research Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia
Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
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150-180 / 1000+ results research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin causes an increase in protein kinases growth hepatic associated with epidermal factor receptor in the plasma membrane
TCDD reduces EGF receptors in the liver, affecting growth and development.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
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 HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research A Case Report on Idiopathic-Multi-centric Castleman’s Disease Associated POEMS- Syndrome
Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Epidermal Differentiation Complex: A Review on Its Epigenetic Regulation and Potential Drug Targets.
Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
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 Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Essential Oils and Their Single Compounds in Cosmetics—A Critical Review
Essential oils in cosmetics can offer benefits but may cause allergies and should be used carefully.
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research Physicochemical properties of pH-sensitive hydrogels based on hydroxyethyl cellulose–hyaluronic acid and for applications as transdermal delivery systems for skin lesions
The hydrogel with a 1:3 ratio of hydroxyethyl cellulose to hyaluronic acid is effective for delivering drugs through the skin to treat acne.
research Microenvironmental reprogramming of thymic epithelial cells to skin multipotent stem cells
Scientists turned rat thymus cells into stem cells that can help repair skin and hair.
research ς1Receptor-Related Neuroactive Steroids Modulate Cocaine-Induced Reward
Neuroactive steroids affect cocaine's rewarding effects through the ς1 receptor.
research 55 cases of allergic reactions to hair dye: a descriptive, consumer complaint‐based study
Many people had severe allergic reactions to a common hair dye ingredient, causing them to seek medical care and miss work.
research Changes in Expression and Function of Extrasynaptic GABAAReceptors in the Rat Hippocampus during Pregnancy and after Delivery
Pregnancy increases certain GABAA receptors in rat brains, influenced by steroid levels.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research High-performance liquid chromatography–diode array and electrospray-mass spectrometry analysis of non-allowed substances in cosmetic products for preventing hair loss and other hormone-dependent skin diseases
The method effectively identifies banned substances in hair loss and skin disease cosmetics.