research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
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30-60 / 1000+ results research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Shaping Up Mitochondrion in Motion
Mitochondria change shape to meet energy needs during cell movement.
research Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models
Mitochondrial genes help predict breast cancer outcomes and spread.
research 1368 Does mitochondrial dysfunction drive immune privilege collapse in lichen planopilaris pathogenesis?
Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
research Radyoterapinin Metastatik Meme Kanseri Hücrelerindeki Mitokondri İlişkili Yolaklar Üzerine Etkisi
Radiotherapy affects mitochondrial-related genes in metastatic breast cancer cells.
research 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts
Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
research Transient mitochondrial DNA double strand breaks in mice cause accelerated aging phenotypes in a ROS-dependent but p53/p21-independent manner
Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research EP-2271: The role of mitochondria in the non-targeted effect of ionizing radiation
Mitochondria may influence how cells respond to radiation, affecting nearby non-irradiated cells.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research 1431 Skin aging and hair follicle stem cell dysfunction caused by T cells with defective mitochondrial metabolism
Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
research Decline of life’s energy theory of ageing 1. Revitalisation of energy metabolism and ageing mitochondria
Boosting mitochondrial energy production with supplements like acetyl-L-carnitine may improve aging-related cellular function and health conditions.
research The Charnoly body as a universal biomarker of cell injury
Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function
Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Active mitochondria in healthy spiny mouse fibroblasts resemble megamitochondria and remain resilient across lifespan
Spiny mice have resilient, large mitochondria that help them regenerate tissue.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.