research Protein Kinase C Is a Key Target for Attenuation of Leigh Syndrome by Rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
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30 / 325 results research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Protein Kinase C Downregulation Upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
research PKC Downregulation Upon Rapamycin Treatment Attenuates Mitochondrial Disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Mitochondrial Complex I Activity Suppresses Inflammation and Enhances Bone Resorption by Shifting Macrophage-Osteoclast Polarization
Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
research Methylene Blue: Its Efficacy and Safety as a Storage Solution in Hair Transplantation
Methylene blue is less effective than normal saline solution for storing hair grafts and may reduce graft survival.
research References
research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research Health Care-Related Economic Burden of Polycystic Ovary Syndrome During the Reproductive Life Span
Polycystic ovary syndrome costs the U.S. over $4 billion a year, mainly from treating related health issues.
research The Pathophysiology of Polycystic Ovary Syndrome: Understanding PCOS and Its Endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research Obesity and Polycystic Ovary Syndrome: Implications for Pathogenesis and Novel Management Strategies
Obesity worsens PCOS symptoms, and PCOS may lead to more weight gain; managing both requires a holistic approach that includes mental health.
research Adult Polycystic Ovary Syndrome Begins in Childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
research Obesity and Polycystic Ovary Syndrome
Obesity increases the risk of developing polycystic ovary syndrome, and weight loss can improve the condition.
research Polycystic Ovary Syndrome and Insulin-Resistant Hyperinsulinemia
Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
research Compendium of Polycystic Ovarian Syndrome and Its Relevance in Glycation and Diabetes
PCOS is linked to diabetes and insulin resistance, and managing AGEs may help treat related symptoms.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research Hair Glucocorticoid Levels in Parkinson’s Disease
People with Parkinson's disease have higher levels of cortisone in their hair, which may indicate chronic stress hormone dysfunction.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.