research Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation
mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
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270-300 / 1000+ resultsresearch Regionalisation of the skin
Skin varies in thickness, color, and features due to complex genetic and cellular processes.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Epidermal and Hair Follicle Progenitor Cells Express Melanoma-Associated Chondroitin Sulfate Proteoglycan Core Protein
MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
research Activation of TRPV3 Inhibits Lipogenesis and Stimulates Production of Inflammatory Mediators in Human Sebocytes—A Putative Contributor to Dry Skin Dermatoses
Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Two Clinically Unusual Cases of Folliculotropic Mycosis Fungoides: One with and the Other without Syringotropism
Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Stabilization of epithelial β-catenin compromises mammary cell fate acquisition and branching morphogenesis
Keeping β-catenin levels high in mammary cells disrupts their development and branching.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Role of MEG3-miRNAs in immune-inflammatory regulation in age-dependent wool follicle remodeling in Tan sheep
MEG3-miRNAs help control wool traits in young Tan sheep by regulating immune responses, but their decline with age leads to wool changes.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Understanding the Intricate Pathophysiology of Psoriasis and Related Skin Disorders
Psoriasis involves immune and genetic factors, and understanding these can improve treatments.
research S4890 Infliximab-Induced Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis Syndrome
Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
research Review of Promising Off-Label Use of Deucravacitinib
Deucravacitinib may help treat various immune diseases beyond psoriasis, but more research is needed.
research Basal cell carcinoma — molecular biology and potential new therapies
Blocking Hedgehog signaling offers new treatment options for advanced basal cell carcinoma.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research 151 High effectiveness of tildrakizumab over 52 weeks in patients with or without nail psoriasis: results from the phase IV POSITIVE Austrian subset
Tildrakizumab significantly improved psoriasis symptoms and well-being over 52 weeks.
research Fibroblasts: Origins, definitions, and functions in health and disease
Fibroblasts are crucial for tissue repair and inflammation, and understanding them can help treat fibrotic diseases.
research Cell death by cornification
Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.