research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
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210-240 / 1000+ resultsresearch GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Applications of Marine Organism-Derived Polydeoxyribonucleotide: Its Potential in Biomedical Engineering
PDRN, derived from salmon sperm, shows promise in healing wounds, reducing inflammation, and regenerating tissues, but more research is needed to understand its mechanisms and improve its use.
research Male Pattern Baldness
Male pattern baldness is often genetic and linked to a hormone, with treatments like finasteride and minoxidil being effective for some men.
research Pyruvate Kinase M2 Role in Cardiovascular Repair
PKM2 is a promising target for heart repair and regeneration.
research [Determination of zinc, copper, iron and manganese contents in hair for MPA patients and healthy men].
MPA patients have lower zinc and manganese, higher copper, and similar iron levels in hair compared to healthy men.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Parenteral Nutrition Trace Element Product Shortage Considerations
Use oral or enteral supplements when possible and reserve IV trace elements for those solely dependent on PN.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Evidence that mirex promotes a unique population of epidermal cells that cannot be distinguished by their mutant Ha-ras genotype
Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Teacher CPD: towards a broader perspective
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition
CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Feature characterization of scarring and non-scarring types of alopecia by multiphoton microscopy (Conference Presentation)
Multiphoton microscopy can effectively distinguish between scarring and non-scarring alopecia.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Hair Manganese as a Marker of Cardiometabolic Status Rather than Coronary Artery Disease Severity—An Exploratory Pilot Study
Hair manganese may relate to cardiometabolic health, not coronary artery disease severity.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Conditioned media-integrated microneedles for hair regeneration through perifollicular angiogenesis
A new microneedle patch effectively promotes hair growth by increasing blood vessel formation around hair follicles.
research 04094 Quality of care and risk of relapse in porphyria cutanea tarda: a study from the Norwegian porphyria registry
Regular monitoring helps manage porphyria cutanea tarda effectively.
research Polynucleotides in aesthetic medicine: the science, mechanisms and clinical considerations
Polynucleotides improve skin quality and are safe and effective for rejuvenation.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.