research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
Search
for
Sort by
Research
420-450 / 1000+ results research The Implication of Neuroactive Steroids in Tourette's Syndrome Pathogenesis: A Role for 5α‐Reductase?
Neuroactive steroids and the enzyme 5α-reductase might be involved in the development of Tourette's syndrome.
research Ki-67 Levels and Their Association With Response to Neoadjuvant Chemotherapy in Triple-Negative Breast Cancer: A Prospective Observational Study
Ki-67 levels do not predict treatment response in triple-negative breast cancer.
research New Insights into the Research of Bioactive Compounds from Plant Origins with Nutraceutical and Pharmaceutical Potential
Plant bioactive compounds are important for health and can help prevent various diseases.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research Methods of Transfer Learning for Multiclass Hair Disease Categorization
Transfer learning with three neural network architectures accurately classifies hair diseases.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Author response: The signaling lipid sphingosine 1-phosphate regulates mechanical pain
Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
research Abstract 5022: Keratin15 (Krt15) + are radio resistant and tumor-initiating cells in the mouse small intestine
Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Development and evaluation of antisense shRNA-encoding plasmid loaded solid lipid nanoparticles against 5-α reductase activity
The new particle system could be a promising treatment for diseases related to the 5-α reductase enzyme.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research A subpopulation of itch‐sensing neurons marked by Ret and somatostatin expression
Scientists found a specific group of itch-sensing nerve cells in mice important for feeling itch but not for sensing heat or touch.
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 Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research Geometric classification of scalp hair for valid drug testing, 6 more reliable than 8 hair curl groups
A 6-group hair classification is more reliable for drug testing than an 8-group system.
research プログラミング開発環境の変化と対策 (プログラム作りの環境 ) -- (実例:各社はこんな環境で生産性向上を図っている)
TRPV1 affects sebaceous gland function and could help treat acne.
research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology
Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
research Long and short non-coding RNA and radiation response: a review
Non-coding RNAs could help detect and treat radiation damage.
research PULMONARY DELIVERY OF RESVERATROL-LOADED NANOCOMPOSITE MICROPARTICLES TO TREAT LUNG CANCER
Resveratrol-loaded nanoparticles show promise for lung cancer treatment.
research Mechanisms of proton inhibition and sensitization of the cation channel TRPV3
Acid can block TRPV3 from outside the cell but boost its function from inside.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition
Parathyroid hormone-related protein helps control hair growth phases in mice.
research Cryptotanshinone Suppressed Postmenopausal Osteoporosis by Preventing RANKL-Mediated Osteoclastogenesis against Kidney Injury
Cryptotanshinone may help treat postmenopausal osteoporosis and protect kidneys.
research Influence of an iplatelant therapy with P2Y12 receptor inhibitors on platelet function in elderly patients with acute coronary syndrome
Ticagrelor works better than clopidogrel in reducing platelet activity in elderly patients with acute coronary syndrome.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research [Peptidergic innervation in the sinus hair follicles of several mammalian species].
Sinus hair follicles in mammals have different nerve fiber types with species-specific patterns, especially in cats.