research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
Search
for
Sort by
Research
180-210 / 1000+ results 
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Different effects of phospholipase Dζ2 and non‐specific phospholipase C4 on lipid remodeling and root hair growth in Arabidopsis response to phosphate deficiency
PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
research Topical Administration of Drugs Incorporated in Carriers Containing Phospholipid Soft Vesicles for the Treatment of Skin Medical Conditions
Phospholipid soft vesicles improve topical drug delivery for better skin condition treatments.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Real-time iTRAQ-based proteome profiling revealed the central metabolism involved in nitrogen starvation induced lipid accumulation in microalgae
Nitrogen starvation in microalgae increases lipid production, making it a potential biofuel source.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Rheological Properties and Composition Affecting the Skin Permeation of a Model of a Hydrophilic Drug in Lecithin Reverse Wormlike Micelles
IPM enhances skin penetration of hydrophilic drugs.
research Human stratified squamous epithelia differ in cellular fatty acid composition
Fatty acid composition in human skin, mouth, and hair cells varies with keratinization, and cultured cells show essential fatty acid deficiency.
research Skin Adipocyte Stem Cell Self-Renewal Is Regulated by a PDGFA/AKT-Signaling Axis
PDGFA/AKT signaling is important for the growth and maintenance of certain skin fat cells.
research Untargeted metabolomics analysis of plasma metabolic characteristics in patients with acne and insulin resistance
Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.
research 090 Reactive lipids from the secretome of senescent fibroblasts modify the extracellular matrix with functional consequences for resident cells
Reactive lipids from aging cells change the extracellular matrix, affecting cell function and inflammation.
research Serum Metabolomics Study of Polycystic Ovary Syndrome Based on Liquid Chromatography–Mass Spectrometry
Women with PCOS have different levels of certain fats and proteins in their blood, which could help diagnose the condition.
research 752 Diet and the dermal white adipose tissue: Analyzing shifts in the cutaneous lipid landscape in response to dietary change
Different diets change the fat composition in mouse skin, often reducing beneficial omega-3 fatty acids.
research Lipid Modulation and Systemic Inflammation
Dietary lipids affect inflammation and are crucial for normal cell function and immune health.
research The TRPM5 Antagonist Triphenylphosphine Oxide Increases Sebaceous Lipogenesis and Modulates Immune Phenotype of Human Sebocytes in a TRPM5‐Independent Manner
Triphenylphosphine oxide can increase oil production and reduce inflammation in skin cells without affecting TRPM5.
research Drug related lipid metabolism abnormalities: a real-world pharmacovigilance exploratory analysis based on U.S. FDA adverse event reporting system (FAERS)
Many drugs can cause lipid metabolism issues, and labels need better warnings.
research Transcriptome Analysis Reveals Skin Lipid Metabolism Related to Wool Diameter in Sheep
Lipid metabolism affects wool thickness in sheep.
research Lysophosphatidic acid increases the proliferation and migration of adipose-derived stem cells via the generation of reactive oxygen species
Lysophosphatidic acid boosts stem cell growth and movement by creating reactive oxygen species.
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
research Omega-6 highly unsaturated fatty acids in Leydig cells facilitate male sex hormone production
Omega-6 fats in certain cells boost male hormone production.
research Adipose Inositol Monophosphate Metabolism Is Associated with Fasting Regimen-Elicited Metabolic Benefits
Intermittent fasting improves metabolism and reduces obesity by affecting specific molecules in fat tissue.
research Functionally enhanced placenta-derived mesenchymal stem cells inhibit adipogenesis in orbital fibroblasts with Graves’ ophthalmopathy
Enhanced stem cells from the placenta can reduce fat cell formation in eye disease.
research 130 Deciphering the role of the hexosamine pathway in skin homeostasis
The hexosamine pathway helps maintain healthy skin by affecting the skin's structure and possibly increasing hair follicle stem cells.
research The role of lipids in promoting hair growth through HIF-1 signaling pathway
Lipids may help treat hair loss by promoting hair growth through the HIF-1 pathway.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research White Lupin Cluster Root Acclimation to Phosphorus Deficiency and Root Hair Development Involve Unique Glycerophosphodiester Phosphodiesterases
White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research A Review of Metabolic Dysregulation in Lymphocytic Cicatricial Alopecia: Exploring the Connections and Therapeutic Implications
Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.