research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
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960-990 / 1000+ results research In‐silico Screening of ATP‐competitive Inhibitory Activities of Phytochemicals against Janus Kinase 3 and Its In‐vitro Evaluation
Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research The Emerging Structural Pharmacology of ATP-Sensitive Potassium Channels
KATP channels are important for energy balance and are targeted by drugs for diabetes, hypoglycemia, hypertension, and hair loss.
research Pruritus as a Symptom in Hyperthyroidism
Itching can be an early sign of hyperthyroidism.
research Dermatological Manifestations in Pediatric Patients with Chronic Kidney Disease.
Skin issues are common in kids with chronic kidney disease.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research Pyruvate Kinase M2 Accelerates Cutaneous Wound Healing via Glycolysis and Wnt/β-Catenin Signaling
Activating PKM2 and Wnt/β-catenin signaling speeds up wound healing.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Chronische Thalliumintoxikation: Beobachtung einer kriminellen Vergiftung
A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.
research Possible biotin deficiency in adults receiving long-term total parenteral nutrition
Biotin deficiency can cause hair loss in adults on long-term TPN, but supplementation helps regrow hair.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Long-term pubic dermatitis diagnosed as white piedra.
A long-term pubic rash was finally diagnosed as white piedra and cured with ketoconazole.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Finasteride Alleviates High Fat Associated Protein-Overload Nephropathy by Inhibiting Trimethylamine N-Oxide Synthesis and Regulating Gut Microbiota
Finasteride may help treat kidney disease caused by a high-fat diet by reducing harmful toxins and improving gut bacteria.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Zone 1 Hepatocellular Necrosis: A Manifestation of Selenium Toxicity?
Excessive selenium intake can cause liver damage.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research RETRACTED: Genetic causality and metabolite pathway identifying the relationship of blood metabolites and psoriasis
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.