research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
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870-900 / 1000+ resultsresearch Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Minoxidil induced hypertrichosis in a 2 year-old child
A 2-year-old boy grew excessive hair after using minoxidil for hair loss, but it improved when the treatment stopped.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Rejuvenation: an integrated approach to regenerative medicine
Rejuvenating self-repair mechanisms could improve organ recovery in regenerative medicine.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research Patterns of noncicatricial alopecia in children: a cross-sectional study
Trichoscopy helps diagnose and manage hair and scalp disorders in children.
research British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research 5α-Reductases In Human Physiology: an Unfolding Story
We need to learn more about 5α-reductases and neuroactive steroids to safely make drugs targeting these enzymes.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Tertiary hypothyroidism in a dog
A dog with a pituitary tumor developed tertiary hypothyroidism, improved with treatment, but was later euthanized due to neurological issues.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Treatment of lipomas and diffuse lipomatosis with NDYAG 1064 NM laser and their impact on the quality of life
Laser treatment for lipomas improves quality of life with quick recovery and high satisfaction.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Dercum Disease: Exploratory Therapeutic Approaches in the Absence of Standardized Medical Treatment—A Single Center Case Series
Individualized treatments may help manage Dercum's disease symptoms.
research Advances in Innovative Surgical Implant Manufacturing for Hernia Repair and Soft Tissue Reconstruction
Coating surgical meshes with PRP may improve hernia repair outcomes.
research Delicious Dermatology: Baked-Up Eponyms
Using baked goods as visual aids helps people understand skin conditions better.
research Epidermoid Cyst in the Bitch Mammary Gland
An epidermoid cyst in a dog's mammary gland is rare and benign.
research How rare is isolated rheumatic tricuspid valve disease?
Isolated rheumatic tricuspid valve disease is very rare.
research 5α-Reductases in Human Physiology: An Unfolding Story
Enzymes called 5α-reductases have many body functions and need more research to safely use inhibitors.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research The developmental basis of fingerprint pattern formation and variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.