research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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630-660 / 1000+ resultsresearch Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research The Force Is Strong with This One: Metabolism (Over)powers Stem Cell Fate
Metabolism plays a key role in determining stem cell fate.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
research UHPLC/Q-TOFMS-based plasma metabolomics of polycystic ovary syndrome patients with and without insulin resistance
The research found different metabolism changes in PCOS patients and suggested new potential markers for diagnosing PCOS with or without insulin resistance.
research Immunohistochemical localization of fatty acid transporters and MCT1 in the sebaceous glands of mouse skin
Sebaceous glands help study fatty acid transporters and binding proteins.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research Skin as a mirror of metabolic syndrome: Do some dermatoses alarm internal metabolic sinister?
Certain skin conditions can indicate a higher risk of diabetes and heart problems.
research Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome
Certain metabolites may help diagnose and predict polycystic ovary syndrome.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Skin as a Metabolic Organ: Dermatologic Markers of Morbid Obesity and Their Role in Risk Stratification and Treatment Monitoring
Skin changes in obesity can indicate metabolic issues but aren't reliable for assessing risk or monitoring treatment.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Occult fungal infection is the underlying pathogenic cause of atherogenesis
Hidden fungal infections might cause heart disease and clogged arteries.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Pilomatricoma on the Abdomen with Overlying Striae Distensae: A Unique Presentation
A rare case of a benign hair follicle tumor with unusual skin changes highlights the need for timely diagnosis to prevent potential cancer.
research Lipid droplets and associated proteins in sebocytes
Sebum from sebocytes is important for skin health and linked to conditions like acne and hair loss.
research Refinement of Technique in Injection Lipolysis Based on Scientific Studies and Clinical Evaluation
Injection lipolysis effectively reduces small fat deposits and should be done with care and proper patient selection.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Statins for women with polycystic ovary syndrome not actively trying to conceive
The effectiveness of statins for women with PCOS is unclear.
research Metabolic Syndrome and Skin Diseases
Metabolic Syndrome is linked to several skin conditions, and stem cell therapy might help treat them.
research Obesity and the skin: Skin physiology and skin manifestations of obesity
Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
research Decreased lipin 1β expression in visceral adipose tissue is associated with insulin resistance in polycystic ovary syndrome
Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research The triacylglycerol synthesis enzyme DGAT1 also catalyzes the synthesis of diacylglycerols, waxes, and retinyl esters
DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research The Current and Emerging Role of Statins in the Treatment of PCOS: The Evidence to Date
Statins may help treat PCOS by lowering androgen levels and improving cholesterol.
research Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research β‐Sitosterol—Dietary sources and role in cancer and diabetes management
β-Sitosterol may help prevent heart disease, cancer, and diabetes, but more human studies are needed.