research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
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750-780 / 1000+ results research Exact, time-independent estimation of clone size distributions in normal and mutated cells
A new method accurately estimates clone sizes in cells without considering time.
research A computational approach to mechanistic and predictive toxicology of pesticides
Pesticides can cause reproductive and adrenal health issues.
research Œdème angioneurotique sans anomalie de l’inhibiteur de la C1 estérase : efficacité de l’acide tranexamique
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
research Follicular Unit Excision-Linear Ellipse (FUE-LE): A New Way to Add the Linear Ellipse Donor Harvesting Method to Any FUE Practice
The FUE-LE technique combines two hair transplant methods to harvest more hair with minimal visible scarring, especially for patients with advanced hair loss.
research Enhancing Low-Light Sports Motion Images with Improved Bilateral Filtering and Auto MSRCR
The method greatly improves low-light sports images' quality and reduces artifacts.
research MLL histone methylases in estrogen‐mediated regulation of HOX genes involved in hair follicle development and leukemia
Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
research Rumpel-Leede Phenomenon Associated with Pneumatic Compression: A Case Report
Pneumatic compression can cause skin bruising even in healthy individuals.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research European Consensus on the evaluation of women presenting with excessive hair growth
Experts made a guide to help doctors evaluate women with too much hair growth.
research Bioengineering a humanized acne microenvironment model: Proteomics analysis of host responses to Propionibacterium acnes infection in vivo
A new model helps study acne and test treatments.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research A mouse model of vitiligo based on endogenous auto-reactive CD8 + T cell targeting skin melanocyte
A new mouse model effectively mimics vitiligo for research and drug testing.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Clinical and endocrine characteristics of the main polycystic ovary syndrome phenotypes
Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
research Exploring Diachronic Changes of Biomedical Knowledge using Distributed Concept Representations
The document concluded that biomedical knowledge changes over time and the study evaluated a new method to track these changes.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Exosomes in Aesthetic Medicine: An Overview
Exosomes are promising tools in aesthetic medicine for skin and hair regeneration.
research A Concise Review of Organoid Tissue Engineering: Regenerative Applications and Precision Medicine
Organoids can revolutionize medicine by modeling diseases and aiding in personalized treatments.
research Optimisation of a Murine Infection Model With Trichophyton mentagrophytes for Studying the Pathogenesis of Dermatophytosis
The study developed a successful mouse model to study skin infections, highlighting the importance of choosing the right fungal strains.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.