research Microphthalmic-associated transcription factor integrates melanocyte biology and melanoma progression.
Mitf plays a key role in melanoma progression and is linked to disease stage.
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420-450 / 1000+ resultsresearch Scanning electron microscopy of ibrutinib-induced hair shaft changes
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research America - A Diversity of Life Styles.
The drug showed promise in treating renal cell carcinoma with manageable side effects.
research Analysis of Mercury in Sequential Micrometer Segments of Single Hair Strands of Fish-Eaters
LA-ICP-MS can effectively track mercury exposure over time in hair.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Microscopic polyangiitis secondary to Mycobacterium abscessus in a patient with bronchiectasis: a case report
A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
research P154 Revised basic and specific (BASP) classification for pattern hair loss
The revised BASP classification for hair loss is less accurate and harder to use but could still be a viable option.
research The BJUI 's clinical trials initiative
The BJUI supports clinical trials as key for unbiased medical evidence and works to enhance their design, reporting, and discussion.
research “Prick or treat”: a case of systemic reaction during intradermal tests with beta-lactams
Longer treatment with vismodegib lowers relapse risk in basal cell carcinoma.
research A microfluidic application for mass production of drug-loaded polymeric microspheres for a long-acting injectable with IVL-DrugFluidic®, a novel microfluidic microsphere manufacturing platform technology
IVL-DrugFluidic® can mass-produce high-quality, long-acting injectable drug microspheres, improving patient compliance and reducing side effects.
research Internal medicine-important advances in clinical medicine: percutaneous transluminal coronary angioplasty.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Lichen Planus Activity and Damage Index (LiPADI)–Creation of the Questionnaire
LiPADI is a useful tool for monitoring the severity and treatment of lichen planus.
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 Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Smoothened receptor inhibitor vismodegib for the treatment of basal cell carcinoma: a retrospective analysis of efficacy and side effects
Vismodegib is effective for basal cell carcinoma but has severe side effects.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
research A Rare Type of Radiation-Induced Alopecia: Proton-Induced Alopecia
A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research 368 Methods in Inflammatory Hair Disease Research: Enhanced Multiplex Imaging on Alopecia Areata Tissue Sections
New imaging technology can show up to 40 different markers in hair loss tissue, helping to understand hair disease better.
research A Case of Cutaneous Focal Mucinosis With Follicular Induction
A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.