research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
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30 / 37 resultsresearch Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research The Case: Bilateral Kidney Tumors and Lung Cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research FLCN Regulates Transferrin Receptor 1 Transport and Iron Homeostasis
FLCN helps control iron levels in cells.
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 Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Folliculin Deficient Renal Cancer Cells Show Higher Radiosensitivity Through Autophagic Cell Death
Kidney cancer cells without folliculin are more sensitive to radiation due to increased self-eating cell death.
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 The Multiple Consequences Of Obesity
Obesity leads to physical, metabolic, reproductive issues, higher healthcare costs, and mental health problems.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research What’s New in Birt–Hogg–Dubé Syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Disruption of Tubular Flcn Expression as a Mouse Model for Renal Tumor Induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Development of a Non-Parametric Population Pharmacokinetics Model and Bayesian Estimator for Tacrolimus in Tunisian Renal Transplant Patients
The model and estimator can predict drug exposure in kidney transplant patients well.
research Integrated miRNA-mRNA Analysis Reveals Regulatory Pathways Underlying the Curly Fleece Trait in Chinese Tan Sheep
Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
research Molecular Targeted Agents and Biologic Therapies for Non-Small Cell Lung Cancer
New treatments for non-small cell lung cancer are being tested, with some already in use, focusing on immune response and targeting cancer cells, but side effects vary.
research Cosmeceutical Therapy: Addressing the Effects of UVR Photoaging on the Skin’s Circadian Rhythm
Natural skincare products may help reduce sun damage and support the skin's daily cycle.
research Investigation of Dermatological Manifestations in Maintenance Hemodialysis Patients
Patients on long-term hemodialysis often have skin problems related to their treatment.
research Germacrone and Sesquiterpene-Enriched Extracts from Curcuma Aeruginosa Roxb. Increase Skin Penetration of Minoxidil, a Hair Growth Promoter
Certain extracts from Curcuma aeruginosa Roxb. and germacrone can boost the skin's absorption of minoxidil, a hair growth promoter, making it more effective.
research Evaluating the Antioxidant Effects of Human Hair Protein Extracts
Human hair protein extracts can protect skin cells from oxidative stress.
research Determination of Permeation Pathway of Gentamicin into Pig's Ear Skin
Gentamicin penetrates pig skin better through open hair follicles than blocked ones.
research Heavy Metal and Characterization Study on Momordica Charantia and Hibiscus Rosa-Sinensis Extraction Formulation Herbs Shampoo
The herbal shampoo with Momordica charantia and Hibiscus Rosa-Sinensis is safe and promotes hair growth and scalp health.