research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
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research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research 42134 Long-term Efficacy of Guselkumab (GUS) on Fatigue and Identification of Early Treatment Targets: Post Hoc Analysis Through 2 Years of a Phase 3, Randomized, Double-blind, Placebo-controlled Study in Biologic-naïve Patients With Psoriatic Arthritis (PsA)
Guselkumab effectively reduces fatigue in Psoriatic Arthritis patients over two years.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Case Report: High Dose Vitamin D & Anti-inflammatory Diet (Systemic Lupus Erythematosus & Alopecia Areata)
High-dose vitamin D and an anti-inflammatory diet may help improve symptoms in autoimmune conditions like SLE and AA.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Relation of Selenium, Vitamin E and Other Factors to Muscular Dystrophy in the Rabbit
Natural feedstuffs help reduce muscular dystrophy in rabbits more than selenium or vitamin E alone.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research A Novel Effect for Glycine on Root System Growth of Habanero Pepper
Glycine slows main root growth but boosts root hair growth in habanero peppers.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways
Overexpression of LRIG3 in skin causes hair loss.
research Selenium Toxicity: A Case of Selenosis Caused by a Nutritional Supplement
Excessive selenium from supplements can be harmful.
research A 12-week treatment with the long-acting glucagon-like peptide 1 receptor agonist liraglutide leads to significant weight loss in a subset of obese women with newly diagnosed polycystic ovary syndrome
Liraglutide caused significant weight loss in some obese women with PCOS, especially those with severe obesity and insulin resistance.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Interventional Evaluation of Monoammonium Glycyrrhizinate-Glycine/DLMethionine Combination Tablets in Mild Alopecia Areata
The combination therapy may be more effective for mild alopecia areata, especially in patients with allergies.
research The human tri-peptide GHK and tissue remodeling
The peptide GHK-Cu helps heal and remodel tissue, improves skin and hair health, and has potential for treating age-related inflammatory diseases.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Reduction mechanism of L ‐cysteine on keratin fibers using microspectrophotometry and Raman spectroscopy
L-cysteine slows down the breaking of bonds in hair due to electrostatic interactions.
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 Biomarkers of selenium status in dogs
Urinary Se to creatinine ratio, serum Se, and glutathione peroxidase are effective early biomarkers for selenium status in dogs.
research Uncovering novel biomarkers and drug targets for androgenetic alopecia via metabolite regulation and multi-tissue validation
SOD1 and KL are promising targets for new hair loss treatments.
research Nephrogenic systemic fibrosis: Report of two cases
The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
research Toxic epidermal necrolysis caused by skin hypersensitivity to monosulfiram.
A woman's severe skin reaction was caused by an allergy to a skin treatment.