research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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780-810 / 1000+ results research TRAPPED IN THE HYPOGLYCEMIA LOOP
Early advanced therapies are crucial for better survival in aggressive insulinoma cases.
research Targeting a fibrotic bottleneck may provide an opening in the treatment of LUTS
New treatments targeting fibrosis could improve urinary symptoms in BPH.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research From hair to liver: emerging application of hair follicle mesenchymal stem cell transplantation reverses liver cirrhosis by blocking the TGF-β/Smad signaling pathway to inhibit pathological HSC activation
Hair follicle stem cell transplants can reverse liver cirrhosis by blocking harmful cell activation.
research Effects of platelet-rich fibrin on repair and healing chronic refractory wounds in rats by regulating Wnt/b-catenin signalling pathway
Platelet-rich fibrin helps heal stubborn wounds in rats by reducing inflammation and boosting tissue repair.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Hepatology highlights
Tenofovir is more effective than adefovir for resistant hepatitis B, Fibroscan is good for assessing liver damage, regulatory T cells may help hepatitis C persist, and other insights into liver health and disease were found.
research Severe Refractory Scarring Alopecia Associated With Combinational Use of Ficlatuzumab (AV-299) and Gefitinib
Combining Ficlatuzumab and Gefitinib can cause severe hair loss.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Alopecia, ascites, and incomplete regeneration after 85 to 90 per cent liver resection
The patient's liver did not fully grow back and she had serious temporary side effects after a very large liver surgery.
research 917 Frontal fibrosing alopecia scalp profiling links Th1/Th2 and JAK3 activation with fibrosis and loss of follicular stem cells
Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
research Bilateral Eyelid Pseudoptosis From Lipogranulomas of the Preaponeurotic Fat Pads
Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
research Fetal Fibroblast Transplantation via Ablative Fractional Laser Irradiation Reduces Scarring
The treatment combining laser and fetal fibroblasts effectively reduces scarring.
research The Postnatal Offspring of Finasteride-Treated Male Rats Shows Hyperglycaemia, Elevated Hepatic Glycogen Storage and Altered GLUT2, IR, and AR Expression in the Liver
Finasteride-treated male rats' offspring had altered glucose metabolism, potentially increasing diabetes risk.
research Mitochondrial dysfunction in diabetic neuropathy may be involved in the development of neuropathic pain via a reduction in neurosteroid synthesis
Mitochondrial problems in diabetic nerve damage might cause pain by lowering the production of certain nerve-related steroids.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Lichen Planopilaris and Frontal Fibrosing Alopecia as Model Epithelial Stem Cell Diseases
Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
research Repurposing DPP4-Inhibition to Improve Hair Follicle Activation and Regeneration
Blocking DPP4 can potentially speed up hair growth and regeneration, especially after injury or in cases of hair loss.
research Fibrosing alopecia in a pattern distribution
Fibrosing alopecia in a pattern distribution is a unique hair loss condition that may respond to antiandrogen therapy.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study
Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
research Protective Effect and Mechanism of Placenta Extract on Liver
Placenta extract may protect and improve liver health by reducing stress, inflammation, and cell death, and promoting regeneration.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.