research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
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research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Omeprazole-induced hypertrichosis in two children
Two children grew extra hair from taking omeprazole, which went away after they stopped the medication.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Inhibiting Biosynthesis and/or Metabolism of Progestins in the Ventral Tegmental Area Attenuates Lordosis of Rats in Behavioural Oestrus
Blocking certain brain processes reduces mating behavior in female rats.
research Functionally enhanced placenta-derived mesenchymal stem cells inhibit adipogenesis in orbital fibroblasts with Graves’ ophthalmopathy
Enhanced stem cells can reduce fat buildup in eye tissue for Graves' disease.
research Post-Drug Syndromes: A Neglected Challenge in Pharmacovigilance and Public Health
Post-drug syndromes are often overlooked, and better systems and education are needed to improve drug safety.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Alopecia areata associated with haloperidol decanoate long-acting injection
Haloperidol decanoate can cause alopecia areata.
research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Valproic acid. A reappraisal of its pharmacological properties and clinical efficacy in epilepsy.
Valproic acid is an effective and safe first-choice treatment for many types of seizures.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research A Simple Decision Tree Suited for Identification of Early Oral Drug Candidates With Likely Pharmacokinetic Nonlinearity by Intestinal CYP3A Saturation
The decision tree can predict drug absorption issues with good accuracy but needs more validation and adjustments for other factors.
research Erratum
research Disproportionality analysis comparing safety profiles of sonidegib and vismodegib based on the FAERS database
Sonidegib and vismodegib have different side effects and reporting patterns.
research RETRACTED: Fabrication of Oro-Dispersible Sodium Valproate-Loaded Nanofibrous Patches for Immediate Epileptic Innervation
The patches could quickly deliver epilepsy treatment and reduce seizures.
research Finasteride Blocks the Reduction in Ictal Activity Produced by Exogenous Estrous Cyclicity
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Correction: RASopathic Skin Eruptions during Vemurafenib Therapy
Vemurafenib causes significant skin side effects, requiring regular dermatologist care and sun protection.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research Effect of 5-alpha reductase inhibitors in animal models of Parkinson’s disease
5-alpha reductase inhibitors may help protect the brain and gut in Parkinson's disease.
research Safety profile of CAP7.1 obtained during Phase I Trial in adult patients with refractory malignancies
CAP7.1 is generally safe at 200 mg/m²/day, but can cause fatigue, nausea, hair loss, fever, and blood-related issues.