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.
Search
for
Sort by
Research
30 / 1000+ results
research Histopathological Effects of Anabolic Androgenic Steroids (Nandrolone Decanoate) on Heart, Liver and Kidney of Male Local Rabbits
Nandrolone decanoate damages the heart, liver, and kidneys.
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 Clinical evaluation of furostanolicsaponins and flavanoids in polycystic ovarian syndrome (pcos) patients
Fenugreek seed extract safely reduces ovarian volume and cyst size in women with PCOS.
research Acute and 30-day oral toxicity studies of a novel coccidiostat – ethanamizuril
Ethanamizuril is safe for rats at 20 mg/kg feed, but higher doses cause hair loss, organ changes, and liver, kidney, and lung damage.
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.
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 Syndrome of Birt–Hogg–Dubé, 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 Receipt of 5-Alpha Reductase Inhibitors Before Radical Cystectomy: Do They Render High-Grade Bladder Tumors Less Aggressive?
Taking 5-Alpha Reductase Inhibitors before bladder removal surgery might make high-grade bladder tumors less aggressive.
research Most frequent dermatosis in patients with kidney transplantation
Kidney transplant patients often have skin issues, mainly infections.
research Aggressive squamous cell carcinoma developing in a giant epidermal cyst of the abdomen
A woman died from cancer that spread from a long-standing cyst on her abdomen.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Recent advances on the mechanisms of kidney stone formation (Review)
Kidney stones form due to factors like urine concentration, calcium deposits, hormones, gut bacteria, and immune response.
research Skin manifestations of chronic kidney disease
Chronic kidney disease can cause skin problems that affect patient quality of life, and treating these conditions can improve outcomes.
research Skin manifestations of chronic kidney disease
People with advanced chronic kidney disease often have skin problems, which can be treated with various medications and procedures to improve their quality of life.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Cutaneous Manifestations of Chronic Kidney Disease: A Narrative Review
Chronic kidney disease can cause skin issues that need early recognition and combined treatment for better outcomes.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site That Is Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Valence-engineered catalysis-selectivity regulation of molybdenum oxide nanozyme for acute kidney injury therapy and post-cure assessment
A specially designed molybdenum oxide nanozyme can treat and monitor acute kidney injury effectively.
research Comparison of cutaneous manifestations in chronic kidney disease with or without dialysis
Most patients with chronic kidney disease have skin problems, which get worse as the disease progresses, and dialysis doesn't greatly reduce these issues.
research The story of when kidneys fail and the contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
research Valence-engineered catalysis-selectivity regulation of molybdenum oxide nanozyme for acute kidney injury therapy and post-cure assessment
Molybdenum oxide nanozymes can effectively treat and monitor acute kidney injury by reducing oxidative stress.
research Azathioprine-induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report
A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.