research Sterile matrix grafting for onycholysis in the setting of valproic acid use
Surgical grafting may fix nail issues caused by valproic acid.
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420-450 / 1000+ resultsresearch Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Pesticides Exposure and Risk of Hypospadias
Pesticide exposure may increase the risk of hypospadias in males.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Regional Variation in Androgen Receptor Expression and Biomechanical Properties May Contribute to Cryptorchidism Susceptibility in the LE/orl Rat
Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
research 744 Role of Sdf1-Cxcr4 signaling in mouse appendage regeneration
Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research Rapid mechanosensitive migration and dispersal of newly divided mesenchymal cells aid their recruitment into dermal condensates
Newly divided skin cells quickly move to join skin structures due to tissue tension and specific signals.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Concerted gene duplications in the two keratin gene families
research Tourniquet syndrome in children (literature review and own observation)
Quick action and prevention are crucial to avoid severe complications from tourniquet syndrome in children.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research 876 Imaging nanoscale changes in desmosome protein organization
Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.