research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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60-90 / 1000+ results research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research 1113 Targeting anti-inflammatory immunonanocarriers to human and murine neutrophils via Ly6 antigen for psoriasiform dermatitis alleviation
The study created special nanoparticles that effectively deliver an anti-inflammatory drug to treat skin inflammation in psoriasis.
research 265 Modulation of disease-central cytokine pathways with TAK-279, a highly selective oral tyrosine kinase 2 (TYK2) inhibitor, defines clinical response in patients with psoriasis
TAK-279 effectively reduces psoriasis symptoms and is safe.
research Substance P in keratosis follicularis spinulosa decalvans
Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
research Development and Invitro Evaluation of Solid Lipid Nano Particles Loaded Topical Gel Containing Combination of Drugs Used In The Better Therapy of Psoriasis
The new gel for psoriasis is effective, stable, and easy to apply.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research LB1605 3D imaging of cleared ex vivo normal human skin, skin appendages and psoriasiform skin lesion using light-sheet microscopy
The conclusion is that using light-sheet fluorescence microscopy with a special solution can effectively create detailed 3D images of human skin for dermatological research.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research LB1048 Effectiveness of OR-101 in a murine model of atopic dermatitis
OR101 may effectively treat atopic dermatitis and similar skin conditions.
research Skin Transcriptome Analysis Identifies the Key Genes Underlying Fur Development in Chinese Tan Sheep in the Birth and Er-mao Periods
The FOS gene helps hair growth in Tan sheep.
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research S4890 Infliximab-Induced Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis Syndrome
Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
research 569 Hypoxic response of the expression of TGF-β2 and BMP4 in human dermal papilla cells
Low oxygen levels affect the behavior of certain proteins in human skin cells.
research Modelling of the composition of emulsion medicines and cosmetics stabilized by a biocomplex of surfactant substances based on rhamnolipids Pseudomonas sp. PS-17
A semi-automated system can effectively help choose emulsion ingredients, simplifying the creation of medicinal and cosmetic products.
research Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90
Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
research Fluorescence Microscopy Study of the Sorption of Cationic Polymers on Hair
Polymer JR400 sticks to hair but washes off with detergent.
research New possibilities extemporaneous preparation in dermatology - innovative foam base Espumil
Espumil foam base allows easy preparation of skin medications for hairy areas.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research 646 SOX4 is essential for melanoma tumorigenesis
SOX4 is crucial for the development of melanoma.
research Expression and distribution of EPHA4 and Ephrin A3 in Aohan fine-wool sheep skin
EPHA4 and Ephrin A3 are found in the skin of Aohan fine-wool sheep.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
research 223 Canonical and Dominant Negative Peroxisome Proliferator-Activated Receptor γ Isoforms are Differentially Expressed in Human Skin and Skin Appendages
Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.