April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” This editorial reviews the roles and therapeutic potential of inward rectifying K+ channels in various physiological processes, highlighting their importance in health and disease but provides no new experimental results.
130 citations
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April 2003 in “Journal of Investigative Dermatology” This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
June 2025 in “International Journal of Dermatology” In this case series conducted in Austrian dermatology clinics, tralokinumab was found to be a well-tolerated and effective long-term treatment for adults with moderate-to-severe atopic dermatitis, with improvements in eczema severity and symptom suppression maintained over up to three years.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” In this case study, a transition to the MEK inhibitor trametinib successfully stabilized disease and reduced toxicity in a patient with refractory kaposiform lymphangiomatosis after prolonged sirolimus and steroid treatment.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
7 citations
,
May 2025 in “Journal of Biomedical Science” This study found that KRT6A expression increases after epidermal barrier disruption, worsening skin inflammation in disease conditions, and suggests that targeting KRT6A could offer a new treatment approach for inflammatory skin diseases linked to epidermal dysfunction.
34 citations
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August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
This review discusses hormonal systems in the skin, such as the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-thyroid axes, and reports no new clinical results.
5 citations
,
September 2022 in “Molecular pharmacology” This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.
13 citations
,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers reported that Krox20 plays a crucial role in epidermal homeostasis and hair development, influencing stem cell maintenance and cell survival through the modulation of cellular pathways.
April 2025 in “Our Dermatology Online” This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
12 citations
,
January 2001 in “Der Hautarzt” This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.
33 citations
,
October 2012 in “Journal of Morphology” This study identified the distribution of keratin-associated proteins during cornification in the epidermis of reptiles, revealing unique structural characteristics in sauropsid keratin proteins compared to other vertebrates.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
April 2025 in “Annals of Medicine” This study suggests that the key mechanism of stress-related hair loss involves CRH-induced PTEN loss, which reduces autophagy and increases apoptosis in dermal papilla cells, highlighting potential therapeutic targets like PTEN activation or autophagy enhancement.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review examines the development and challenges of using PROTACs, a targeted protein degradation strategy, to treat cancer by degrading specific proteins like PARPs and GPX4, highlighting issues such as target diversification and bioavailability.
70 citations
,
December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In a keratinocyte-specific knockout mouse model, this study found that deleting GRK2 disrupted hair follicle homeostasis, causing cyst-like structures, abnormal growth patterns, and eventual hair loss, suggesting potential links to immune-mediated alopecias.
January 2024 in “Wiadomości Lekarskie” This study found that kinematic alignment in total knee arthroplasty leads to a higher proportion of patients requiring smaller femoral components compared to traditional mechanical alignment, with statistical significance observed in femoral sizing differences between the two groups.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
19 citations
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March 2013 in “Biology Letters” This study found that the main structural proteins of tree frog toe pads, which aid in their adhesive properties, are alpha keratins that have evolutionary origins in early tetrapods.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.