research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
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330-360 / 1000+ results research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Syndecan-1 Is Required to Maintain Intradermal Fat and Prevent Cold Stress
Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Near-total penile amputation secondary to hair Torniquet syndrome – Case of a staged repair with a satisfactory outcome
Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Synaptic‐like vesicles and candidate transduction channels in mechanosensory terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
research The Distribution of Preputial Vessels at Different Severity of Rat Congenital Hypospadias Model
Micro-CT helps identify suitable areas for surgical procedures based on blood vessel distribution in hypospadias-affected rats.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Sry Transcript Expression in Five Adult Male Rat Tissues and Correlation with Acsl3 Transcript Expression
Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Tether-induced tenosynovitis: The importance of an intact skin barrier
An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Hair-thread tourniquet syndrome in a preterm baby
A preterm baby's toes were saved from damage by quickly removing a thread that was cutting off circulation.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique
The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Effective Surgical Treatment of Cubital Tunnel Syndrome Based on Provocative Clinical Testing without Electrodiagnostics
Surgical treatment for cubital tunnel syndrome can be effective using clinical tests without electrodiagnostics.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Cutaneous Hybrid Cyst in a Sprague-Dawley Rat
A rat had a cyst similar to a hair follicle structure.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.