research Deletion of the Sox21 gene drastically affects hair lipids
Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
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research Bioconversion, Pharmacokinetics, and Therapeutic Mechanisms of Ginsenoside Compound K and Its Analogues for Treating Metabolic Diseases
Ginsenoside compound K shows promise for treating metabolic diseases like obesity and diabetes, but more research is needed on its safety and effectiveness.
research Transcriptomics analysis reveals molecular alterations underpinning spaceflight dermatology
Spaceflight can harm skin health, but organisms can adapt after returning to Earth.
research Progressive expression of PPARGC1α is associated with hair miniaturization in androgenetic alopecia
Increased PPARGC1α relates to hair thinning in common baldness.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Graded levels of pyridoxine in the rat diet during gestation and the physical and neuromotor development of offspring
Not enough vitamin B6 in pregnant rats' diets caused poor development and health in their babies.
research Arginine Metabolic Disruption Impairs Hair Regeneration via ROS-Mediated Inactivation of mTOR Signaling in Androgenetic Alopecia.
Arginine deficiency hinders hair growth in androgenetic alopecia, but restoring it can promote hair regeneration.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Autoimmune gastritis is common in patients with iron deficiency – Non-invasive evaluation of iron deficiency aside guideline recommendations
Autoimmune gastritis is a common cause of iron deficiency and should be included in diagnostic guidelines.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Pantothenic Acid Deficiency in Baby Pigs
Young pigs need 10-20 mg of calcium pantothenate daily to fully recover from pantothenic acid deficiency.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Pellagra and anorexia nervosa: a case report
A woman with anorexia nervosa improved after treatment for pellagra, reminding doctors to check for this deficiency in patients with eating disorders.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Biochemical changes and liver tissue pathology in weanling Wistar albino rats with protein-energy malnutrition (PEM).
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research Megaloblastic Anemia in a Patient on Peritoneal Dialysis Returning from Kenya
Proguanil can cause anemia and hair loss in kidney disease patients.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research Pellagrous dermatitis: a forgotten entity
Pellagrous dermatitis, caused by niacin deficiency, can be cured with vitamin supplements.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.