research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
Search
for
Sort by
Research
930-960 / 1000+ results research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple
A supernumerary nipple was correctly identified using dermoscopy, avoiding misdiagnosis.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Characterization of Novel Cutaneous Human Papillomavirus Genotypes HPV-150 and HPV-151
HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research Orf contamination may occur during religious events
Orf infections can happen during the Muslim event 'Aid el Kebir' due to close contact with sheep.
research [Prophylaxis of recurring low-flow priapism : Experimental botulinum neurotoxin injection into the ischiocavernosus muscle].
Botulinum neurotoxin injections into the pelvic muscles successfully prevented priapism relapse for over six months.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Equine Dermatophytosis caused by Nannizzia gypsea - Molecular Diagnosis by qPCR
qPCR is effective for quickly diagnosing fungal infections in horses.
research Parasitic angiosperms, semagenesis and general strategies for plant–plant signaling in the rhizosphere
Reactive oxygen species are key for parasitic plant attachment and affect root development in various plants.
research SUPERFICIAL SKIN INFECTION WITH SCOPULARIOPSIS BREVICAULIS IN TWO GOATS. A CASE REPORT
A goat's skin infection was cured with itraconazole and D-biotin.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research Trichoblastomas derived from the facial skin with tactile hair in aged house musk shrews (Suncus murinus)
Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
research Sexual steroid regulation of spermatogenesis: new actors enter the stage
Estrogens and androgens are crucial for male fertility.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Erythema multiforme sparing regressing herpes zoster lesion: “Reverse isotopic phenomenon?”
A patient's skin rash did not affect the area where a previous viral rash was healing, suggesting a rare immune response.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Toxoplasma gondii infection and testosterone alteration: A systematic review and meta-analyses
Toxoplasma gondii infection may increase testosterone levels in males.
research MON-336 Ovaries Reveal Their Inner Testes
A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
research [Genetic expression and morphogenesis of the skin in vertebrates].
Retinoic acid can change skin structures in vertebrates, like turning scales into feathers or hair buds into glands.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.