research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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600-630 / 1000+ results research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in
research Polyamine-controlled proliferation and protein biosynthesis are independent determinants of hair follicle stem cell fate
Polyamines are important in deciding hair follicle stem cell behavior, affecting hair growth and loss.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS
All major hair defects involve cuticle abnormalities.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
research Analysis of the abnormal human hair keratins by two-dimensional polyacrylamide gel electrophoresis
research EXOSSOMOS E PLASMA RICO EM PLAQUETAS COMO NOVAS TERAPIAS REGENERATIVAS NA ALOPECIA: UMA REVISÃO SISTEMÁTICA DE LITERATURA
Exosome and PRP therapies show promise for treating hair loss but need more research for standardization and safety.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Acute Disseminated Paracoccidioidomycosis with Molluscoid Lesions in a Young Woman
A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
research Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
research PRIDE Complex (Papulopustules and/or Paronychia, Regulatory Abnormalities of Hair Growth, Itching, Dryness Due to EGFR Inhibitors)
PRIDE complex side effects from EGFR inhibitors can be managed without stopping treatment.
research Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Número de plaquetas e níveis de fatores de crescimento no plasma rico em plaquetas (PRP) fresco e liofilizado, e sua correlação com parâmetros de crescimento capilar e efeito clínico na alopecia androgenética = Platelet number and growth factors levels in fresh and lyophilized platelet rich plasma (PRP) and its correlation with hair growth parameters and clinical effect in androgenetic alopecia
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Promotion of homology-directed DNA repair by polyamines
Polyamines help fix DNA damage accurately in cells.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Research Snippets
New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research The coenzyme A precursor pantethine enhances antitumor immunity in sarcoma
Pantethine may boost the immune system's ability to fight sarcoma.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.