research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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30 / 1000+ resultsresearch Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research References
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
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 Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research P‐30 Use of fipronil for treatment of Lynxacarus radovskyi in outdoor cats in Rio de Janeiro (Brazil)
Fipronil effectively treats Lynxacarus radovskyi in outdoor cats.
research Fetal wound healing using a genetically modified murine model: the contribution of P-selectin
P-selectin is not the only factor that prevents scarring in fetal wound healing in mice.
research Accumulations of Ca/P in the core of hairs from Taklamakan desert mummies
Mummy hair from the Taklamakan desert has calcium and phosphorus inside.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research P‐79 Hair follicle growth arrest in Austrian Icelandic horses
Supplementing vitamins and minerals prevented hair loss in Icelandic horses.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research P‐35 Nonlethal junctional epidermolysis bullosa in a dog
A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
research A bio-polymeric scaffold incorporated with p-Coumaric acid enhances diabetic wound healing by modulating MMP-9 and TGF-β3 expression
A new wound dressing with p-Coumaric acid helps heal diabetic wounds faster by reducing inflammation and promoting skin repair.
research 608 A clinical study to test the efficacy of VB1953 in clindamycin non-responder acne patients with antibiotic-resistant P. acnes
VB1953 gel significantly reduced acne and resistant bacteria in patients who didn't respond to clindamycin.
research FINASTERIDE INFLUENCE ON P-GLYCOPROTEIN FUNCTIONAL ACTIVITY
Finasteride increases P-glycoprotein activity in the liver and kidney.
research The Expression of P-Responsive Genes is Related to Root Hair Growth
Certain genes may promote longer root hairs in plants when phosphorus is low.
research P-Phenylenediamine-Induced Angioedema-like Facies: A Case Report and Review of Pathomechanisms
Hair dye ingredient PPD can cause severe allergic reactions, including facial swelling.
research The Rho GTPase regulator ARHGEF3 orchestrates hair placode budding by coordinating cell fate and P-cadherin patterning in mice
ARHGEF3 is essential for proper hair follicle development in mice.