research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
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300-330 / 1000+ results research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
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 Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Restolin - Successful Hair Loss Treatment!
research Follow‐up of Adverse Drug Reactions from Peginterferon alfa‐2b—Ribavirin Therapy
Peginterferon alfa-2b and ribavirin therapy for hepatitis C can cause serious side effects, some different from those reported in clinical trials.
research Elevated body mass index, statin use, and cholecystectomy are associated with vulvar lichen sclerosus: A retrospective, case-control study
Being overweight, having gallbladder removal surgery, and taking cholesterol-lowering drugs are linked to a higher chance of getting vulvar lichen sclerosus.
research A prospective observational study on drug safety monitoring and Pharmacoeconomics in patients with locally advanced unresectable NSCLC in a tertiary care hospital
Carboplatin-paclitaxel is preferred for advanced lung cancer due to its balance of affordability and patient well-being.
research Involvement of neurosteroids in the anxiolytic-like effects of AC-5216 in mice
AC-5216 reduces anxiety in mice through neurosteroids affecting GABAA receptors.
research Oral Low-Dose Naltrexone in the Treatment of Frontal Fibrosing Alopecia and Lichen Planopilaris: An Uncontrolled Open-Label Prospective Study
Low-dose naltrexone may help reduce redness in certain scalp conditions.
research Improvement of Recalcitrant Dissecting Cellulitis of the Scalp After a Trial of Upadacitinib
Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
research Beneficial Effects of Liver on Cortisone Acetate Toxicity in the Rat.
Liver in the diet reduces cortisone acetate toxicity effects in rats.
research Leflunomide for the treatment of trichodysplasia spinulosa in a liver transplant recipient
Leflunomide successfully treated a rare skin condition in a liver transplant patient.
research FCE 28260, a new 5α-reductase inhibitor: In vitro and in vivo effects
FCE 28260 is a stronger and longer-lasting inhibitor of 5α-reductase than finasteride, which may make it a better treatment for certain medical conditions.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research Kerion Celsi due to Microsporum canis in an Adult Woman, Treated Successfully with Fosravuconazole
Fosravuconazole effectively treated a woman's scalp infection without side effects.
research PROSPECTIVE CLINICAL STUDY TO ASSESS THE SAFETY AND EFFICACY OF DRAVANTI BEEJ LEPA (LOCAL APPLICATION OF CROTON TIGLIUM) IN INDRALUPTA W. S. R. TO ALOPECIA AREATA
Dravanti beeja lepa is safe and effective for regrowing hair in Alopecia Areata.
research P133 Anifrolumab treatment improves quality of life and decreases corticosteroid use in patients with SLE
Anifrolumab improves quality of life and reduces steroid use in SLE patients.
research 1425 Deregulation of toll like receptor signaling and association with caveolin-1 in lichen planopilaris reveals a novel mechanism in pathogenesis of scarring alopecia
The study suggests that changes in immune system receptors and their interaction with a cell component may be important in the development of a type of hair loss condition.
research Bicalutamide
research Differential cardiometabolic outcomes of leuprolide versus spironolactone in women with polycystic ovary syndrome
Leuprolide may better manage cholesterol and blood pressure in PCOS than spironolactone.