycin, and metformin may stimulate hair regeneration by activating autophagy pathways.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
69 citations
,
December 2015 in “BMC plant biology” This study provides evidence that five Hyp-O-GALT genes are crucial for AGP galactosylation and that AGP glycans are vital for various aspects of plant growth and development.
195 citations
,
February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” This study shows that ZIP7 is a functional zinc transporter in mammalian cells, facilitating the movement of zinc from the Golgi apparatus to the cytoplasm.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
118 citations
,
June 1993 in “Journal of Biological Chemistry” This study found that mouse and human protransglutaminase 3 enzymes require calcium-regulated activation for their role in later stages of cell envelope formation in the epidermis and hair follicle.
2 citations
,
May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
63 citations
,
May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
17 citations
,
April 2023 in “Aging” In this study, the authors used AI-driven methods to identify and prioritize promising therapeutic targets that may address both aging and Glioblastoma Multiforme, proposing CNGA3, GLUD1, and SIRT1 as novel candidates.
2 citations
,
April 2017 in “Molecular Medicine Reports” In this study, blocking autophagy with 3-methyladenine significantly improved the survival of inner ear hair cells in a gentamicin-induced ototoxic mouse model.
July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers investigated the role of the ATX-LPA axis in asthma pathogenesis using human and mouse models and highlighted the potential for developing new ATX inhibitors as effective asthma treatments.
8 citations
,
June 1981 in “Clinica Chimica Acta”
3 citations
,
May 2025 in “Cell Death and Disease” This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.
105 citations
,
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.
3 citations
,
August 2020 in “Cutaneous and Ocular Toxicology” This study demonstrated that adenosine triphosphate may prevent vandetanib-induced skin toxicity in rats, suggesting potential for further research in other animal models and humans.
28 citations
,
May 2020 in “BMC plant biology” This study concluded that GLCAT14A-C genes are crucial for the function of glucuronic acid transfer to AGPs in Arabidopsis, affecting various growth and reproductive traits such as seed germination and root hair growth.
288 citations
,
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.
This study identified that α-ketobutyrate (α-KB) extends lifespan and improves health markers in Caenorhabditis elegans and aged mice by modulating pyruvate metabolism and activating AMPK pathways, with potential implications for human anti-aging treatments.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
91 citations
,
May 1972 in “Journal of Biological Chemistry” This research found that the transfer reaction catalyzed by human plasma and guinea pig hair follicle transglutaminases aligns with a ping-pong mechanism involving peptide-bound glutamine.
August 2025 in “International Journal of Molecular Sciences” This study found that arginine vasotocin is evolutionarily conserved across diverse taxa and may play roles in neuroendocrine, immune, and stress signaling, with potential antimicrobial applications.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.